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Rare Disease
3-methylglutaconic aciduria type 8
: code 505208
3-methylglutaconic aciduria type 9
: code 505216
3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-likesyndrome
: code 352328
3-methylglutaconic aciduria- cataract-neurologic involvement-neutropenia syndrome
: code 445038
3-methylglutaconic aciduria- epilepsy-spasticity-severeintellectual disability syndrome
: code 505216
3-methylglutaconyl-CoA hydratasedeficiency
: code 67046
3-oxothiolase deficiency
: code 134
3-phosphoglycerate dehydrogenasedeficiency infantile/juvenile form
: code 79351
3-phosphoglycerate dehydrogenasedeficiency neonatal form
: code 2671
3-phosphoserine phosphatasedeficiency
: code 79350
3A syndrome
: code 869
3C syndrome
: code 7
3M syndrome
: code 2616
3MC syndrome
: code 293843
3MC1 syndrome
: code 293843
3MC2 syndrome
: code 293843
3MC3 syndrome
: code 293843
3MG-CoA hydratase deficiency
: code 67046
4-HPPD deficiency
: code 2118
4-alpha-hydroxyphenylpyruvatehydroxylase deficiency
: code 2118
4-hydroxybutyric aciduria
: code 22
4-hydroxyphenylpyruvic aciddioxygenase deficiency
: code 2118
4A syndrome
: code 869
4H syndrome
: code 88637
5-amino-4-imidazole carboxamideribosiduria
: code 250977
5-fluorouracil intoxication
: code 217064
5-fluorouracil poisoning
: code 217064
5-oxoprolinase deficiency
: code 33572
6-phosphogluconatedehydrogenase deficiency
: code 99135
6-pyruvoyl-tetrahydropterinsynthase deficiency
: code 13
7-dehydrocholesterol reductasedeficiency
: code 818
11-beta-hydroxysteroiddehydrogenase deficiency type 1
: code 168588
11-beta-hydroxysteroiddehydrogenase deficiency type 2
: code 320
17-beta-hydroxysteroiddehydrogenase 3 deficiency
: code 752
17-ketoreductase deficiency
: code 752
17-ketosteroidreductase deficiency
: code 752
18-hydroxylase deficiency
: code 99763
18-oxidase deficiency
: code 99763
45 X syndrome
: code 881
45 X/46 XX syndrome
: code
45 X/46 XY MGD
: code 1772
45 X/46 XY mixed gonadaldysgenesis
: code 1772
45 X0/46 XY MGD
: code 1772
45 X0/46 XY mixed gonadaldysgenesis
: code 1772
46 XX complete gonadal dysgenesis
: code 243
46 XX disorder of sex development-anorectal anomalies syndrome
: code 2973
46 XX disorder of sex development-skeletal anomalies syndrome
: code 2975
46 XX gonadal dysgenesis
: code 243
46 XX ovarian dysgenesis
: code 243
46 XX ovarian dysgenesis-shortstature syndrome
: code 444048
46 XX ovotesticular DSD
: code 2138
46 XX ovotesticular disorder of sexdevelopment
: code 2138
46 XX pure gonadal dysgenesis
: code 243
46 XX testicular DSD
: code 393
46 XX testicular disorder of sexdevelopment
: code 393
46 XX/46 XY chimerism
: code 199310
46 XY CGD
: code 242
46 XY DSD due to 5-alpha-reductase2 deficiency
: code 753
46 XY DSD due to LH resistance orLHB deficiency
: code 755
46 XY DSD due to LHB deficiency
: code 325448
46 XY DSD due to complete LHreceptor inactivation
: code 96265
46 XY DSD due to complete LHresistance
: code 96265
46 XY DSD due to completeluteinizing hormone receptor inactivation
: code 96265
46 XY DSD due to completeluteinizing hormone resistance
: code 96265
46 XY DSD due to luteinizing hormone resistance or luteinizinghormone beta subunit deficiency
: code 755
46 XY DSD due to luteinizinghormone subunit beta deficiency
: code 325448
46 XY DSD due to partial LHreceptor inactivation
: code 96266
46 XY DSD due to partial LHresistance
: code 96266
46 XY DSD due to partial luteinizinghormone resistance
: code 96266
46 XY PGD
: code 251510
46 XY complete gonadal dysgenesis
: code 242
1-alpha-hydroxylase deficiency
: code 289157
2 4-dienoyl-CoA reductasedeficiency
: code 431361
2 8-dihydroxyadenine urolithiasis
: code
2-aminoadipic 2-oxoadipic aciduria
: code 79154
2-methyl-3-hydroxybutyric aciduria
: code 391417
2-methyl-3-hydroxybutyric aciduria classic type
: code 391428
2-methyl-3-hydroxybutyric aciduria infantile type
: code 391428
2-methyl-3-hydroxybutyric aciduria neonatal type
: code 391457
2-methyl-3-hydroxybutyryl-CoAdehydrogenase deficiency
: code 391417
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency classictype
: code 391428
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency infantiletype
: code 391428
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency neonataltype
: code 391457
2-methylacyl-CoA racemasedeficiency
: code 79095
2-methylbutyric aciduria
: code 79157
2-methylbutyryl-CoAdehydrogenase deficiency
: code 79157
2-oxoglutarate complex deficiency
: code 255182
2A syndrome
: code 869
3-M syndrome
: code 2616
3-beta-hydroxy-delta-5-C27-steroidoxidoreductase deficiency
: code 79301
3-hydroxy-3-methylglutaric aciduria
: code 20
3-hydroxy-3-methylglutaryl-CoAlyase deficiency
: code 20
3-hydroxy-3-methylglutaryl-CoAsynthase deficiency
: code 35701
3-hydroxyisobutyric aciduria
: code 939
3-ketothiolase deficiency
: code 134
3-mercaptopyruvatesulfurtransferase deficiency
: code 1035
3-methylcrotonyl-CoA carboxylasedeficiency
: code 6
3-methylcrotonylglycinuria
: code 6
3-methylglutaconic aciduria type 1
: code 67046
3-methylglutaconic aciduria type 2
: code 111
3-methylglutaconic aciduria type 3
: code 67047
3-methylglutaconic aciduria type 4
: code 67048
3-methylglutaconic aciduria type 5
: code 66634
3-methylglutaconic aciduria type 7
: code 445038
46 XY disorder of sex developement due to partial LH receptorinactivation
: code 96266
46 XY disorder of sex developementdue to partial LH resistance
: code 96266
46 XY disorder of sex developement due to partial luteinizing hormoneresistance
: code 96266
46 XY disorder of sex development due to 17-beta-hydroxysteroiddehydrogenase 3 deficiency
: code 752
46 XY disorder of sex development due to 5-alpha-reductase 2deficiency
: code 753
46 XY disorder of sex development due to LH resistance or LHBdeficiency
: code 755
46 XY disorder of sex developmentdue to LHB deficiency
: code 325448
46 XY disorder of sex development due to complete LH receptorinactivation
: code 96265
46 XY disorder of sex developmentdue to complete LH resistance
: code 96265
46 XY disorder of sex development due to complete luteinizinghormone receptor inactivation
: code 96265
46 XY disorder of sex development due to complete luteinizinghormone resistance
: code 96265
46 XY disorder of sex development due to isolated 17 20-lyasedeficiency
: code 90796
46 XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormonebeta subunit deficiency
: code 755
46 XY disorder of sex development due to luteinizing hormone subunitbeta deficiency
: code 325448
46 XY disorder of sex development due to testicular 17 20-desmolasedeficiency
: code 443087
46 XY disorder of sex development- adrenal insufficiency due toCYP11A1 deficiency
: code 168558
46 XY gonadal dysgenesis-motorand sensory neuropathy syndrome
: code 168563
46 XY ovotesticular DSD
: code 325345
46 XY ovotesticular disorder of sexdevelopment
: code 325345
46 XY partial gonadal dysgenesis
: code 251510
46 XY partial testicular dysgenesis
: code 251510
46 XY pure gonadal dysgenesis
: code 242
47 XXX syndrome
: code 3375
47 XYY syndrome
: code 8
48 XXXX syndrome
: code 9
48 XXXY syndrome
: code 96263
48 XXYY syndrome
: code 10
48 XYYY syndrome
: code 99329
49 XXXXX syndrome
: code 11
49 XXXXY syndrome
: code 96264
49 XXXYY syndrome
: code 261534
49 XYYYY syndrome
: code 99330
1p21.3 microdeletion syndrome
: code 293948
1p31p32 microdeletion syndrome
: code 401986
1p35.2 microdeletion syndrome
: code 456298
1p36 deletion syndrome
: code 1606
1q21.1 microdeletion syndrome
: code 250989
1q21.1 microduplication syndrome
: code 250994
1q41-q42 microdeletion syndrome
: code 250999
1q41q42 microdeletion syndrome
: code 250999
1q44 microdeletion syndrome
: code 238769
2p13.2 microdeletion syndrome
: code 363680
2p15-p16.1 microdeletionsyndrome
: code 261349
2p15p16.1 microdeletion syndrome
: code 261349
2p21 deletion syndrome
: code 163693
2p21 microdeletion syndrome
: code 163693
2p21 microdeletion syndromewithout cystinuria
: code 369881
2q23.1 microdeletion syndrome
: code 228402
2q23.1 microduplication syndrome
: code 313947
2q24 microdeletion syndrome
: code 1617
2q31.1 microdeletion syndrome
: code 251014
2q31.1 microduplication syndrome
: code 294026
2q32-q33 microdeletion syndrome
: code 251019
2q32q33 microdeletion syndrome
: code 251019
2q33.1 microdeletion syndrome
: code 251028
2q37 microdeletion syndrome
: code 1001
3p- syndrome
: code 1620
3p25.3 microdeletion syndrome
: code 435638
3q subtelomere deletion syndrome
: code 65286
3qter deletion
: code 65286
3q13 microdeletion syndrome
: code 1621
3q26 microduplication syndrome
: code 96095
3q26-q27microdeletion syndrome
: code 356947
3q26q27 microdeletion syndrome
: code 356947
3q27.3 microdeletion syndrome
: code 397695
3q29 microdeletion syndrome
: code 65286
3q29 microduplication syndrome
: code 251038
4p- syndrome
: code 280
4p16.3 microduplication syndrome
: code 96072
4q21 microdeletion syndrome
: code 238750
4q25 proximal deletion syndrome
: code 502437
5p13 microduplication syndrome
: code 329802
5q- syndrome
: code 86841
5q14.3 microdeletion syndrome
: code 228384
5q23 microdeletion syndrome
: code 436003
5q31.3 microdeletion syndrome
: code 314655
5q35 microduplication syndrome
: code 228415
6p subtelomeric deletion syndrome
: code 96125
6p22 microdeletion syndrome
: code 251046
6p25 microdeletion syndrome
: code 96125
6q terminal deletion syndrome
: code 75857
6q16 deletion syndrome
: code 171829
6q25 microdeletion syndrome
: code 251056
7p22.1 microduplication syndrome
: code 314034
7q11.23 microduplicationsyndrome
: code 96121
7q31 microdeletion syndrome
: code 251061
459074
: code 459074
8p inverted duplication/deletionsyndrome
: code 96092
8p11 myeloproliferative syndrome
: code 168953
8p11.2 deletion syndrome
: code 251066
8p23.1 duplication syndrome
: code 251076
8p23.1 microdeletion syndrome
: code 251071
8q12 microduplication syndrome
: code 228399
8q13 microdeletion syndrome
: code 2496
8q21.11 microdeletion syndrome
: code 284160
8q22.1 microdeletion syndrome
: code 178303
8q24.3 deletion syndrome
: code 508488
9p deletion syndrome
: code 261112
9p- syndrome
: code 261112
9p13 microdeletion syndrome
: code 324313
9q subtelomeric deletion syndrome
: code 96147
9qSTDS
: code 96147
9q21 microdeletion syndrome
: code 352665
9q31.1q31.3 microdeletionsyndrome
: code 401923
9q33.3-q34.11 microdeletionsyndrome
: code 495818
9q33.3q34.11 microdeletionsyndrome
: code 495818
10p12p11 microdeletion syndrome
: code 284169
10q22.3q23.3 microdeletionsyndrome
: code 276413
10q22.3q23.3 microduplicationsyndrome
: code 276422
10q24 microduplication syndrome
: code 1307
11p11.2 deletion
: code 52022
11p15.4 microduplicationsyndrome
: code 300305
11q22.2-q22.3 deletion syndrome
: code 444002
11q22.2q22.3 microdeletionsyndrome
: code 444002
12p12.1 microdeletion syndrome
: code 313884
280325
: code 280325
12q14 microdeletion syndrome
: code 94063
12q15q21.1 microdeletionsyndrome
: code 289513
13q12.3 microdeletion syndrome
: code 412035
13q32 deletion
: code 1590
14q11.2 microdeletion syndrome
: code 261120
14q11.2 microduplicationsyndrome
: code 261229
14q12 microdeletion syndrome
: code 261144
14q22 microdeletion syndrome
: code 3157
14q22-q23 microdeletion syndrome
: code 264200
14q22q23 microdeletion syndrome
: code 264200
14q24.1q24.3 microdeletionsyndrome
: code 401935
14q32 duplication syndrome
: code 488280
15q overgrowth syndrome
: code 314585
15q11-q13 duplication syndrome
: code 238446
15q11-q13 microduplicationsyndrome
: code 238446
15q11.2 BP1-BP2 microdeletionsyndrome
: code 261183
15q11.2 microdeletion syndrome
: code 261183
15q11q13 duplication syndrome
: code 238446
15q11q13 microduplicationsyndrome
: code 238446
15q13.3 microdeletion syndrome
: code 199318
15q14 microdeletion syndrome
: code 261190
15q24 microdeletion syndrome
: code 94065
15q26 deletion syndrome
: code 1596
15q26.3 microdeletion syndrome
: code 363992
16p11.2-p12.2 microdeletionsyndrome
: code 261211
16p11.2p12.2 microdeletionsyndrome
: code 261211
16p11.2p12.2 microduplicationsyndrome
: code 261204
16p12.1p12.3 triplication syndrome
: code 485405
16p13.11 microdeletion syndrome
: code 261236
16p13.11 microduplicationsyndrome
: code 261243
16p13.2 microdeletion syndrome
: code 500055
16p13.3 microduplicationsyndrome
: code 96078
16q24.1 microdeletion syndrome
: code 352629
16q24.3 microdeletion syndrome
: code 261250
17p11.2 microdeletion syndrome
: code 819
17p11.2 microduplicationsyndrome
: code 1713
: code 477817
17p13.3 duplication syndrome
: code 217385
17p13.3 microduplicationsyndrome
: code 217385
17q11 microdeletion syndrome
: code 97685
17q11.2 microduplicationsyndrome
: code 139474
17q12 microdeletion syndrome
: code 261265
17q12 microduplication syndrome
: code 261272
17q21.31 microdeletion syndrome
: code 363958
17q21.31 microduplication
: code 217340
17q23.1-q23.2 microdeletionsyndrome
: code 261279
17q23.1q23.2 microdeletionsyndrome
: code 261279
: code 1598
18q deletion syndrome
: code 1600
18q- syndrome
: code 1600
19p13.12 microdeletion syndrome
: code 254346
19p13.13 microdeletion syndrome
: code 357001
19p13.3 microduplicationsyndrome
: code 447980
19q13.11 microdeletion syndrome
: code 217346
20p subtelomeric deletionsyndrome
: code 313781
20p12.3 microdeletion syndrome
: code 261295
20p13 microdeletion syndrome
: code 313781
20q11.2 microdeletion syndrome
: code 444051
20q11.2 microduplicationsyndrome
: code 363659
20q13.33 microdeletion syndrome
: code 261311
21q deletion syndrome
: code 574
21q- syndrome
: code 574
21q22.11-q22.12 microdeletionsyndrome
: code 261323
21q22.11q22.12 microdeletionsyndrome
: code 261323
21q22.13-q22.2 microdeletionsyndrome
: code 268261
21q22.13q22.2 microdeletionsyndrome
: code 268261
567
: code 567
22q11.2 deletion syndrome
: code 567
22q11.2 microduplicationsyndrome
: code 1727
22q13 deletion
: code 48652
AA amyloidosis
: code 85445
AAA syndrome
: code 869
AADC deficiency
: code 35708
AAE
: code 91385
AAE 2
: code 100055
AAE II
: code 100055
Aagenaes syndrome
: code 1414
AAOR
: code 284460
AApoAI amyloidosis
: code 93560
238269
: code 238269
439232
: code 439232
Aarskog syndrome
: code 915
Aarskog-like syndrome
: code 1974
Aarskog-Ose-Pande syndrome
: code 3163
Aarskog-Scott syndrome
: code 915
Aase syndrome
: code 124
Aase-Smith I syndrome
: code 916
Aase-Smith II syndrome
: code 124
916
: code 916
ABCB4 gene mutation-associatedcholelithiasis
: code 69663
ABCD syndrome
: code 897
Abdominal muscle deficiencysyndrome
: code 2970
Aberfeld syndrome
: code 800
ABeta2Mwt amyloidosis
: code 85446
ABeta amyloidosis Arctic type
: code 324723
ABeta amyloidosis Dutch type
: code 100006
ABeta amyloidosis Flemish type
: code 324718
ABeta amyloidosis Iowa type
: code 324708
324713
: code ABeta amyloidosis Piedmont type
324703
: code ABetaA21G amyloidosis
324718
: code ABetaA21G-related amyloidosis
324718
: code ABetaD23N amyloidosis
324708
: code 324708
ABetaE22G amyloidosis
: code 324723
ABetaE22K amyloidosis
: code 324713
ABetaE22Q amyloidosis
: code 100006
ABetaL34V amyloidosis
: code 324703
ABetaL34V-related amyloidosis
: code 324703
Abetalipoproteinemia
: code 14
920
: code 920
99089
: code Abnormal origin of right or leftpulmonary artery from the aorta
99050
: code ABPA
: code ABri amyloidosis
97345
: code Abruzzo-Erickson syndrome
921
: code 921
69739
: code 69739
2310
: code Absence of brachiocephalic vein
Absence of dermatoglyphics-congenital milia syndrome
: code Absence of dermatoglyphics-congenital milia syndrome
Absence of fingerprints-congenitalmilia syndrome
: code Absence of fingerprints-congenitalmilia syndrome
1658
: code Absence of innominate vein
99112
: code Absence of pulmonary valve-Fallot tetralogy-absence of ductusarteriosus syndrome
101206
: code Absence of pulmonary valve- ventricular septal defect-persistentductus arteriosus syndrome
Absence of the pulmonary artery
: code 980
Absence of the superior caval vein
: code 99114
99114
: code 99114
99114
: code 99114
Absence of the SVC
: code 99114
Absent eyebrows and eyelashes-intellectual disability syndrome
: code 2985
Absent patellae-scrotal hypoplasia- renal anomalies-facial dysmorphism-intellectual disabilitysyndrome
: code 85201
Absent radius-anogenital anomaliessyndrome
: code 3016
Absent thumb-short stature-immunodeficiency syndrome
: code 2951
Absent tibia-polydactyly syndrome
: code 988
Absent tibia-polydactyly-arachnoidcyst syndrome
: code 3328
ABSN
: code 225147
ACAD9 deficiency
: code 99901
ACADM deficiency
: code 42
ACADS deficiency
: code 26792
945
: code Acanthamoeba keratitis
Acanthokeratolytic verrucous nevus
: code 79468
Acanthoma of the nail matrix
: code 300504
Acanthosis nigricans-insulin resistance-muscle cramps-acralenlargement syndrome
: code 90301
Acatalasemia
: code 926
ACC-abnormal genitalia syndrome
: code 2508
Accelerated skeletal maturation- facial dysmorphism-failure to thrivesyndrome
: code 561
Accessory breasts
: code 180182
Accessory mitral valve tissue
: code 99061
Accessory nostril
: code 141096
Accessory pancreas
: code 674
Accessory tricuspid valve tissue
: code 95462
ACD-intellectual disabilitysyndrome
: code 1005
ACDMPV
: code 210122
ACER3-related early childhood-onset progressive leukodystrophy
: code 502444
Aceruloplasminemia
: code 48818
Acetaminophen poisoning
: code 464458
Acetazolamide-responsivecongenital myotonia
: code 99736
Acetazolamide-responsivemyotonia
: code 99736
ACFS
: code 2008
Achalasia cardia
: code 930
Achalasia-addisonianism-alacrimasyndrome
: code 869
Achalasia-alacrimia syndrome
: code 869
Achalasia-microcephaly syndrome
: code 929
Acheiria
: code 294983
Acheiropodia
: code 931
Acheiropody
: code 931
49382
: code 49382
Achondrogenesis
: code 932
Achondrogenesis type 1A
: code 93299
Achondrogenesis type 1B
: code 93298
Achondrogenesis type 2
: code 93296
Achondrogenesis Houston-Harristype
: code 93299
Achondrogenesis Langer-Saldinotype
: code 93296
Achondrogenesis Parenti-Fraccarotype
: code 93298
Achondroplasia
: code 15
Achondroplasia-SCID syndrome
: code 935
Achondroplasia-severe combinedimmunodeficiency syndrome
: code 935
Achondroplasia-Swiss typeagammaglobulinemia syndrome
: code 935
Achromatopsia
: code 49382
Acid beta-glucosidase deficiency
: code 355
Acid ceramidase deficiency
: code 333
Acinar cell carcinoma of pancreas
: code 424046
Acitretin/etretinate embryopathy
: code 40366
Ackerman dermatitis syndrome
: code 79099
Ackerman fused molar roothsyndrome
: code 2561
Ackerman syndrome
: code 79099
ACNES
: code 51890
Aconitase deficiency
: code 43115
Acoustic neurilemoma
: code 252175
Acoustic neurinoma
: code 252175
Acoustic neuroma
: code 252175
ACPS2
: code 65759
ACPS4
: code 65798
Acquired adult-onsetimmunodeficiency
: code 306431
Acquired aneurysmal subarachnoidhemorrhage
: code 90065
Acquired angioedema
: code 91385
Acquired angioedema type 1
: code 100056
Acquired angioedema type 2
: code 100055
Acquired angioneurotic edema
: code 91385
Acquired angioneurotic edema type1
: code 100056
Acquired angioneurotic edema type2
: code 100055
Acquired bradykinine-inducedangioedema
: code 91385
Acquired C1 inhibitor deficiency
: code 91385
Acquired CDI
: code 95626
Acquired central diabetes insipidus
: code 95626
Acquired Creutzfeldt-Jakob disease
: code 454700
Acquired cutis laxa
: code 228285
: code 404514
Acquired epidermolysis bullosa
: code 46487
Acquired epileptic aphasia
: code 98818
Acquired Fanconi syndrome secondary to monoclonalgammopathy
: code 91136
Acquired generalized lipodystrophy
: code 79086
Acquired Gronblad-Strandberg-Touraine syndrome
: code 228247
Acquired HbH disease
: code 231401
Acquired hemoglobin H disease
: code 231401
Acquired hemophagocytic lymphohistiocytosis associated withmalignant disease
: code 158057
Acquired hemophilia
: code 73274
Acquired hypertrichosis lanuginosa
: code 2221
Acquired hypoprothrombinemia
: code 26348
454
: code 454
Acquired idiopathic sideroblasticanemia
: code 75564
Acquired kinky hair syndrome
: code 37559
Acquired lipoatrophic diabetes
: code 79086
Acquired methemoglobinemia
: code 464453
Acquired monoclonal Ig light chain-associated Fanconi syndrome
: code 91136
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome
: code 91136
Acquired myasthenia
: code 589
Acquired neurogenic diabetesinsipidus
: code 95626
Acquired neuromyotonia
: code 84142
Acquired non histamine-inducedangioedema
: code 91385
Acquired partial lipodystrophy
: code 79087
Acquired porencephaly
: code 314697
729
: code 729
Acquired prothrombin deficiency
: code 26348
Acquired pseudoxanthomaelasticum
: code 228247
Acquired purpura fulminans
: code 49566
Acquired PXE
: code 228247
Acquired rippling muscle disease
: code 206575
Acquired schizencephaly
: code 485275
Acquired thromboticthrombocytopenic purpura
: code 93585
Acquired TTP
: code 93585
Acquired von Willebrand disease
: code 99147
Acquired von Willebrand syndrome
: code 99147
Acral deciduous skin
: code 263534
Acral dysostosis with facial andgenital abnormalities
: code 97360
Acral dystrophic epidermolysisbullosa
: code 158673
Acral peeling skin syndrome
: code 263534
Acral persistent papular mucinosis
: code 90396
Acral PSS
: code 263534
Acral self-healing collodion baby
: code 281127
Acral SHCB
: code 281127
Acro-dermato-ungual-lacrimal-tooth syndrome
: code 978
Acro-renal-mandibular syndrome
: code 958
Acro-renal-ocular syndrome
: code 959
Acrocallosal syndrome
: code 36
Acrocapitofemoral dysplasia
: code 63446
2008
: code 2008
Acrocephalopolydactylousdysplasia
: code 221054
Acrocephalopolydactyly
: code 221054
Acrocephalopolysyndactyly type 2
: code 65759
Acrocephalopolysyndactyly type 4
: code 65798
Acrocephalosyndactyly type 1
: code 87
Acrocephalosyndactyly type 3
: code 794
Acrocephalosyndactyly type 5
: code 710
Acrocephaly
: code 63440
Acrocraniofacial dysostosis
: code 949
Acrodentoosteodysplasia
: code 955
163931
: code Acrodermatitis enteropathica
37
: code Acrodermatitis enteropathica zincdeficiency type
37
: code 37
: code 978
Acrodysostosis
: code 950
Acrodysostosis with multiplehormone resistance
: code 280651
Acrodysplasia
: code 950
Acrodysplasia scoliosis
: code 2956
Acrofacial dysostosis Catania type
: code 1786
Acrofacial dysostosis Genee-Wiedmann type
: code 246
Acrofacial dysostosis Kennedy-Teebi type
: code 64542
Acrofacial dysostosis Palagoniatype
: code 1787
Acrofacial dysostosis Rodrígueztype
: code 1788
Acrofacial dysostosis Weyers type
: code 952
Acrofrontofacionasal dysostosis
: code 1784
Acrofrontofacionasal dysostosistype 2
: code 2211
Acrofrontofacionasal syndrometype 2
: code 2211
Acrogeria
: code 2500
Acrogeria Gottron type
: code 2500
Acrokeratoelastoidosis of Costa
: code 38
Acrokeratosis of Bazex
: code 166113
Acrokeratosis paraneoplastica
: code 166113
Acrokeratosis paraneoplastica ofBazex
: code Acrokeratosis verruciformis of Hopf
79151
: code 79151
965
: code 965
Acromegaly
: code 963
Acromegaly-cutis verticis gyrata-corneal leukoma syndrome
: code 2796
Acromelanosis
: code 39
Acromelic frontonasal dysostosis
: code 1827
Acromelic frontonasal dysplasia
: code 1827
Acromesomelic dwarfism
: code 968
Acromesomelic dysplasia Grebetype
: code 2098
968
: code 968
40
: code 40
2500
: code 2500
969
: code 969
Acroosteolysis dominant type
: code 955
Acroosteolysis with osteoporosisand changes in skull and mandible
: code 955
Acroosteolysis-keloid-like lesions-premature aging syndrome
: code 363665
Acrootoocular syndrome
: code 2980
Acropectoral syndrome
: code 85203
Acropectororenal dysplasia
: code 956
957
: code Acropigmentation of Dohi
41
: code Acrorenal defect-ectodermaldysplasia-diabetes syndrome
1133
: code 1133
971
: code ACRP syndrome
85203
: code ACS
36
: code 36
87
: code 87
794
: code 794
710
: code 710
: code 98904
Actinic lichen planus
: code 254395
Actinic LP
: code 254395
Actinic prurigo
: code 330061
330064
: code 330064
Actinomycosis
: code 457095
Action myoclonus-renal failuresyndrome
: code 163696
Activated PI3K-delta syndrome
: code 397596
Activation-induced cytidinedeaminase deficiency
: code 101089
Acute ackee fruit intoxication
: code 73423
Acute adrenal failure
: code 95409
Acute adrenal insufficiency
: code 95409
Acute adrenocortical insufficiency
: code 95409
Acute and disseminated Langerhanscell histiocytosis
: code 99870
Acute annular outer retinopathy
: code 284460
Acute basophilic leukemia
: code 86849
Acute bilateral striatal necrosis
: code 225147
98837
: code Acute brachial plexus neuritis
2901
: code Acute disseminated encephalitis
83597
: code
83597
: code 83597
163703
: code 163703
363549
: code 363549
279888
: code 279888
Acute erythroid leukemia
: code 318
Acute fatty liver of pregnancy
: code 243367
Acute febrile neutrophilicdermatosis
: code 3243
Acute generalized exanthematouspustulosis
: code 293173
Acute graft versus host disease
: code 99920
Acute hepatic failure
: code 90062
Acute idiopathic demyelinatingpolyneuropathy
: code 98916
Acute infantile encephalopathy predominantly affecting the frontallobes
: code 363549
217371
: code 217371
: code Acute infantile liver failure- cerebellar ataxia-peripheral sensorymotor neuropathy syndrome
466794
: code Acute infantile liver failure- multisystemic involvementsyndrome
370088
: code 370088
98916
: code 98916
98916
: code 98916
Acute intermittent porphyria
: code 79276
Acute interstitial pneumonia
: code 79126
Acute interstitial pneumonitis
: code 79126
Acute intoxication by Blighia sapida
: code 73423
Acute liver failure
: code 90062
Acute lung injury
: code 178320
Acute macular neuroretinopathy
: code 488239
Acute megakaryoblastic leukemia
: code 518
Acute megakaryoblastic leukemiain Down syndrome
: code 99887
Acute megakaryoblastic leukemiawithout Down syndrome
: code 329469
Acute megakaryocytic leukemia
: code 518
Acute monoblastic leukemia
: code 514
Acute monocytic leukemia
: code 514
98917
: code 98917
Acute motor axonal neuropathy
: code 98918
Acute motor-sensory axonal GBS
: code 98917
Acute motor-sensory axonalGuillain-Barré syndrome
: code 98917
Acute multiple sclerosis Marburgtype
: code 228157
Acute multiple sclerosis Marburgvariant
: code 228157
Acute myeloblastic leukemia 3
: code 520
Acute myeloblastic leukemia M1
: code 98833
Acute myeloblastic leukemia M2
: code 98834
Acute myeloblastic leukemia withmaturation
: code 98834
Acute myeloblastic leukemiawithout maturation
: code 98833
Acute myelodysplasia withmyelofibrosis
: code 86843
Acute myelofibrosis
: code 86843
Acute myeloid leukaemia withmyelodysplasia-related features
: code 86845
Acute myeloid leukemia and myelodysplastic syndromes relatedto alkylating agent
: code 102379
Acute myeloid leukemia and myelodysplastic syndromes relatedto radiation
: code 164726
102381
: code 102381
Acute myeloid leukemia M6
: code 318
Acute myeloid leukemia M7
: code 518
Acute myeloid leukemia with 11q23abnormalities
: code 98831
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) ort(16;16)(p13;q22)
: code 98829
Acute myeloid leukemia withCEBPA somatic mutations
: code 319480
Acute myeloid leukemia withinv3(q21;q26.2) or t(3;3)(q21;q26.2)
: code 402020
98832
: code 98832
Acute myeloid leukemia withmultilineage dysplasia
: code 86845
Acute myeloid leukemia with NPM1somatic mutations
: code 402026
Acute myeloid leukemia witht(6;9)(p23;q34)
: code 402014
Acute myeloid leukemia witht(8;16)(p11;p13) translocation
: code 370026
Acute myeloid leukemia witht(8;21)(q22;q22) translocation
: code 102724
Acute myeloid leukemia witht(9;11)(p22;q23)
: code 402017
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha)and variants
: code 520
Acute myeloid leukemia minimaldifferentiation FAB M0
: code 98835
Acute myelomonocytic leukemia
: code 517
Acute myelosclerosis
: code 86843
Acute necrotizing encephalopathyof childhood
: code 263524
Acute neonatal citrullinemia type 1
: code 247546
Acute neonatal citrullinemia type I
: code 247546
Acute neuronopathic Gaucherdisease
: code 77260
Acute non-herpetic encephalitis with severe refractory statusepilepticus
: code 163703
Acute opioid poisoning
: code 35889
Acute panautonomic GBS
: code 231457
Acute panautonomic Guillain-Barrésyndrome
: code 231457
Acute panautonomic neuropathy
: code 231457
Acute pandysautonomia
: code 231457
Acute panmyelosis withmyelofibrosis
: code 86843
Acute peripheral arterial occlusion
: code 90064
Acute poisoning by drugs withmembrane-stabilizing effect
: code 43119
520
: code 520
Acute pure motor GBS
: code 98918
Acute pure motor Guillain-Barrésyndrome
: code 98918
Acute pure sensory GBS
: code 231450
Acute pure sensory Guillain-Barrésyndrome
: code 231450
Acute pure sensory neuropathy
: code 231450
Acute radiation sickness
: code 454831
Acute radiation syndrome
: code 454831
Acute respiratory coronavirusinfection
: code 140896
Acute rheumatic fever
: code 3099
Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery inducedacoustic trauma
: code 90059
Acute sensory ataxic GBS
: code 231466
Acute sensory ataxic Guillain-Barrésyndrome
: code 231466
Acute sensory ataxic neuropathy
: code 231466
Acute transverse myelitis
: code 139417
Acute tricyclic antidepressantpoisoning
: code 43117
Acute tubulointerstitial nephritisand uveitis syndrome
: code 91500
Acute undifferentiated leukemia
: code 98835
Acute zonal occult outerretinopathy
: code 284454
ACY1D
: code 137754
ACY2 deficiency
: code 141
Acyl-CoA dehydrogenase 9deficiency
: code 99901
ACys amyloidosis
: code 100008
99736
: code 99736
ACZ-responsive myotonia
: code 99736
AD dRTA
: code 93608
AD hypocalcemia
: code 428
AD pRTA
: code 314889
AD-CNM
: code 169189
AD-HED
: code 1810
AD-HIES
: code 2314
AD-SPG9A
: code 447753
AD-SPG9B
: code 447757
ADA deficiency
: code 277
Adactyly of hand unilateral
: code 973
Adair-Dighton syndrome
: code 216796
Adamantinoma
: code 55881
Adamantinoma of long bones
: code 55881
Adams-Oliver syndrome
: code 974
ADan amyloidosis
: code 97346
ADANE
: code 88619
ADCA-DN syndrome
: code 314404
ADCL
: code 90348
ADCME
: code 86814
Addison disease
: code 85138
Addisonian crisis
: code 95409
Adducted thumb-clubfootsyndrome
: code 2953
Adducted thumbs-arthrogryposissyndrome Christian type
: code 2952
ADEAF
: code 101046
ADEM
: code 83597
Adenine phosphoribosyltransferasedeficiency
: code 976
Adenocarcinoma of ovary
: code 213504
Adenocarcinoma of the anal canal
: code 424016
Adenocarcinoma of the cervix uteri
: code 213772
Adenocarcinoma of the esophagus
: code 99976
Adenocarcinoma of the gallbladderand EBT
: code 424991
Adenocarcinoma of the gallbladderand extrahepatic biliary tract
: code 424991
Adenocarcinoma of the liver andIBT
: code 424943
Adenocarcinoma of the liver andintrahepatic biliary tract
: code 424943
Adenocarcinoma of the paratestis
: code 363478
Adenocarcinoma of the penis
: code 398053
Adenocarcinoma of the small bowel
: code 104075
Adenocarcinoma of the smallinstestine
: code 104075
Adenocarcinoma of the vulva
: code 494454
Adenohypophysitis
: code 95512
Adenoid basal carcinoma of thecervix uteri
: code 213828
Adenoid cystic carcinoma of thecervix uteri
: code 213823
Adenoid cystic carcinoma of thecorpus uteri
: code 213741
Adenoma of the pancreas
: code 93292
Adenomucinosis
: code 26790
Adenosarcoma of the cervix uteri
: code 213792
Adenosarcoma of the corpus uteri
: code 213600
Adenosine monophosphatedeaminase deficiency
: code 45
Adenosylcobalamin deficiency
: code 28
Adenovirus infection inimmunocompromised patients
: code 91127
Adenylosuccinase deficiency
: code 46
Adenylosuccinate lyase deficiency
: code 46
Adenylosuccinate synthetase-like 1-related distal myopathy
: code 482601
Adhesive arachnoiditis
: code 137817
ADHR
: code 89937
Adie syndrome
: code 454718
Adiposalgia
: code 36397
Adipose tissue rheumatism
: code 36397
Adiposis dolorosa
: code 36397
ADK hypermethioninemia
: code 289290
ADLD
: code 99027
ADLTE
: code 101046
ADMERF
: code 178464
ADNFLE
: code 98784
ADNIV
: code 329211
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
: code 404448
Adolescent benign focal crisis
: code 1544
ADOS
: code 306588
ADP platelet receptor P2Y12 defect
: code 36355
ADPCLD
: code 2924
ADPEAF
: code 101046
adPEO
: code 254892
ADPKD
: code 730
Adrenal crisis
: code 95409
Adrenal insufficiency-achalasia-alacrima syndrome
: code 869
Adrenocortical carcinoma
: code 1501
Adrenocortical carcinoma with purealdosterone hypersecretion
: code 231625
Adrenocortical crisis
: code 95409
Adrenocorticotropic hormonesecretion syndrome
: code 99889
Adrenomyeloneuropathy
: code 139399
Adrenomyodystrophy
: code 977
ADSD
: code 228169
ADSL deficiency
: code 46
ADSSL1-related distal myopathy
: code 482601
ADTKD
: code 34149
ADTKD-MUC1
: code 88949
ADTKD-REN
: code 217330
ADTKD-UMOD
: code 88950
Adult acute respiratory distresssyndrome
: code 70578
Adult ARDS
: code 70578
Adult Bartter syndrome
: code 93605
Adult basal ganglia disease
: code 157846
Adult cardiac tumor
: code 874
Adult dermatomyositis
: code 221
Adult familial nephronophthisis-spastic quadriparesia syndrome
: code 2666
Adult GM2 gangliosidosis 0 variant
: code 309169
Adult HCC
: code 210159
Adult heart tumor
: code 874
Adult hepatocellular carcinoma
: code 210159
Adult hypophosphatasia
: code 247676
Adult idiopathic neutropenia
: code 2688
Adult intestinal botulism
: code 178487
Adult intestinal colonizationbotulism
: code 178487
Adult intestinal toxemia botulism
: code 178487
Adult intestinal toxin-mediatedbotulism
: code 178487
Adult Krabbe disease
: code 206448
Adult NCL
: code 79262
Adult neuronal ceroid lipofuscinosis
: code 79262
Adult phosphoethanolaminuria
: code 247676
Adult polyglucosan body disease
: code 206583
Adult progeria
: code 902
Adult pulmonary Langerhans cellhistiocytosis
: code 99874
Adult pure red cell aplasia
: code 98872
Adult Rathburn disease
: code 247676
Adult Refsum disease
: code 773
ADULT syndrome
: code 978
Adult T-cell leukemia/lymphoma
: code 86875
Adult-onset acquired myasthenia
: code 391490
Adult-onset Alpha-N-acetylgalactosaminidase deficiency
: code 79280
Adult-onset autoimmunemyasthenia gravis
: code 391490
Adult-onset autosomal dominantdemyelinating leukodystrophy
: code 99027
Adult-onset autosomal dominantleukodystrophy
: code 99027
Adult-onset autosomal recessivecerebellar ataxia
: code 284289
Adult-onset autosomal recessivesideroblastic anemia
: code 255132
Adult-onset cervical dystonia DYT23 type
: code 420492
Adult-onset chronic progressive external ophthalmoplegia withmitochondrial myopathy
: code 329336
Adult-onset citrin deficiency
: code 247585
Adult-onset citrullinemia type 1
: code 247573
Adult-onset citrullinemia type 2
: code 247585
Adult-onset citrullinemia type I
: code 247573
Adult-onset citrullinemia type II
: code 247585
Adult-onset CPEO withmitochondrial myopathy
: code 329336
Adult-onset cystinosis
: code 411641
Adult-onset distal myopathy due toVCP mutation
: code 329478
Adult-onset dystonia-parkinsonism
: code 199351
Adult-onset foveomaculardystrophy
: code 99000
Adult-onset foveomacular dystrophy with choroidalneovascularization
: code 99000
Adult-onset foveomacularvitelliform dystrophy
: code 99000
Adult-onset GM1 gangliosidosis
: code 79257
Adult-onset immunodeficiency with anti-interferon-gammaautoantibodies
: code 306431
Adult-onset leukoencephalopathy with axonal spheroids andpigmented glia
: code 313808
Adult-onset multiple mitochondrial DNA deletion syndrome due toDGUOK deficiency
: code 329314
Adult-onset multiple mtDNA deletion syndrome due to DGUOKdeficiency
: code 329314
Adult-onset myasthenia gravis
: code 391490
Adult-onset nemaline myopathy
: code 171442
Adult-onset non-insulinoma persistent hyperinsulinemichypoglycemia
: code 276608
Adult-onset overlap myositis
: code 206572
Adult-onset PLS
: code 35689
Adult-onset primary lateralsclerosis
: code 35689
Adult-onset Still disease
: code 829
Adult-onset vitelliform maculardystrophy
: code 99000
ADVIRC
: code 3086
Adynamia episodica hereditaria
: code 682
AEC syndrome
: code 1071
AEI
: code 281139
AERRPS
: code 163703
AESD
: code 363549
AEXS
: code 178345
AEZ
: code 37
AFAP
: code 220460
AFG3L2-related spastic ataxia- myoclonic epilepsy-neuropathysyndrome
: code 313772
AFib amyloidosis
: code 93562
AFLP
: code 243367
AFND
: code 1827
AFP
: code 398147
African iron overload
: code 139507
African tick typhus
: code 101334
African trypanosomiasis
: code 3385
Agammaglobulinemia non-Brutontype
: code 33110
Agammaglobulinemia- microcephaly-craniosynostosis-severe dermatitis syndrome
: code 83617
Aganglionic megacolon
: code 388
AGAT deficiency
: code 35704
AGC1 deficiency
: code 353217
AGel amyloidosis
: code 85448
Agenesis and aplasia of uterinebody
: code 180142
Agenesis of corpus callosum withchorioretinal abnormality
: code 50
Agenesis of the superior caval vein
: code 99114
Agenesis of the superior vena cava
: code 99114
Agenesis of the SVC
: code 99114
AGEP
: code 293173
Aggressive fibromatosis
: code 873
Aggressive NK-cell leukemia
: code 86873
Aggressive NK-cell lymphoma
: code 86873
Aggressive systemic mastocytosis
: code 98850
Aglossia-adactylia syndrome
: code 989
Agnathia-holoprosencephaly-situsinversus syndrome
: code 990
Agnogenic myeloid metaplasia
: code 824
Agramatic variant of PPA
: code 100070
Agramatic variant of primaryprogressive aphasia
: code 100070
AH amyloidosis
: code 442582
AHC
: code 2131
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
: code 412069
AHDS
: code 59
Ahn-Lerman-Sagie syndrome
: code 50812
AHO-PHP syndrome Ia
: code 79443
AHO-PPHP syndrome
: code 79445
aHUS
: code 2134
aHUS with anti-factor H antibodies
: code 93581
aHUS with B factor anomaly
: code 93578
aHUS with C3 anomaly
: code 93575
aHUS with DGKE deficiency
: code 357008
aHUS with H factor anomaly
: code 93579
aHUS with I factor anomaly
: code 93580
aHUS with MCP/CD46 anomaly
: code 93576
aHUS with thrombomodulinanomaly
: code 217023
AICA-ribosiduria
: code 250977
Aicardi syndrome
: code 50
Aicardi-Goutires syndrome
: code 51
AID deficiency
: code 101089
AIDP
: code 98916
AIDS wasting syndrome
: code 90081
AIED
: code 178333
AIEF
: code 363549
AILT
: code 86886
AIP
: code 103919
AIP type 1
: code 280302
AIP type 2
: code 280315
AISA
: code 75564
AK2 deficiency
: code 33355
AKE
: code 38
Akesson syndrome
: code 357225
AKT2-related familial partiallipodystrophy
: code 79085
AKT2-related FPLD
: code 79085
AKV of Hopf
: code 79151
AL amyloidosis
: code 85443
Al Awadi-Farag-Teebi syndrome
: code 2232
Al Awadi-Raas-Rothschildsyndrome
: code 2879
Al Frayh-Facharzt-Haque syndrome
: code 3157
Al Gazali-Al Talabani syndrome
: code 2725
Al Gazali-Aziz-Salem syndrome
: code 2865
Al Gazali-Donnai-Muller syndrome
: code 2153
Al Gazali-Lytle syndrome
: code 2725
Al Gazali-Nair syndrome
: code 2773
Al-Gazali-Dattani syndrome
: code 324737
Alacrimia-choreoathetosis-liverdysfunction syndrome
: code 404454
ALAD porphyria
: code 100924
Alagille syndrome
: code 52
Alagille syndrome due to 20p12microdeletion
: code 261600
Alagille syndrome due to a JAG1point mutation
: code 261619
Alagille syndrome due to a NOTCH2point mutation
: code 261629
Alagille syndrome due todel(20)(p12)
: code 261600
Alagille syndrome due tomonosomy 20p12
: code 261600
Alagille-Watson syndrome
: code 52
Alagille-Watson syndrome due to aJAG1 point mutation
: code 261619
Alagille-Watson syndrome due to aNOTCH2 point mutation
: code 261629
Alagille-Watson syndrome due tomonosomy 20p12
: code 261600
land Islands eye disease
: code 178333
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
: code 2007
Alar cleft
: code 141242
Alar rim cleft
: code 141242
Alazami syndrome
: code 319671
Albers-Schnberg osteopetrosis
: code 53
Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafnesssyndrome
: code 897
Albinism-deafness syndrome
: code 998
Albright hereditary osteodystrophy
: code 457059
Albright hereditary osteodystrophytype 3
: code 1001
Albright hereditary osteodystrophy-like syndrome
: code 1001
Albright hereditary osteodystrophy-PHP syndrome Ia
: code 79443
Albright hereditary osteodystrophy-PPHP syndrome
: code 79445
ALCL
: code 98841
Alcock syndrome
: code 60039
Alcohol-related birth defects
: code 1915
Alcohol-relatedneurodevelopmental disorder
: code 1915
Alcohol-responsive dystonia
: code 36899
ALD
: code 43
ALDD syndrome
: code 324977
ALDH18A1-related De Barsysyndrome
: code 35664
Aldosterone synthase deficiency
: code 99763
Aldosterone synthase deficiencyunrelated to CYP11B2
: code 99764
Aldosterone synthase deficiency unrelated to the aldosteronesynthase gene
: code 99764
Aldosterone-producing adenoma with seizures and neurologicalabnormalities
: code 369929
Aldosterone-secreting adenoma with seizures and neurologicalabnormalities
: code 369929
Aldred syndrome
: code 85332
ALECT2 amyloidosis
: code 439224
Aleukemic mast cell leukemia
: code 158799
Alexander disease
: code 58
Alexander disease type I
: code 363717
Alexander disease type II
: code 363722
Alfi syndrome
: code 261112
ALG1-CDG
: code 79327
ALG2-CDG
: code 79326
ALG3-CDG
: code 79321
ALG6-CDG
: code 79320
ALG8-CDG
: code 79325
ALG9-CDG
: code 79328
ALG11-CDG
: code 280071
ALG12-CDG
: code 79324
ALG13-CDG
: code 324422
Algodystrophy
: code 99995
ALK+ ALCL
: code 300895
ALK+ anaplastic large celllymphoma
: code 300895
ALK+ large B-cell lymphoma
: code 364043
ALK+ LBCL
: code 364043
ALK- ALCL
: code 300903
ALK- anaplastic large cell lymphoma
: code 300903
ALK-negative anaplastic large celllymphoma
: code 300903
ALK-positive anaplastic large celllymphoma
: code 300895
ALK-positive large B-cell lymphoma
: code 364043
Alkaline ceramidase 3 deficiency
: code 502444
Alkaptonuria
: code 56
Allan-Herndon-Dudley syndrome
: code 59
Allergic aspergillosis
: code 1164
Allergic bronchopulmonaryaspergillosis
: code 1164
Allgrove syndrome
: code 869
Alloimmune neonatal renal disease
: code 69063
Alobar holoprosencephaly
: code 93925
Alopecia antibody deficiency
: code 1006
Alopecia totalis
: code 700
Alopecia universalis
: code 701
Alopecia-anosmia-conductive hearing loss-hypogonadismsyndrome
: code 2316
Alopecia-anosmia-deafness-hypogonadism syndrome
: code 2316
Alopecia-contractures-dwarfism-intellectual disability syndrome
: code 1005
Alopecia-deafness-hypogonadismsyndrome
: code 202
Alopecia-epilepsy-intellectualdisability syndrome Moynahan type
: code 2574
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
: code 1008
Alopecia-hypogonadism-extrapyramidal syndrome
: code 3464
Alopecia-intellectual disabilitysyndrome
: code 2850
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
: code 1014
Alopecia-progressive neurologicaldefect-endocrinopathy syndrome
: code 157954
Alopecia-sensorineural deafness-hypogonadism syndrome
: code 202
Alpers progressive sclerosingpoliodystrophy
: code 726
Alpers syndrome
: code 726
Alpers-Huttenlocher syndrome
: code 726
Alpha delta granule deficiency
: code 734
Alpha dense granule deficiency
: code 734
Alpha methylacetoacetic aciduria
: code 134
Alpha storage pool deficiency
: code 721
Alpha thalassemia-intellectualdisability syndrome deletion type
: code 98791
Alpha thalassemia-mentalretardation syndrome
: code 98791
Alpha-1 4-glucosidase aciddeficiency
: code 365
Alpha-1 4-glucosidase aciddeficiency infantile onset
: code 308552
Alpha-1 4-glucosidase aciddeficiency late-onset
: code 420429
Alpha-1-antitrypsin deficiency
: code 60
Alpha-aminoadipic aciduria
: code 79154
Alpha-B crystallin-related late-onset distal myopathy
: code 399058
Alpha-galactosidase A deficiency
: code 324
Alpha-HCD
: code 100025
Alpha-heavy chain disease
: code 100025
Alpha-ketoglutaratedehydrogenase deficiency
: code 31
Alpha-L-fucosidase deficiency
: code 349
Alpha-L-iduronidase deficiency
: code 579
Alpha-mannosidosis
: code 61
Alpha-mannosidosis adult form
: code 309288
Alpha-mannosidosis infantile form
: code 309282
Alpha-methyl-acetoacetyl-CoAthiolase deficiency
: code 134
Alpha-methyl-acyl-CoA racemasedeficiency
: code 79095
Alpha-N-acetylgalactosaminidasedeficiency
: code 3137
Alpha-N-acetylgalactosaminidasedeficiency type 1
: code 79279
Alpha-N-acetylgalactosaminidasedeficiency type 2
: code 79280
Alpha-N-acetylgalactosaminidasedeficiency type 3
: code 79281
Alpha-sarcoglycanopathy
: code 62
Alpha-thalassemia
: code 846
Alpha-thalassemia hydrops fetalis
: code 163596
Alpha-thalassemia intermedia
: code 93616
Alpha-thalassemia major
: code 163596
Alpha-thalassemia-intellectual disability syndrome linked tochromosome 16
: code 98791
Alpha-thalassemia-myelodysplasticsyndrome
: code 231401
Alpha-thalassemia-X-linkedintellectual disability syndrome
: code 847
Alport deafness-nephropathy
: code 63
Alport syndrome
: code 63
Alport syndrome with leukocyteinclusions and
: code 182050
Alport syndrome withmacrothrombocytopenia
: code 182050
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
: code 86818
ALPS
: code 3261
ALPS due to CTLA4 haploinsuffiency
: code 436159
ALPS with recurrent viral infections
: code 275517
ALS
: code 803
ALS4
: code 357043
ALSG
: code 86815
ALSP
: code 313808
Alstrm syndrome
: code 64
ALT
: code 99971
Alternating hemiplegia of childhood
: code 2131
Alveolar capillary dysplasia withmisalignment of pulmonary veins
: code 210122
Alveolar capillary dysplasia withmisalignment of pulmonary vessels
: code 210122
Alveolar cleft lip and palate
: code 199306
Alveolar echinococcosis
: code 284
Alveolar rhabdomyosarcoma
: code 99756
Alveolar soft part sarcoma
: code 163699
Alveolar soft tissue sarcoma
: code 163699
Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome
: code 1071
ALX1-related frontonasal dysplasia
: code 306542
ALX3-related frontonasal dysplasia
: code 391474
ALX4-related FNDAG
: code 228390
Alymphoid cystic thymic dysgenesis
: code 169095
ALys amyloidosis
: code 93561
AMACR deficiency
: code 79095
AMAN
: code 98918
Amaurosis congenita of Leber
: code 65
Amaurosis-hypertrichosis syndrome
: code 1021
Ambiguous genitalia-disordered steroidogenesis Antley-Bixler-likesyndrome
: code 95699
Ambras syndrome
: code 1023
Amelia of lower limb
: code 294969
Amelia of upper limb
: code 294967
Ameloblastic carcinoma
: code 314422
Ameloblastoma
: code 314419
Amelocerebrohypohidroticsyndrome
: code 1946
Amelogenesis imperfecta
: code 88661
Amelogenesis imperfecta type 1
: code 100031
Amelogenesis imperfecta type 2
: code 100033
Amelogenesis imperfecta type 3
: code 100032
Amelogenesis imperfecta type 4
: code 100034
Amelogenesis imperfecta-gingivalhyperplasia syndrome
: code 171836
Amelogenesis imperfecta-
: code 1031
Ameloonychohypohidroticsyndrome
: code 1028
American mountain fever
: code 83595
American trypanosomiasis
: code 3386
Aminoaciduria Hartnup type
: code 2116
Aminoacylase 2 deficiency
: code 141
Aminopterin embryopathysyndrome
: code 1908
Aminopterin syndrome-like sineaminopterin
: code 221120
Aminopterin/methotrexateembryofetopathy
: code 1908
Amish brittle hair syndrome
: code 33364
Amish infantile epilepsy syndrome
: code 171714
Amish lethal microcephaly
: code 99742
Amish nemaline myopathy
: code 98902
AMKL
: code 518
AML and myelodysplastic syndromes related to alkylatingagent
: code 102379
AML and myelodysplasticsyndromes related to radiation
: code 164726
AML and myelodysplastic syndromes related totopoisomerase type 2 inhibitor
: code 102381
AML M0
: code 98832
AML M1
: code 98833
AML M2
: code 98834
AML M3
: code 520
AML M4
: code 517
AML M5
: code 514
AML M6
: code 318
AML M7
: code 518
AML with 11q23 abnormalities
: code 98831
AML with abnormal bone marrow eosinophils inv(16)(p13q22) ort(16;16)(p13;q22)
: code 98829
AML with CEBPA somatic mutations
: code 319480
AML with inv3(q21;q26.2) ort(3;3)(q21;q26.2)
: code 402020
AML with multilineage dysplasia
: code 86845
AML with myelodysplasia-relatedfeatures
: code 86845
AML with NPM1 somatic mutations
: code 402026
AML with t(6;9)(p23;q34)
: code 402014
AML with t(8;16)(p11;p13)translocation
: code 370026
AML with t(8;21)(q22;q22)translocation
: code 102724
AML with t(9;11)(p22;q23)
: code 402017
AML with t(15;17)(q22;q12);(PML/RARalpha)and variants
: code 520
AMME complex
: code 86818
AMME syndrome
: code 86818
AMMoL
: code 517
AMNR
: code 488239
aMOA
: code 251663
Amoebiasis due to Entamoebahistolytica
: code 67
Amoebiasis due to free-livingamoebae
: code 68
AMP deaminase deficiency
: code 45
Ampola syndrome
: code 1035
Ampulla cardiomyopathy
: code 66529
Ampullary carcinoma
: code 300557
Ampulloma
: code 300557
AMRF
: code 163696
AMSAN
: code 98917
Amylo-1 6-glucosidase deficiency
: code 366
Amyloid lichen
: code 49804
Amyloidosis cutis dyschromia
: code 319635
Amyloidosis cutis dyschromica
: code 319635
Amyloidosis Ostertag type
: code 85450
Amylopectinosis
: code 367
Amyoplasia congenita
: code 488586
Amyotrophic lateral sclerosis
: code 803
Amyotrophic lateral sclerosis type 4
: code 357043
Amyotrophic lateral sclerosis hemiplegic type
: code 94091
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
: code 90020
Amyotrophic lateral sclerosis- parkinsonism-dementia of Guamsyndrome
: code 90020
Amyotrophy-fat tissue anomalysyndrome
: code 2615
Anal fistula
: code 228113
Analphalipoproteinemia
: code 31150
Anaphylactoid purpura
: code 761
Anaplastic astrocytoma
: code 251589
Anaplastic ependymoma
: code 251646
Anaplastic ganglioglioma
: code 251957
Anaplastic large cell lymphoma
: code 98841
Anaplastic oligoastrocytoma
: code 251663
Anaplastic oligodendroglioma
: code 251630
Anaplastic thyroid carcinoma
: code 142
Anaplastic/large cellmedulloblastoma
: code 251855
Anauxetic dysplasia
: code 93347
ANCL
: code 79262
Ancylostomiasis
: code 78
Andermann syndrome
: code 1496
Andersen cardiodysrhythmicperiodic paralysis
: code 37553
Andersen disease
: code 367
Andersen syndrome
: code 37553
Andersen-Tawil syndrome
: code 37553
Anderson disease
: code 71
Anderson-Fabry disease
: code 324
Androblastoma
: code 99916
Androgenetic/biparental mosaicism
: code 329813
ANE syndrome
: code 157954
ANEC
: code 263524
Aneurysm of sinus of Valsalva
: code 1054
Aneurysm or dilatation ofascending aorta
: code 95484
Aneurysm-osteoarthritis syndrome
: code 284984
Aneurysmal bone cyst
: code 480553
Aneurysmal telangiectasia
: code 353344
Angel-shaped phalango-epiphysealdysplasia
: code 63442
Angelman syndrome
: code 72
Angelman syndrome due to a pointmutation
: code 411511
Angelman syndrome due toimprinting defect in 15q11-q13
: code 411515
Angelman syndrome due tomaternal 15q11q13 deletion
: code 98794
Angelman syndrome due tomaternal monosomy 15q11q13
: code 98794
Angelman syndrome due to paternal uniparental disomy ofchromosome 15
: code 98795
Angiocentric cutaneous T-celllymphoma of childhood
: code 364039
Angiocentric glioma
: code 251671
Angiocentric T-cell lymphoma
: code 86879
Angiodysgenetic necrotizingmyelopathy
: code 79093
Angioendotheliomatosis proliferanssystemisata
: code 98839
Angiofollicular ganglionichyperplasia
: code 160
Angiofollicular lymph hyperplasia
: code 160
Angioimmunoblastic T-celllymphoma
: code 86886
Angiokeratoma corporis diffusum
: code 324
Angioma serpiginosum
: code 95429
Angioosteohypertrophic syndrome
: code 2346
Angioosteohypotrophic syndrome
: code 75508
Angiosarcoma
: code 263413
Angiostrongyliasis
: code 74
Angiotropic large cell lymphoma
: code 98839
Angora hair nevus
: code 370039
Anguilluliasis
: code 76
Anguillulosis
: code 76
Anhidrotic ectodermal dysplasia
: code 238468
Anhidrotic ectodermal dysplasiawith immunodeficiency
: code 98813
Anhidrotic ectodermal dysplasia- immunodeficiency-osteopetrosis-lymphedema syndrome
: code 69088
Anhidrotic ectodermic dysplasia-cleft lip/palate syndrome
: code 1071
Aniridia-absent patella syndrome
: code 1069
Aniridia-cerebellar ataxia-intellectual disability syndrome
: code 1065
Aniridia-intellectual disabilitysyndrome
: code 1068
Aniridia-ptosis-intellectualdisability-familial obesity syndrome
: code 1067
Aniridia-renal agenesis-psychomotor retardation syndrome
: code 1064
Anisakiasis
: code 1070
ANKCL
: code 86873
Ankyloblepharon filiformeadnatum-cleft palate syndrome
: code 1072
Ankyloblepharon filiformeadnatum-imperforate anus syndrome
: code 1074
Ankyloblepharon-ectodermaldefects-cleft lip/palate syndrome
: code 1071
Ankylosing vertebral hyperostosiswith tylosis
: code 2206
Ankylosis of teeth
: code 1077
Ankylostomiasis
: code 78
Annular atrophic lichen planus
: code 254411
Annular atrophic LP
: code 254411
Annular epidermolytic ichthyosis
: code 281139
Annular lichen planus
: code 254424
Annular LP
: code 254424
Annular pancreas
: code 675
Annuloaortic ectasia
: code 229
ANOAC
: code 457205
Anodontia
: code 99797
Anomaly of the mitral subvalvularapparatus
: code 101932
Anomaly of the tricuspid valvechordae
: code 99055
Anonychia congenita totalis
: code 94150
Anonychia with flexuralpigmentation
: code 69125
Anonychia-microcephaly syndrome
: code 1094
Anonychia-onychodystrophysyndrome
: code 90390
Anonychia-onychodystrophy with hypoplasia or absence of distalphalanges syndrome
: code 1487
Anophthalmia plus syndrome
: code 1104
Anophthalmia-heart and pulmonary anomalies-intellectualdisability syndrome
: code 2470
Anophthalmia-hypothalamo-pituitary insufficiency syndrome
: code 3157
Anophthalmia-megalocornea- cardiopathy-skeletal anomaliessyndrome
: code 1101
Anophthalmia-pulmonaryhypoplasia syndrome
: code 2470
Anophthalmia-syndactylysyndrome
: code 1106
Anophthalmia/microphthalmia-esophageal atresia syndrome
: code 77298
ANOTHER syndrome
: code 1882
Anotia
: code 93976
Antecubital pterygium syndrome
: code 2987
Antenatal Bartter syndrome
: code 93604
Antenatal CMV infection
: code 294
Antenatal cytomegalovirusinfection
: code 294
Antenatal EBV infection
: code 70596
Antenatal enterovirus infection
: code 292
Antenatal Epstein-Barr virusinfection
: code 70596
Antenatal herpes simplex virusinfection
: code 293
Antenatal multiminicore disease with arthrogryposis multiplexcongenita
: code 178148
Antenatal varicella virus infection
: code 291
Anterior basement membranedystrophy
: code 98956
Anterior bowing of legs withdwarfism
: code 3344
Anterior cutaneous nerveentrapment syndrome
: code 51890
Anterior encephalocele
: code 1931
Anterior limiting membranedystrophy type 1
: code 98961
Anterior limiting membranedystrophy type 2
: code 98960
Anterior limiting membranedystrophy type I
: code 98961
Anterior limiting membranedystrophy type II
: code 98960
Anterior pituitary hypophysitis
: code 95512
Anterior urethral valve
: code 435372
Anthracycline extravasation
: code 90079
Anti-C1q vasculitis
: code 36412
Anti-GBM syndrome
: code 375
Anti-glomerular basementmembrane disease
: code 375
Anti-HLA hyperimmunization
: code 2194
Anti-HMG-CoA myopathy
: code 206569
Anti-IgLON5 disease
: code 420789
Anti-IgLON5 syndrome
: code 420789
Anti-Jo1 syndrome
: code 81
Anti-K HDN
: code 275944
Anti-MAG neuropathy
: code 639
Anti-p200 pemphigoid
: code 454710
Anti-SRP myopathy
: code 206569
Antineutrophil cytoplasmic
: code 97564
Antinolo-Nieto-Borrego syndrome
: code 2821
Antiquitin deficiency
: code 3006
Antisynthetase syndrome
: code 81
Antley-Bixler syndrome
: code 83
Antley-Bixler syndrome type 2
: code 95699
Antley-Bixler syndrome with genital anomaly and disorder ofsteroidogenesis
: code 95699
Antley-Bixler syndrome POR-related
: code 95699
AO1
: code 1190
AO2
: code 56304
AO3
: code 56305
AOA1
: code 1168
AOA2
: code 64753
AOA4
: code 459033
AOFMD
: code 99000
AOI
: code 1190
AOII
: code 56304
AOIII
: code 56305
Aorta coarctation
: code 1457
Aortic aneurysm syndrome due toTGF-beta receptors anomalies
: code 60030
Aortic arch anomaly-facial dysmorphism-intellectual disabilitysyndrome
: code 1110
Aortic arch interruption
: code 2299
Aortic dilatation-joint hypermobility-arterial tortuositysyndrome
: code 91387
Aortic valve atresia
: code 95448
Aortic valve dysplasia
: code 101043
Aorto-left ventricular tunnel
: code 99071
Aorto-right ventricular tunnel
: code 99070
Aorto-ventricular tunnel
: code 3400
Aortopulmonary coronary arterialcourse
: code 99086
AOS
: code 974
AOSD
: code 829
AP4 deficiency syndrome
: code 280763
APA with seizures and neurologicalabnormalities
: code 369929
aPAP
: code 747
APBD
: code 206583
APC-related AFAP
: code 247806
APC-related attenuated familialadenomatous polyposis
: code 247806
APC-related attenuated familialpolyposis coli
: code 247806
APC-related attenuated FAP
: code 247806
APDS
: code 397596
APECED syndrome
: code 3453
Apert syndrome
: code 87
Apertura pyriformis withholoprosencephaly
: code 162521
Aphalangy-hemivertebrae- urogenital-intestinal dysgenesissyndrome
: code 1112
Aphalangy-syndactyly-microcephalysyndrome
: code 1113
Aphallia
: code 49
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectualdisability syndrome
: code 324540
Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome
: code 324540
Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
: code 324540
Apical ballooning syndrome
: code 66529
APLAID
: code 324530
Aplasia cutis congenita
: code 1114
Aplasia cutis congenita-epibulbardermoids syndrome
: code 3339
Aplasia cutis congenita-intestinallymphangiectasia syndrome
: code 1116
Aplasia cutis congenita-nevussebaceus syndrome
: code 370046
Aplasia cutis-myopia syndrome
: code 1117
Aplasia of lacrimal and salivaryglands
: code 86815
Aplasia of tibia with split-hand/split-foot deformity
: code 3329
Aplasia/hypoplasia of limbs andpelvis
: code 2879
APML
: code 520
Apnea of infancy
: code 70590
Apnea of prematurity
: code 99981
ApoA-I deficiency
: code 425
Apodia
: code 294986
Apolipoprotein A-I amyloidosis
: code 93560
Apolipoprotein A-I deficiency
: code 425
Apolipoprotein A-II amyloidosis
: code 238269
Apolipoprotein A-IV amyloidosis
: code 439232
Apparent mineralocorticoid excess
: code 320
Appendiceal mucinousadenocarcinoma
: code 391723
Appendiceal NEN
: code 100079
Appendiceal neuroendocrineneoplasm
: code 100079
Apple peel syndrome
: code 1201
Apple-peel intestinal atresia-ocularanomalies-microcephaly syndrome
: code 506307
Aprosencephaly cerebellardysgenesis
: code 1126
APRT deficiency
: code 976
APS1
: code 3453
APS2
: code 3143
APS3
: code 227982
APS4
: code 227990
APS type 1
: code 3453
APS type 2
: code 3143
APS type 3
: code 227982
APS type 4
: code 227990
APV/ADA Fallot type
: code 101206
APV/PDA non-Fallot type
: code 99048
Aquagenic keratoderma
: code 498359
Aquagenic palmoplantarkeratoderma
: code 498359
Aquagenic syringealacrokeratoderma
: code 498359
Aquagenic wrinkling of the palms
: code 498359
AR dRTA
: code 402041
AR dRTA with deafness
: code 402041
AR dRTA with hearing loss
: code 402041
AR dRTA without deafness
: code 402041
AR dRTA without hearing loss
: code 402041
AR pRTA
: code 93607
AR-CMT2 with acrodystrophy
: code 90119
AR-CMT2 Ouvrier type
: code 90118
AR-CMT2B1
: code 98856
AR-CMT2B2
: code 101101
AR-CMT2B5
: code 228374
AR-CMT2C
: code 101102
AR-CMT2T
: code 495274
AR-CNM
: code 169186
AR-HED
: code 248
AR-NSID
: code 88616
AR-PKD
: code 731
AR-SPG9B
: code 447760
Arachnodactyly-abnormal ossification-intellectual disabilitysyndrome
: code 1129
Arachnodactyly-intellectualdisability-dysmorphism syndrome
: code 1130
Arachnoid cyst
: code 2356
Arachnoiditis
: code 137817
ARAN-NM
: code 324442
ARBD
: code 1915
ARC syndrome
: code 2697
ARCA1
: code 88644
ARCA2
: code 139485
ARCL1
: code 90349
ARCL1C
: code 221145
ARCL2 classic type
: code 357074
ARCL2 Debr type
: code 357074
ARCL2 progeroid type
: code 357064
ARCL2A
: code 357058
ARCL2B
: code 357064
ARCMT2-NM
: code 324442
ARCMT2K
: code 101097
ARCMT2X
: code 466775
AREDYLD syndrome
: code 1133
Aregenerative anemia
: code 101096
Arena syndrome
: code 702
Areolar atrophy of the macula
: code 75377
Argentine hemorrhagic fever
: code 319223
Argentinian hemorrhagic fever
: code 319223
Arginase deficiency
: code 90
Argininemia
: code 90
Argininosuccinase deficiency
: code 23
Argininosuccinate synthasedeficiency
: code 247525
Argininosuccinate synthetasedeficiency
: code 247525
Argininosuccinatelyase deficiency
: code 23
Argininosuccinic acid lyasedeficiency
: code 23
Argininosuccinic acid synthasedeficiency
: code 247525
Argininosuccinic acid synthetasedeficiency
: code 247525
Argininosuccinic aciduria
: code 23
Argyria
: code 60014
ARHR
: code 289176
Arias syndrome
: code 79235
Arima syndrome
: code 2318
Arkless-Graham syndrome
: code 950
Armfield syndrome
: code 85276
ARND
: code 1915
Arndt-Gottron disease
: code 167635
Arnold-Chiari malformation type 1
: code 268882
Arnold-Chiari malformation type 2
: code 1136
Arnold-Chiari malformation type I
: code 268882
Arnold-Chiari malformation type II
: code 1136
Aromatase deficiency
: code 91
Aromatase excess syndrome
: code 178345
Aromatic L-amino aciddecarboxylase deficiency
: code 35708
arPEO
: code 254886
Arrhenoblastoma
: code 99916
Arrhinia-choanal atresia-microphthalmia syndrome
: code 1135
ARSA
: code 260305
ARSACS
: code 98
ARSAL
: code 314603
ARSB deficiency
: code 583
Arterial cervical rib syndrome
: code 357107
Arterial costoclavicular syndrome
: code 357107
Arterial dissection-lentiginosissyndrome
: code 1682
Arterial hyperabduction syndrome
: code 357107
Arterial scalenus anticus syndrome
: code 357107
Arterial thoracic outlet compressionsyndrome
: code 357107
Arterial thoracic outlet syndrome
: code 357107
Arterial tortuosity syndrome
: code 3342
Arterial TOS
: code 357107
Arteriohepatic dysplasia
: code 52
Arteriohepatic dysplasia due to aJAG1 point mutation
: code 261619
Arteriohepatic dysplasia due to aNOTCH2 point mutation
: code 261629
Arteriohepatic dysplasia due tomonosomy 20p12
: code 261600
Arteriovenous malformation ofmandible
: code 141174
Arteriovenous malformation ofmaxilla
: code 141171
Arthritis urethritica
: code 29207
Arthrodentoosteodysplasia
: code 955
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
: code 994
Arthrogryposis multiplex congenita-whistling face syndrome
: code 1150
Arthrogryposis-ectodermal dysplasia-other anomaliessyndrome
: code 3200
Arthrogryposis-hyperkeratosissyndrome lethal form
: code 1485
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
: code 1144
Arthrogryposis-like syndrome
: code 1149
Arthrogryposis-oculomotor limitation-electroretinal anomaliessyndrome
: code 1154
Arthrogryposis-renal dysfunction-cholestasis syndrome
: code 2697
Arthrogryposis-severe scoliosissyndrome
: code 65720
Arthropathy-camptodactylysyndrome
: code 2848
Arts syndrome
: code 1187
Arylsulfatase A deficiency
: code 512
Arylsulfatase A deficiency adultform
: code 309271
Arylsulfatase A deficiency juvenileform
: code 309263
Arylsulfatase A deficiency lateinfantile form
: code 309256
Arylsulfatase B deficiency
: code 583
Arylsulfatase B deficiency rapidlyprogressing
: code 276212
Arylsulfatase B deficiency slowlyprogressing
: code 276223
AS syndrome
: code 81
ASA deficiency
: code 23
ASAN
: code 231466
ASB deficiency
: code 583
Asbestos intoxication
: code 2302
Asbestosis
: code 2302
Ascher syndrome
: code 1253
ASCT1 deficiency
: code 447997
ASD
: code 1478
ASD due to AUTS2 deficiency
: code 352490
ASD coronary sinus type
: code 99104
ASD ostium primum type
: code 99106
ASD ostium secundum type
: code 99103
ASD sinus venosus type
: code 99105
Aseptic abscesses syndrome
: code 54251
Aseptic necrosis of patella
: code 97337
Aseptic necrosis of phalangealepiphyses
: code 3314
Aseptic necrosis of the capitalfemoral epiphysis
: code 2380
Aseptic necrosis of the capitalhumerus
: code 97336
Aseptic necrosis of the lunate bone
: code 97332
Aseptic necrosis of the tarsal bone
: code 2054
Aseptic necrosis of the tibialtubercle
: code 97335
Aseptic osteitis
: code 57194
Aseptic systemic abscesses
: code 54251
Asherman syndrome
: code 137686
Asidan
: code 276198
ASL deficiency
: code 23
Asparagine synthetase deficiency
: code 391376
Aspartoacylase deficiency
: code 141
Aspartylglucosaminidase deficiency
: code 93
Aspartylglucosaminuria
: code 93
ASPED
: code 63442
Aspergillosis
: code 1163
Asphyxiating thoracic dystrophy ofthe newborn
: code 474
ASPS
: code 163699
ASS deficiency
: code 247525
ASSA
: code 221120
Astley-Kendall dysplasia
: code 85175
Astroblastoma
: code 251679
AT V1
: code 647
Ataxia with isolated vitamin Edeficiency
: code 96
Ataxia with lactic acidosis type 2
: code 3008
Ataxia with lactic acidosis type II
: code 3008
Ataxia with pigmentary retinopathy
: code 94147
Ataxia with vitamin E deficiency
: code 96
Ataxia-deafness-intellectualdisability syndrome
: code 1188
Ataxia-delayed dentition-hypomyelination syndrome
: code 137639
Ataxia-diabetes-goiter-gonadalinsufficiency syndrome
: code 1227
Ataxia-hearing loss-intellectualdisability syndrome
: code 1188
Ataxia-hypogonadism-choroidaldystrophy syndrome
: code 1180
Ataxia-intellectual disability- oculomotor apraxia-cerebellar cystssyndrome
: code 370022
Ataxia-oculomotor apraxia type 1
: code 1168
Ataxia-oculomotor apraxia type 2
: code 64753
Ataxia-oculomotor apraxia type 4
: code 459033
Ataxia-pancytopenia syndrome
: code 2585
Ataxia-photosensitivity-shortstature syndrome
: code 1184
Ataxia-tapetoretinal degenerationsyndrome
: code 1178
Ataxia-telangiectasia
: code 100
Ataxia-telangiectasia variant
: code 370109
Ataxia-telangiectasia variant 1
: code 647
Ataxia-telangiectasia-like disorder
: code 251347
Ataxie spinocrbelleuse dbutinfantile avec retard psychomoteur
: code 352403
Ataxo-opso-myoclonus syndrome
: code 1183
Atelosteogenesis type 1
: code 1190
Atelosteogenesis type 2
: code 56304
Atelosteogenesis type 3
: code 56305
Atelosteogenesis type I
: code 1190
Atelosteogenesis type II
: code 56304
Atelosteogenesis type III
: code 56305
Athabascan brainstem dysgenesissyndrome
: code 69739
Athabaskan brainstem dysgenesissyndrome
: code 69739
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
: code 1192
Athyreosis
: code 95713
Athyroidal hypothyroidism-spikyhair-cleft palate syndrome
: code 1226
ATIC deficiency
: code 250977
Atkin-Flaitz syndrome
: code 1193
Atlantoaxial subluxation
: code 99666
ATLD
: code 251347
ATLL
: code 86875
ATM/TM
: code 139423
ATMDS
: code 231401
Atopic keratoconjunctivitis
: code 163934
ATOS
: code 357107
ATP7A-related distal motorneuropathy
: code 139557
ATP-binding cassette transporterA1 deficiency
: code 31150
ATR syndrome linked tochromosome 16
: code 98791
ATR syndrome deletion type
: code 98791
ATR-16 syndrome
: code 98791
ATR-X syndrome
: code 847
Atresia of small intestine
: code 1201
Atresia of urethra
: code 105
Atrial cardiomyopathy with heartblock
: code 1344
Atrial septal aneurysm
: code 99107
Atrial septal defect
: code 1478
Atrial septal defect coronary sinustype
: code 99104
Atrial septal defect ostium primumtype
: code 99106
Atrial septal defect ostiumsecundum type
: code 99103
Atrial septal defect sinus venosustype
: code 99105
Atrial septal defect-atrioventricularconduction defects syndrome
: code 1479
Atrial standstill
: code 1344
Atrial tachyarrhythmia with shortPR interval
: code 844
Atrichia with papular lesions
: code 86819
Atriodigital dysplasia type 1
: code 392
Atriodigital dysplasia type 2
: code 1350
Atriodigital dysplasia type 3
: code 1342
Atriodigital dysplasia Sloveniantype
: code 168796
Atrioventricular defect- blepharophimosis-radial and analdefect syndrome
: code 1352
Atrophia areata
: code 86813
Atrophia bulborum hereditaria
: code 649
Atrophic lichen planus
: code 254449
Atrophic LP
: code 254449
Atrophoderma vermiculata
: code 79100
ATRT
: code 99966
ATRUS syndrome
: code 71289
ATS
: code 3342
ATS-MR
: code 86818
Attenuated Chdiak-Higashisyndrome
: code 352723
Attenuated familial adenomatouspolyposis
: code 220460
Attenuated familial polyposis coli
: code 220460
Attenuated FAP
: code 220460
ATTR cardiomyopathy
: code 85451
ATTRV122I amyloidosis
: code 85451
ATTRV122I-related amyloidosis
: code 85451
ATTRV30M amyloidosis
: code 85447
ATTRV30M-related amyloidosis
: code 85447
ATTRwt amyloidosis
: code 330001
ATTRwt-related amyloidosis
: code 330001
Atypical autism
: code 199627
Atypical Chdiak-Higashi syndrome
: code 352723
Atypical choroid plexus papilloma
: code 251902
Atypical chronic myeloid leukemia
: code 98824
Atypical coarctation of aorta
: code 1456
Atypical CPP
: code 251902
Atypical Demons-Meigs syndrome
: code 314466
Atypical dentin dysplasia due toSMOC2 deficiency
: code 314721
Atypical facial pain
: code 398147
Atypical Gaucher disease due tosaposin C deficiency
: code 309252
Atypical glycine encephalopathy
: code 289863
Atypical granular corneal dystrophy
: code 98961
Atypical HCS
: code 238523
Atypical hemolytic-uremicsyndrome
: code 2134
Atypical hemolytic-uremic syndrome with anti-factor Hantibodies
: code 93581
Atypical hemolytic-uremicsyndrome with B factor anomaly
: code 93578
Atypical hemolytic-uremicsyndrome with C3 anomaly
: code 93575
Atypical hemolytic-uremicsyndrome with DGKE deficiency
: code 357008
Atypical hemolytic-uremicsyndrome with H factor anomaly
: code 93579
Atypical hemolytic-uremicsyndrome with I factor anomaly
: code 93580
Atypical hemolytic-uremicsyndrome with MCP/CD46 anomaly
: code 93576
Atypical hemolytic-uremic syndrome with thrombomodulinanomaly
: code 217023
Atypical HUS
: code 2134
Atypical HUS with anti-factor Hantibodies
: code 93581
Atypical HUS with B factor anomaly
: code 93578
Atypical HUS with C3 anomaly
: code 93575
Atypical HUS with DGKE deficiency
: code 357008
Atypical HUS with H factor anomaly
: code 93579
Atypical HUS with I factor anomaly
: code 93580
Atypical HUS with MCP/CD46anomaly
: code 93576
Atypical HUS with thrombomodulinanomaly
: code 217023
Atypical hypotonia-cystinuriasyndrome
: code 238523
Atypical juvenile parkinsonism
: code 391411
Atypical lichen myxedematosus
: code 86797
Atypical lipoma
: code 99971
Atypical lipomatous tumor
: code 99971
Atypical Meigs syndrome
: code 314466
Atypical MRKH syndrome
: code 2578
Atypical NKA
: code 289863
Atypical non-ketotichyperglycinemia
: code 289863
Atypical Norrie disease due todel(X)(p11.3)
: code 261501
Atypical Norrie disease due tomonosomy Xp11.3
: code 261501
Atypical Norrie disease due toXp11.3 microdeletion
: code 261501
Atypical pantothenate kinase-associated neurodegeneration
: code 216873
Atypical papilloma of choroidplexus
: code 251902
Atypical progeroid syndrome
: code 79474
Atypical progressive supranuclearpalsy syndrome
: code 99750
Atypical PSP syndrome
: code 99750
Atypical Rett syndrome
: code 3095
Atypical RTT
: code 3095
Atypical teratoid rhabdoid tumor
: code 99966
Atypical tuberous myxedema ofJadassohn-Dosseker
: code 90393
Atypical Werner syndrome
: code 79474
Atypical X-linked achromatopsia
: code 16
Au-Kline syndrome
: code 453504
Audiogenic seizures
: code 166415
Aughton-Hufnagle syndrome
: code 1074
Aural atresia-multiple congenital anomalies-intellectual disabilitysyndrome
: code 1488
Auralcephalosyndactyly
: code 794
Auricular abnormalities-cleft lip with or without cleft palate-ocularabnormalities syndrome
: code 77300
Auriculocondylar syndrome
: code 137888
Auriculoosteodysplasia
: code 114
Aurocephalosyndactyly
: code 794
Ausems-Wittebol Post-Hennekamsyndrome
: code 1995
Autism spectrum disorder due toAUTS2 deficiency
: code 352490
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
: code 370943
Autism-epilepsy syndrome due to branched chain ketoaciddehydrogenase kinase deficiency
: code 308410
Autism-facial port-wine stainsyndrome
: code 137911
Autoerythrocyte sensitizationsyndrome
: code 324636
Autoimmune Addison disease
: code 85138
Autoimmune adrenalitis
: code 85138
Autoimmune encephalopathy with parasomnia and obstructive sleepapnea
: code 420789
Autoimmune enteropathy and endocrinopathy-susceptibility tochronic infections syndrome
: code 391487
Autoimmune enteropathy type 1
: code 37042
Autoimmune enteropathy type 2
: code 103916
Autoimmune enteropathy type 3
: code 103917
Autoimmune hemolytic anemia and
: code 1959
Autoimmune hemolytic anemia warm type
: code 90033
Autoimmune hemolytic anemia- autoimmune thrombocytopenia- primary immunodeficiencysyndrome
: code 444463
Autoimmune hepatitis
: code 2137
Autoimmune hypoparathyroidism
: code 36913
Autoimmune hypoparathyroidism- chronic candidiasis-Addison diseasesyndrome
: code 3453
Autoimmune interstitial lungdisease-arthritis syndrome
: code 444092
Autoimmune lymphoproliferativesyndrome
: code 3261
Autoimmune lymphoproliferative syndrome due to CTLA4haploinsuffiency
: code 436159
Autoimmune lymphoproliferative syndrome with recurrent viralinfections
: code 275517
Autoimmune myasthenia gravis
: code 589
Autoimmune necrotizing myositis
: code 206569
Autoimmune pancreatitis
: code 103919
Autoimmune pancreatitis type 1
: code 280302
Autoimmune pancreatitis type 2
: code 280315
Autoimmune PAP
: code 747
Autoimmune polyendocrinesyndrome type 1
: code 3453
Autoimmune polyendocrinesyndrome type 2
: code 3143
Autoimmune polyendocrinesyndrome type 3
: code 227982
Autoimmune polyendocrinesyndrome type 4
: code 227990
Autoimmune polyendocrinopathytype 1
: code 3453
Autoimmune polyendocrinopathytype 2
: code 3143
Autoimmune polyendocrinopathytype 3
: code 227982
Autoimmune polyendocrinopathytype 4
: code 227990
Autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophysyndrome
: code 3453
Autoimmune polyglandularsyndrome type 1
: code 3453
Autoimmune polyglandularsyndrome type 2
: code 3143
Autoimmune polyglandularsyndrome type 3
: code 227982
Autoimmune polyglandularsyndrome type 4
: code 227990
Autoimmune pulmonary alveolar
: code 747
Autoimmune thromboticthrombocytopenic purpura
: code 93585
Autoimmune thyroid disease and/or type 1 diabetes-Addisondisease syndrome
: code 3143
Autoinflammation-lipodystrophy-dermatosis syndrome
: code 324977
Autoinflammation-PLCG2- associated antibody deficiency-immune dysregulation
: code 324530
Autoinflammatory disease due to interleukin-1 receptor antagonistdeficiency
: code 210115
Autoinflammatory syndrome with pyogenic bacterial infection andamylopectinosis
: code 329173
Autosomal agammaglobulinemia
: code 33110
Autosomal dominant adult-onsetproximal SMA
: code 209335
Autosomal dominant adult-onsetproximal spinal muscular atrophy
: code 209335
Autosomal dominant Alportsyndrome
: code 88918
Autosomal dominant anhidroticectodermal dysplasia
: code 1810
Autosomal dominant aplasia andmyelodysplasia
: code 314399
Autosomal dominant aplasticanemia and myelodysplasia
: code 314399
Autosomal dominant benign distalspinal muscular atrophy
: code 1216
Autosomal dominant beta2-microglobulinic amyloidosis
: code 314652
Autosomal dominant brachyolmia
: code 93304
Autosomal dominant centronuclearmyopathy
: code 169189
Autosomal dominant cerebellar ataxia-deafness-narcolepsysyndrome
: code 314404
Autosomal dominant Charcot- Marie-Tooth disease type 2 due toDGAT2 mutation
: code 487814
Autosomal dominant Charcot- Marie-Tooth disease type 2 due toHARS mutation
: code 488333
Autosomal dominant Charcot- Marie-Tooth disease type 2 due toKIF5A mutation
: code 324611
Autosomal dominant Charcot- Marie-Tooth disease type 2 due toMARS mutation
: code 397735
Autosomal dominant Charcot- Marie-Tooth disease type 2 due toMORC2 mutation
: code 466768
Autosomal dominant Charcot-
: code 447964
Autosomal dominant Charcot- Marie-Tooth disease type 2 due toTFG mutation
: code 435819
Autosomal dominant Charcot- Marie-Tooth disease type 2 due toVCP mutation
: code 435387
Autosomal dominant Charcot- Marie-Tooth disease type 2 withgiant axons
: code 401964
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
: code 99946
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
: code 99947
Autosomal dominant Charcot-Marie-Tooth disease type 2B
: code 99936
Autosomal dominant Charcot-Marie-Tooth disease type 2C
: code 99937
Autosomal dominant Charcot-Marie-Tooth disease type 2D
: code 99938
Autosomal dominant Charcot-Marie-Tooth disease type 2E
: code 99939
Autosomal dominant Charcot-Marie-Tooth disease type 2F
: code 99940
Autosomal dominant Charcot-Marie-Tooth disease type 2G
: code 99941
Autosomal dominant Charcot-Marie-Tooth disease type 2I
: code 99942
Autosomal dominant Charcot-Marie-Tooth disease type 2J
: code 99943
Autosomal dominant Charcot-Marie-Tooth disease type 2K
: code 99944
Autosomal dominant Charcot-Marie-Tooth disease type 2L
: code 99945
Autosomal dominant Charcot-Marie-Tooth disease type 2M
: code 228179
Autosomal dominant Charcot-Marie-Tooth disease type 2N
: code 228174
Autosomal dominant Charcot-Marie-Tooth disease type 2O
: code 284232
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
: code 329258
Autosomal dominant Charcot-Marie-Tooth disease type 2U
: code 397735
Autosomal dominant Charcot-Marie-Tooth disease type 2V
: code 447964
Autosomal dominant Charcot-Marie-Tooth disease type 2W
: code 488333
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
: code 435387
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
: code 466768
Autosomal dominant CHED
: code 98975
Autosomal dominant childhood-onset proximal spinal muscular
: code 363447
Autosomal dominant childhood- onset proximal spinal muscularatrophy with contractures
: code 363454
Autosomal dominant childhood- onset proximal spinal muscularatrophy without contractures
: code 209341
Autosomal dominantchondrodysplasia punctata
: code 79344
Autosomal dominant chorioretinopathy-microcephalysyndrome
: code 2526
Autosomal dominant coarctation ofaorta
: code 1455
Autosomal dominant complexspastic paraplegia type 9A
: code 447753
Autosomal dominant complexspastic paraplegia type 9B
: code 447757
Autosomal dominant congenitalbenign spinal muscular atrophy
: code 1216
Autosomal dominant congenitalhereditary endothelial dystrophy
: code 98975
Autosomal dominant corticalmyoclonus and epilepsy
: code 86814
Autosomal dominant cutis laxa
: code 90348
Autosomal dominant cystoidmacular edema
: code 75381
Autosomal dominant deafness-onychodystrophy syndrome
: code 79499
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
: code 2337
Autosomal dominant distal axonal motor neuropathy-myofibrillarmyopathy syndrome
: code 476093
Autosomal dominant distal juvenilespinal muscular atrophy type 1
: code 139518
Autosomal dominant distal renaltubular acidosis
: code 93608
Autosomal dominant dopa-responsive dystonia
: code 98808
Autosomal dominant dystrophicepidermolysis bullosa Cockayne- Touraine type
: code 231568
Autosomal dominant dystrophic epidermolysis bullosa Pasini andCockayne-Touraine types
: code 231568
Autosomal dominant dystrophicepidermolysis bullosa Pasini type
: code 231568
Autosomal dominant ectodermal dysplasia-cancer predispositionsyndrome
: code 300576
Autosomal dominant Emery-Dreifuss muscular dystrophy
: code 98853
Autosomal dominant epilepsy withauditory features
: code 101046
Autosomal dominant familial hematuria-retinal arteriolartortuosity-contractures syndrome
: code 73229
Autosomal dominant focaldystonia DYT25 type
: code 329466
Autosomal dominant focal non- epidermolytic palmoplantarkeratoderma with plantar blistering
: code 402003
Autosomal dominant gingivalfibromatosis
: code 2024
Autosomal dominant gingivalhyperplasia
: code 2024
Autosomal dominant hereditaryhemochromatosis
: code 139491
Autosomal dominant hereditary motor and sensory neuropathy type2 with giant axons
: code 401964
Autosomal dominant HIES
: code 2314
Autosomal dominant hyper-IgEsyndrome
: code 2314
Autosomal dominanthyperimmunoglobulin E syndrome
: code 2314
Autosomal dominant hyperinsulinemic hypoglycemia dueto Kir6.2 deficiency
: code 276580
Autosomal dominant hyperinsulinemic hypoglycemia dueto SUR1 deficiency
: code 276575
Autosomal dominant hyperinsulinism due to Kir6.2deficiency
: code 276580
Autosomal dominant hyperinsulinism due to SUR1deficiency
: code 276575
Autosomal dominant hypocalcemia
: code 428
Autosomal dominant hypohidroticectodermal dysplasia
: code 1810
Autosomal dominanthypophosphatemia
: code 89937
Autosomal dominanthypophosphatemic rickets
: code 89937
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
: code 457193
Autosomal dominant intermediateCharcot-Marie-Tooth disease type A
: code 100043
Autosomal dominant intermediateCharcot-Marie-Tooth disease type B
: code 100044
Autosomal dominant intermediateCharcot-Marie-Tooth disease type C
: code 100045
Autosomal dominant intermediateCharcot-Marie-Tooth disease type D
: code 100046
Autosomal dominant intermediateCharcot-Marie-Tooth disease type E
: code 93114
Autosomal dominant intermediateCharcot-Marie-Tooth disease type F
: code 352670
Autosomal dominant intermediate Charcot-Marie-Tooth disease withneuropathic pain
: code 324585
Autosomal dominant isolatedneurosensory deafness type DFNA
: code 90635
Autosomal dominant isolated neurosensory hearing loss typeDFNA
: code 90635
Autosomal dominant isolatedsensorineural deafness type DFNA
: code 90635
Autosomal dominant isolated sensorineural hearing loss typeDFNA
: code 90635
Autosomal dominant Kenny-Caffeysyndrome
: code 93325
Autosomal dominant keratitis
: code 2334
Autosomal dominant keratoconus with early-onset anterior polarcataracts
: code 293936
Autosomal dominant Larsensyndrome
: code 503
Autosomal dominant late-onsetParkinson disease
: code 411602
Autosomal dominant late-onsetretinal degeneration
: code 67042
Autosomal dominant late-onsetspinal muscular atrophy Finkel type
: code 209335
Autosomal dominant lateraltemporal lobe epilepsy
: code 101046
Autosomal dominant leukoencephalopathy withneuroaxonal spheroids
: code 313808
Autosomal dominant limb-girdlemuscular dystrophy type 1A
: code 266
Autosomal dominant limb-girdlemuscular dystrophy type 1B
: code 264
Autosomal dominant limb-girdlemuscular dystrophy type 1C
: code 265
Autosomal dominant limb-girdlemuscular dystrophy type 1D
: code 34516
Autosomal dominant limb-girdlemuscular dystrophy type 1E
: code 34517
Autosomal dominant limb-girdlemuscular dystrophy type 1F
: code 55595
Autosomal dominant limb-girdlemuscular dystrophy type 1G
: code 55596
Autosomal dominant limb-girdlemuscular dystrophy type 1H
: code 238755
Autosomal dominantmacrothrombocytopenia
: code 140957
Autosomal dominant medullarycystic kidney disease
: code 34149
Autosomal dominant medullarycystic kidney disease type 2
: code 88950
Autosomal dominant mendeliansusceptibility to mycobacterial
: code 319581
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2deficiency
: code 319589
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferongamma receptor 1 deficiency
: code 319581
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferongamma receptor 2 deficiency
: code 319589
Autosomal dominant mitochondrialmyopathy with exercise intolerance
: code 457050
Autosomal dominant MSMD due topartial IFNgammaR1 deficiency
: code 319581
Autosomal dominant MSMD due topartial IFNgammaR2 deficiency
: code 319589
Autosomal dominant MSMD due to partial interferon gamma receptor 1deficiency
: code 319581
Autosomal dominant MSMD due to partial interferon gamma receptor 2deficiency
: code 319589
Autosomal dominant multiplepterygium syndrome
: code 65743
Autosomal dominantmyoglobinuria
: code 99846
Autosomal dominant myopia- midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasiasyndrome
: code 440354
Autosomal dominant neovascularinflammatory vitreoretinopathy
: code 329211
Autosomal dominant nocturnalfrontal lobe epilepsy
: code 98784
Autosomal dominant non-syndromic intellectual disability
: code 178469
Autosomal dominant non- syndromic neurosensory deafnesstype DFNA
: code 90635
Autosomal dominant non- syndromic neurosensory hearingloss type DFNA
: code 90635
Autosomal dominant non- syndromic sensorineural deafnesstype DFNA
: code 90635
Autosomal dominant non- syndromic sensorineural hearingloss type DFNA
: code 90635
Autosomal dominant omodysplasia
: code 93328
Autosomal dominant Opitz BBB/Gsyndrome
: code 306588
Autosomal dominant Opitz G/BBBsyndrome
: code 306588
Autosomal dominant Opitzsyndrome
: code 306588
Autosomal dominant optic atrophyand cataract
: code 67036
Autosomal dominant optic atrophyand congenital deafness
: code 1215
Autosomal dominant optic atrophyand peripheral neuropathy
: code 250932
Autosomal dominant optic atrophyplus syndrome
: code 1215
Autosomal dominant optic atrophytype 3
: code 67036
Autosomal dominant optic atrophy classic form
: code 98673
Autosomal dominant optic atrophy Kjer type
: code 98673
Autosomal dominant osteopetrosistype 1
: code 2783
Autosomal dominantosteosclerosis Stanescu type
: code 1798
Autosomal dominantosteosclerosis Worth type
: code 2790
Autosomal dominant palmoplantar hyperkeratosis and congenitalalopecia
: code 1010
Autosomal dominant palmoplantar keratoderma and congenitalalopecia
: code 1010
Autosomal dominant polycystickidney disease
: code 730
Autosomal dominant polycystic kidney disease type 1 with tuberoussclerosis
: code 88924
Autosomal dominant polycysticliver disease
: code 2924
Autosomal dominant poplitealpterygium syndrome
: code 1300
Autosomal dominant preaxial polydactyly-upperbackhypertrichosis syndrome
: code 476119
Autosomal dominant primary hypomagnesemia withhypocalciuria
: code 34528
Autosomal dominant primarymicrocephaly
: code 2514
Autosomal dominant prognathism
: code 2964
Autosomal dominant progressiveexternal ophthalmoplegia
: code 254892
Autosomal dominant progressivenephropathy with hypertension
: code 88659
Autosomal dominant proximalrenal tubular acidosis
: code 314889
Autosomal dominantpseudohypoaldosteronism type 1
: code 171871
Autosomal dominantrhegmatogenous retinal
: code 209867
Autosomal dominant Robinowsyndrome
: code 3107
Autosomal dominant secondaryerythrocytosis
: code 247511
Autosomal dominant secondarypolycythemia
: code 247511
Autosomal dominant Segawasyndrome
: code 98808
Autosomal dominant severecongenital neutropenia
: code 486
Autosomal dominant slowed nerveconduction velocity
: code 140481
Autosomal dominant spastic ataxiatype 1
: code 251282
Autosomal dominant spastic ataxiatype 7
: code 1182
Autosomal dominant spasticparaplegia type 3
: code 100984
Autosomal dominant spasticparaplegia type 4
: code 100985
Autosomal dominant spasticparaplegia type 6
: code 100988
Autosomal dominant spasticparaplegia type 8
: code 100989
Autosomal dominant spasticparaplegia type 9
: code 100990
Autosomal dominant spasticparaplegia type 10
: code 100991
Autosomal dominant spasticparaplegia type 12
: code 100993
Autosomal dominant spasticparaplegia type 13
: code 100994
Autosomal dominant spasticparaplegia type 17
: code 100998
Autosomal dominant spasticparaplegia type 19
: code 100999
Autosomal dominant spasticparaplegia type 29
: code 101009
Autosomal dominant spasticparaplegia type 31
: code 101011
Autosomal dominant spasticparaplegia type 36
: code 320365
Autosomal dominant spasticparaplegia type 37
: code 171612
Autosomal dominant spasticparaplegia type 38
: code 171617
Autosomal dominant spasticparaplegia type 41
: code 320355
Autosomal dominant spasticparaplegia type 42
: code 171863
Autosomal dominant spasticparaplegia type 73
: code 444099
Autosomal dominantspondylocostal dysostosis
: code 1797
Autosomal dominant
: code 1797
Autosomal dominant striatalneurodegeneration
: code 228169
Autosomal dominant thrombocytopenia with plateletsecretion defect
: code 466806
Autosomal dominanttrichoodontoonychodysplasia- syndactyly
: code 3357
Autosomal dominanttubulointerstitial kidney disease
: code 34149
Autosomal dominantvitreoretinochoroidopathy
: code 3086
Autosomal erythropoieticprotoporphyria
: code 79278
Autosomal recessive Alportsyndrome
: code 88919
Autosomal recessive amelia
: code 1027
Autosomal recessive anhidroticectodermal dysplasia
: code 248
Autosomal recessive aplasia cutis
: code 1116
Autosomal recessive ataxia due tocoenzyme Q10 deficiency
: code 139485
Autosomal recessive ataxia due toPEX10 deficiency
: code 247815
Autosomal recessive ataxia due toubiquinone deficiency
: code 139485
Autosomal recessive ataxia Beaucetype
: code 88644
Autosomal recessive axonal Charcot-Marie-Tooth disease type2B2
: code 101101
Autosomal recessive axonal Charcot-Marie-Tooth disease type2K
: code 101097
Autosomal recessive axonal Charcot-Marie-Tooth disease type2T
: code 495274
Autosomal recessive axonal Charcot-Marie-Tooth disease withacrodystrophy
: code 90119
Autosomal recessive axonalCMT4C1
: code 98856
Autosomal recessive axonalCMT4C2
: code 101102
Autosomal recessive axonalCMT4C3
: code 101101
Autosomal recessive axonalCMT4C4
: code 101097
Autosomal recessive axonalneuropathy with neuromyotonia
: code 324442
Autosomal recessivebestrophinopathy
: code 139455
Autosomal recessive brachyolmia
: code 448242
Autosomal recessive carpotarsalosteolysis
: code 3460
Autosomal recessive centronuclearmyopathy
: code 169186
Autosomal recessive cerebellarataxia due to CWF19L1 deficiency
: code 453521
Autosomal recessive cerebellarataxia due to GBA2 deficiency
: code 352641
Autosomal recessive cerebellarataxia due to STUB1 deficiency
: code 412057
Autosomal recessive cerebellarataxia type 1
: code 88644
Autosomal recessive cerebellarataxia type 2
: code 139485
Autosomal recessive cerebellarataxia with late-onset spasticity
: code 352641
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCNdeficiency
: code 404499
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUDdeficiency
: code 404493
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOXdeficiency
: code 284282
Autosomal recessive cerebellar ataxia-psychomotor retardationsyndrome
: code 284271
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
: code 363429
Autosomal recessive cerebellarataxia-saccadic intrusion syndrome
: code 95434
Autosomal recessive cerebelloparenchymal disorder type3
: code 1170
Autosomal recessive cerebralatrophy
: code 363969
Autosomal recessive Charcot- Marie-Tooth disease type 2 due toSPG11 mutation
: code 466775
Autosomal recessive Charcot- Marie-Tooth disease type 2 withneuromyotonia
: code 324442
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
: code 98856
Autosomal recessive Charcot-Marie-Tooth disease type 2B5
: code 228374
Autosomal recessive Charcot-Marie-Tooth disease type 2X
: code 466775
Autosomal recessive Charcot- Marie-Tooth disease withhoarseness
: code 101097
Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type
: code 90118
Autosomal recessive Charcot-
: code 90119
Autosomal recessive CHED
: code 293603
Autosomal recessive childhood-onset dystonia DYT29 type
: code 508093
Autosomal recessive chorioretinopathy-microcephalysyndrome
: code 2518
Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
: code 2518
Autosomal recessive complex spastic paraplegia due to Kennedypathway dysfunction
: code 506353
Autosomal recessive complexspastic paraplegia type 9B
: code 447760
Autosomal recessive complex SPG due to Kennedy pathwaydysfunction
: code 506353
Autosomal recessive congenital cerebellar ataxia due to GRID2deficiency
: code 363432
Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunitdeficiency
: code 363432
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1deficiency
: code 324262
Autosomal recessive congenital cerebellar ataxia due to MGLUR1deficiency
: code 324262
Autosomal recessive congenitalhereditary endothelial dystrophy
: code 293603
Autosomal recessive congenitalhypomyelinating neuropathy
: code 99951
Autosomal recessive cutis laxa type1
: code 90349
Autosomal recessive cutis laxa type1C
: code 221145
Autosomal recessive cutis laxa type2 classic type
: code 357074
Autosomal recessive cutis laxa type2 Debr type
: code 357074
Autosomal recessive cutis laxa type2 progeroid type
: code 357064
Autosomal recessive cutis laxa type2A
: code 357058
Autosomal recessive cutis laxa type2B
: code 357064
Autosomal recessive cutis laxa withsevere systemic involvement
: code 90349
Autosomal recessive cutis laxa pulmonary emphysema type
: code 90349
Autosomal recessive deafness-
: code 79500
Autosomal recessive distalosteolysis syndrome
: code 2776
Autosomal recessive distal renaltubular acidosis
: code 402041
Autosomal recessive distal renaltubular acidosis with deafness
: code 402041
Autosomal recessive distal renaltubular acidosis with hearing loss
: code 402041
Autosomal recessive distal renaltubular acidosis without deafness
: code 402041
Autosomal recessive distal renal tubular acidosis without hearingloss
: code 402041
Autosomal recessive distal RTA
: code 402041
Autosomal recessive distal RTAwith deafness
: code 402041
Autosomal recessive distal spinalmuscular atrophy type 1
: code 98920
Autosomal recessive distal spinalmuscular atrophy type 2
: code 139552
Autosomal recessive distal spinalmuscular atrophy type 3
: code 139547
Autosomal recessive distal spinalmuscular atrophy type 4
: code 206580
Autosomal recessive distal spinalmuscular atrophy type 5
: code 314485
Autosomal recessive dopa-responsive dystonia
: code 101150
Autosomal recessive dystrophic epidermolysis bullosa generalisatagravis
: code 79408
Autosomal recessive dystrophic epidermolysis bullosa generalisatamitis
: code 89842
Autosomal recessive dystrophic epidermolysis bullosa generalizedother
: code 89842
Autosomal recessive dystrophic epidermolysis bullosa Hallopeau-Siemens type
: code 79408
Autosomal recessive Emery-Dreifuss muscular dystrophy
: code 98855
Autosomal recessive exfoliativeichthyosis
: code 289586
Autosomal recessivefaciodigitogenital syndrome
: code 1974
Autosomal recessivefrontotemporal pachygyria
: code 329329
Autosomal recessive hyper-IgEsyndrome due to TYK2 deficiency
: code 331226
Autosomal recessive hyperinsulinemic hypoglycemia dueto Kir6.2 deficiency
: code 79644
Autosomal recessivehyperinsulinemic hypoglycemia due
: code 79643
Autosomal recessive hyperinsulinism due to Kir6.2deficiency
: code 79644
Autosomal recessive hyperinsulinism due to SUR1deficiency
: code 79643
Autosomal recessive hypohidroticectodermal dysplasia
: code 248
Autosomal recessivehypophosphatemic rickets
: code 289176
Autosomal recessive infantilehypercalcemia
: code 300547
Autosomal recessive infantilenephronophthisis
: code 93591
Autosomal recessive infantile NPHP
: code 93591
Autosomal recessive intellectualdisability due to TRAPPC9 deficiency
: code 352530
Autosomal recessive intermediateCharcot-Marie-Tooth disease type A
: code 217055
Autosomal recessive intermediateCharcot-Marie-Tooth disease type B
: code 254334
Autosomal recessive intermediateCharcot-Marie-Tooth disease type C
: code 369867
Autosomal recessive intermediateCharcot-Marie-Tooth disease type D
: code 435998
Autosomal recessive intermediateosteopetrosis
: code 210110
Autosomal recessive isolatedneurosensory deafness type DFNB
: code 90636
Autosomal recessive isolated opticatrophy
: code 98676
Autosomal recessive isolatedsensorineural deafness type DFNB
: code 90636
Autosomal recessive Kenny-Caffeysyndrome
: code 93324
Autosomal recessive lethal chondrodysplasia round femoralinferior epiphysis type
: code 1842
Autosomal recessive lethal multiplepterygium syndrome
: code 33108
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosasyndrome
: code 314572
Autosomal recessive limb-girdle muscular dystrophy due to desmindeficiency
: code 363543
Autosomal recessive limb-girdle muscular dystrophy due to ISPDdeficiency
: code 352479
Autosomal recessive limb-girdle muscular dystrophy due to plectindeficiency
: code 254361
Autosomal recessive limb-girdlemuscular dystrophy type 2A
: code 267
Autosomal recessive limb-girdlemuscular dystrophy type 2B
: code 268
Autosomal recessive limb-girdlemuscular dystrophy type 2C
: code 353
Autosomal recessive limb-girdlemuscular dystrophy type 2D
: code 62
Autosomal recessive limb-girdlemuscular dystrophy type 2E
: code 119
Autosomal recessive limb-girdlemuscular dystrophy type 2F
: code 219
Autosomal recessive limb-girdlemuscular dystrophy type 2G
: code 34514
Autosomal recessive limb-girdlemuscular dystrophy type 2H
: code 1878
Autosomal recessive limb-girdlemuscular dystrophy type 2I
: code 34515
Autosomal recessive limb-girdlemuscular dystrophy type 2J
: code 140922
Autosomal recessive limb-girdlemuscular dystrophy type 2K
: code 86812
Autosomal recessive limb-girdlemuscular dystrophy type 2L
: code 206549
Autosomal recessive limb-girdlemuscular dystrophy type 2M
: code 206554
Autosomal recessive limb-girdlemuscular dystrophy type 2N
: code 206559
Autosomal recessive limb-girdlemuscular dystrophy type 2O
: code 206564
Autosomal recessive limb-girdlemuscular dystrophy type 2P
: code 280333
Autosomal recessive limb-girdlemuscular dystrophy type 2Q
: code 254361
Autosomal recessive limb-girdlemuscular dystrophy type 2R
: code 363543
Autosomal recessive limb-girdlemuscular dystrophy type 2S
: code 369840
Autosomal recessive limb-girdlemuscular dystrophy type 2T
: code 363623
Autosomal recessive limb-girdlemuscular dystrophy type 2U
: code 352479
Autosomal recessive limb-girdlemuscular dystrophy type 2W
: code 466801
Autosomal recessive limb-girdlemuscular dystrophy type 2X
: code 476084
Autosomal recessive limb-girdlemuscular dystrophy type 2Y
: code 424261
Autosomal recessive limb-girdlemuscular dystrophy type 2Z
: code 480682
Autosomal recessive limb-girdle muscular dystrophy-cardiacarrhythmia syndrome
: code 476084
Autosomal recessive lower motor neuron disease with childhoodonset
: code 206580
Autosomal recessivelymphoproliferative disease
: code 238505
Autosomal recessive malignantosteopetrosis
: code 667
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to completeRORgamma receptor deficiency
: code 477857
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1deficiency
: code 319569
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2deficiency
: code 319574
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferongamma receptor 1 deficiency
: code 319569
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferongamma receptor 2 deficiency
: code 319574
Autosomal recessive metaphysealchondrodysplasia
: code 175
Autosomal recessivemethemoglobinemia
: code 621
Autosomal recessive MSMD due to complete RORgamma receptordefiency
: code 477857
Autosomal recessive MSMD due topartial IFNgammaR1 deficiency
: code 319569
Autosomal recessive MSMD due topartial IFNgammaR2 deficiency
: code 319574
Autosomal recessive MSMD due to partial interferon gamma receptor 1deficiency
: code 319569
Autosomal recessive MSMD due to partial interferon gamma receptor 2deficiency
: code 319574
Autosomal recessive multipleepiphyseal dysplasia
: code 93307
Autosomal recessive multiplepterygium syndrome
: code 2990
Autosomal recessive musculardystrophy due to LAP1B deficiency
: code 424261
Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
: code 424261
Autosomal recessive myogenicAMC
: code 319332
Autosomal recessive myogenicarthrogryposis multiplex congenita
: code 319332
Autosomal recessive nail dysplasia
: code 280654
Autosomal recessive non-lethalmultiple pterygium syndrome
: code 2990
Autosomal recessive non-syndromic intellectual disability
: code 88616
Autosomal recessive non- syndromic neurosensory deafnesstype DFNB
: code 90636
Autosomal recessive non- syndromic sensorineural deafnesstype DFNB
: code 90636
Autosomal recessive nonsyndromicoptic atrophy
: code 98676
Autosomal recessive omodysplasia
: code 93329
Autosomal recessive optic atrophyplus syndrome
: code 67047
Autosomal recessive optic atrophytype 3
: code 67047
Autosomal recessive optic atrophy OPA7 type
: code 227976
Autosomal recessive osteoclast- poor osteopetrosis withhypogammaglobulinemia
: code 178389
Autosomal recessive osteopetrosistype 7
: code 178389
Autosomal recessive palmoplantar hyperkeratosis and congenitalalopecia
: code 1366
Autosomal recessive palmoplantar keratoderma and congenitalalopecia
: code 1366
Autosomal recessive polycystickidney disease
: code 731
Autosomal recessive poplitealpterygium syndrome
: code 1234
Autosomal recessive posterior column ataxia and retinitispigmentosa
: code 88628
Autosomal recessive primary immunodeficiency due to RORCmutation
: code 477857
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cellcytotoxicity
: code 437552
Autosomal recessive primaryimmunodeficiency with defective spontaneous NK cell cytotoxicity
: code 437552
Autosomal recessive primarymicrocephaly
: code 2512
Autosomal recessive progressiveexternal ophthalmoplegia
: code 254886
Autosomal recessive proximal renaltubular acidosis
: code 93607
Autosomal recessivepseudohypoaldosteronism type 1
: code 171876
Autosomal recessive Robinowsyndrome
: code 1507
Autosomal recessive secondary erythrocytosis not associated withVHL gene
: code 247378
Autosomal recessive secondaryerythrocytosis non-Chuvash type
: code 247378
Autosomal recessive secondary polycythemia not associated withVHL gene
: code 247378
Autosomal recessive secondarypolycythemia non-Chuvash type
: code 247378
Autosomal recessive Segawasyndrome
: code 101150
Autosomal recessive sensoryradicular neuropathy
: code 970
Autosomal recessive sepiapterinreductase-deficient DRD
: code 70594
Autosomal recessive severe congenital neutropenia due toCSF3R deficiency
: code 420702
Autosomal recessive severe congenital neutropenia due toCXCR2 deficiency
: code 420699
Autosomal recessive severe congenital neutropenia due toG6PC3 deficiency
: code 331176
Autosomal recessive severe congenital neutropenia due toJAGN1 deficiency
: code 423384
Autosomal recessive sideroblasticanemia
: code 260305
Autosomal recessive spastic ataxiaof Charlevoix-Saguenay
: code 98
Autosomal recessive spastic ataxiatype 2
: code 397946
Autosomal recessive spastic ataxiatype 3
: code 314603
Autosomal recessive spastic ataxiatype 4
: code 254343
Autosomal recessive spastic ataxiatype 5
: code 313772
Autosomal recessive spastic ataxiatype 6
: code 98
Autosomal recessive spastic ataxiawith leukoencephalopathy
: code 314603
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
: code 254343
Autosomal recessive spasticparaplegia type 5A
: code 100986
Autosomal recessive spasticparaplegia type 11
: code 2822
Autosomal recessive spasticparaplegia type 14
: code 100995
Autosomal recessive spasticparaplegia type 15
: code 100996
Autosomal recessive spasticparaplegia type 18
: code 209951
Autosomal recessive spasticparaplegia type 20
: code 101000
Autosomal recessive spastic
: code 101001
Autosomal recessive spasticparaplegia type 23
: code 101003
Autosomal recessive spasticparaplegia type 24
: code 101004
Autosomal recessive spasticparaplegia type 25
: code 101005
Autosomal recessive spasticparaplegia type 26
: code 101006
Autosomal recessive spasticparaplegia type 27
: code 101007
Autosomal recessive spasticparaplegia type 28
: code 101008
Autosomal recessive spasticparaplegia type 32
: code 171622
Autosomal recessive spasticparaplegia type 35
: code 171629
Autosomal recessive spasticparaplegia type 39
: code 139480
Autosomal recessive spasticparaplegia type 43
: code 320370
Autosomal recessive spasticparaplegia type 44
: code 320401
Autosomal recessive spasticparaplegia type 45
: code 320396
Autosomal recessive spasticparaplegia type 46
: code 320391
Autosomal recessive spasticparaplegia type 48
: code 306511
Autosomal recessive spasticparaplegia type 49
: code 320385
Autosomal recessive spasticparaplegia type 53
: code 319199
Autosomal recessive spasticparaplegia type 54
: code 320380
Autosomal recessive spasticparaplegia type 55
: code 320375
Autosomal recessive spasticparaplegia type 56
: code 320411
Autosomal recessive spasticparaplegia type 57
: code 431329
Autosomal recessive spasticparaplegia type 58
: code 397946
Autosomal recessive spasticparaplegia type 59
: code 401795
Autosomal recessive spasticparaplegia type 60
: code 401800
Autosomal recessive spasticparaplegia type 61
: code 401780
Autosomal recessive spasticparaplegia type 62
: code 401785
Autosomal recessive spasticparaplegia type 63
: code 401805
Autosomal recessive spasticparaplegia type 64
: code 401810
Autosomal recessive spastic
: code 320396
Autosomal recessive spasticparaplegia type 66
: code 401815
Autosomal recessive spasticparaplegia type 67
: code 401820
Autosomal recessive spasticparaplegia type 68
: code 401825
Autosomal recessive spasticparaplegia type 69
: code 401830
Autosomal recessive spasticparaplegia type 70
: code 401835
Autosomal recessive spasticparaplegia type 71
: code 401840
Autosomal recessive spasticparaplegia type 74
: code 468661
Autosomal recessive spasticparaplegia type 75
: code 459056
Autosomal recessive spasticparaplegia type 76
: code 488594
Autosomal recessive spasticparaplegia type 77
: code 466722
Autosomal recessive spastic paraplegia-disc herniationsyndrome
: code 101005
Autosomal recessive spinal muscular atrophy with respiratorydistress
: code 98920
Autosomal recessivespinocerebellar ataxia type 2
: code 1170
Autosomal recessivespinocerebellar ataxia type 3
: code 95433
Autosomal recessivespinocerebellar ataxia type 6
: code 284332
Autosomal recessivespinocerebellar ataxia type 7
: code 284324
Autosomal recessivespinocerebellar ataxia type 9
: code 139485
Autosomal recessivespinocerebellar ataxia type 10
: code 284289
Autosomal recessivespinocerebellar ataxia type 11
: code 284271
Autosomal recessivespinocerebellar ataxia type 12
: code 284282
Autosomal recessivespinocerebellar ataxia type 13
: code 324262
Autosomal recessivespinocerebellar ataxia type 14
: code 352403
Autosomal recessivespinocerebellar ataxia type 15
: code 404499
Autosomal recessivespinocerebellar ataxia type 20
: code 397709
Autosomal recessivespinocerebellar ataxia type 21
: code 466794
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
: code 95433
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
: code 95433
Autosomal recessivespondylocostal dysostosis
: code 2311
Autosomal recessive spondylometaphyseal dysplasia Mgarban type
: code 401979
Autosomal recessive Sticklersyndrome
: code 250984
Autosomal recessive thrombophilia due to congenital protein Cdeficiency
: code 745
Autosomal recessive thrombophilia due to congenital protein Sdeficiency
: code 743
Autosomal recessive thrombophiliadue to PC deficiency
: code 745
Autosomal semi-dominant severelipodystrophic laminopathy
: code 280365
Autosomal SLE
: code 300345
Autosomal spastic paraplegia type30
: code 101010
Autosomal spastic paraplegia type72
: code 401849
Autosomal systemic lupuserythematosus
: code 300345
Autosomal thrombocytopenia withnormal platelets
: code 168629
AUTS2 syndrome
: code 352490
AVED
: code 96
Avellino corneal dystrophy
: code 98963
Avian influenza
: code 454836
AVMD
: code 99000
AxD
: code 58
AxD type I
: code 363717
AxD type II
: code 363722
Axenfeld anomaly
: code 98978
Axenfeld syndrome
: code 782
Axenfeld-Rieger syndrome
: code 782
Axial mesodermal dysplasiaspectrum
: code 1834
Axial osteosclerosis
: code 2777
Axial spondylometaphysealdysplasia
: code 168549
AXIN2-related AFAP
: code 401911
AXIN2-related attenuated familialadenomatous polyposis
: code 401911
AXIN2-related attenuated familialpolyposis coli
: code 401911
AXIN2-related attenuated FAP
: code 401911
Axonal Charcot-Marie-Toothdisease with pyramidal involvement
: code 101102
Axonal neuropathy-optic atrophy-cognitive deficit syndrome
: code 457205
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonalgammopathy
: code 209004
Ayazi syndrome
: code 1435
Aym-Gripp syndrome
: code 1272
AZOOR
: code 284454
Azoospermia due to maturationarrest
: code 399805
Azoospermia due to meiosis defect
: code 399805
Azoospermia-sinopulmonaryinfections syndrome
: code 3471
Azorean disease of the nervoussystem
: code 98757
Azygos continuation of the inferiorcaval vein
: code 99121
Azygos continuation of the inferiorvena cava
: code 99121
Azygos continuation of the IVC
: code 99121
B4GALT1-CDG
: code 79332
B4GALT7-CDG
: code 75496
B-ALL
: code 99860
B-cell chronic lymphocytic leukemia
: code 67038
B-cell chronic lymphoid leukemia
: code 67038
B-cell expansion with NF-kB and T-cell anergy disease
: code 464336
B-cell prolymphocytic leukemia
: code 86852
B-CLL
: code 67038
B-K mole syndrome
: code 404560
B-PLL
: code 86852
Babesiosis
: code 108
Bacterial myositis
: code 206994
Bacterial toxic-shock syndrome
: code 36234
Bacterial TSS
: code 36234
BADI
: code 69736
BAFME
: code 86814
Bahemuka-Brown syndrome
: code 2819
Bainbridge-Roppers syndrome
: code 352577
Baird syndrome
: code 1658
Bakrania-Ragge syndrome
: code 139471
Balantidiasis
: code 1223
Balantidiosis
: code 1223
Balikova-Vermeesch syndrome
: code 139450
Balint syndrome
: code 363746
Balint-Holmes syndrome
: code 363746
Ballard syndrome
: code 93395
Baller-Gerold syndrome
: code 1225
Ballooning cardiomyopathy
: code 66529
Bal concentric sclerosis
: code 228165
Bamboo hair syndrome
: code 634
Bamforth syndrome
: code 1226
Bamforth-Lazarus syndrome
: code 1226
Band-shaped and whorled microcystic dystrophy of the cornealepithelium
: code 98955
Bangstad syndrome
: code 1227
Bangungut
: code 130
Banki syndrome
: code 1228
Bannayan-Riley-Ruvalcabasyndrome
: code 109
Bantu siderosis
: code 139507
BAP1-related tumor predispositionsyndrome
: code 289539
Baraitser-Brett-Piesowicz syndrome
: code 1229
Baraitser-Burn syndrome
: code 2753
Baraitser-Reardon syndrome
: code 1229
Baraitser-Wintercerebrofrontofacial syndrome
: code 2995
Barakat syndrome
: code 2237
Barber-Say syndrome
: code 1231
Bardet-Biedl syndrome
: code 110
Bare lymphocyte syndrome type 1
: code 34592
Bare lymphocyte syndrome type 2
: code 572
Barnes syndrome
: code 3317
Baroreflex failure
: code 443084
Barraquer-Simons syndrome
: code 79087
Bart-Pumphrey syndrome
: code 2698
Barth syndrome
: code 111
Bartonellosis due to Bartonellabacilliformis infection
: code 64692
Bartonellosis due to Bartonellahenselae infection
: code 50839
Bartonellosis due to Bartonellaquintana infection
: code 64694
Bartsocas-Papas syndrome
: code 1234
Bartter syndrome
: code 112
Bartter syndrome type 3
: code 93605
Bartter syndrome type 4
: code 89938
Bartter syndrome type 5
: code 263417
Bartter syndrome type III
: code 93605
Bartter syndrome type IV
: code 89938
Bartter syndrome type V
: code 263417
Bartter syndrome withhypocalcemia
: code 263417
Bartter syndrome furosemide type
: code 93604
Bartter syndrome furosemide-amiloride type
: code 93604
Basal cell carcinoma of vulva
: code 494451
Basal cell nevus syndrome
: code 377
Basal encephalocele
: code 268829
Basan syndrome
: code 1658
BASD1
: code 79301
BASD2
: code 79303
BASD3
: code 79302
BASD4
: code 79095
Basel-Vanagaite-Sirota syndrome
: code 50810
BASM syndrome
: code 244283
Bassen-Kornzweig disease
: code 14
Bassoe syndrome
: code 1875
Bathing suit ichthyosis
: code 100976
Battaglia-Neri syndrome
: code 1948
Batten disease
: code 79264
Baughman syndrome
: code 1071
Bazex syndrome
: code 166113
Bazex-Dupr-Christol syndrome
: code 113
BBGD
: code 65284
BBIS
: code 363444
BBS
: code 110
BBSOAS
: code 401777
BCD
: code 41751
BCD syndrome
: code 1997
BCIE
: code 312
BCKD deficiency
: code 511
BCKDH deficiency
: code 511
BDC
: code 247203
BDCS
: code 113
Beals syndrome
: code 115
Beals-Hecht syndrome
: code 115
Bean syndrome
: code 1059
Beare-Stevenson cutis gyratasyndrome
: code 1555
Beaulieu-Boycott-Innes syndrome
: code 363444
Becker dystrophinopathy
: code 98895
Becker muscular dystrophy
: code 98895
Becker nevus syndrome
: code 64755
Beckwith-Wiedemann syndrome
: code 116
Beckwith-Wiedemann syndromedue to 11p15 microdeletion
: code 231127
Beckwith-Wiedemann syndromedue to 11p15 microduplication
: code 96076
Beckwith-Wiedemann syndromedue to 11p15 translocation/inversion
: code 231130
Beckwith-Wiedemann syndromedue to CDKN1C mutation
: code 231120
Beckwith-Wiedemann syndromedue to imprinting defect of 11p15
: code 231117
Beckwith-Wiedemann syndromedue to NSD1 mutation
: code 238613
Beckwith-Wiedemann syndrome due to paternal uniparental disomyof chromosome 11
: code 96193
BECRS
: code 1945
BECTS
: code 1945
Bedouin spastic ataxia syndrome
: code 2572
BEEC
: code 322
Beemer-Ertbruggen syndrome
: code 1237
Behavioral variant offrontotemporal dementia
: code 275864
Behrens-Baumann-Vogel syndrome
: code 2705
Behet disease
: code 117
Behet-like disease due to HA20
: code 476102
Behet-like disease due tohaploinsufficiency of A20
: code 476102
Bellini carcinoma
: code 247203
Bellini duct carcinoma
: code 247203
Bellini syndrome
: code 1240
Benallegue-Lacete syndrome
: code 100978
Bencze syndrome
: code 1241
Benign adult familial myoclonicepilepsy
: code 86814
Benign adult familial myoclonusepilepsy
: code 86814
Benign autosomal dominantmyopathy
: code 610
Benign cephalic histiocytosis
: code 157997
Benign childhood occipital epilepsy Gastaut type
: code 98816
Benign childhood occipital epilepsy Panayiotopoulos type
: code 98815
Benign chronic familial pemphigusof Hailey-Hailey
: code 2841
Benign concentric annular maculardystrophy
: code 251287
Benign congenital sixth cranialnerve palsy
: code 440233
Benign COX deficiency
: code 254864
Benign epilepsy of childhood withcentrotemporal spikes
: code 1945
Benign epithelial tumor of salivaryglands
: code 276148
Benign familial chorea
: code 1429
Benign familial epilepsy ofchildhood with rolandic spikes
: code 1945
Benign familial infantile convulsions
: code 306
Benign familial infantile epilepsy
: code 306
Benign familial infantile seizures
: code 306
Benign familial mesial temporallobe epilepsy
: code 163717
Benign familial neonatalconvulsions
: code 1949
Benign familial neonatal epilepsy
: code 1949
Benign familial neonatal seizures
: code 1949
Benign familial neonatal-infantileseizures
: code 140927
Benign FMTLE
: code 163717
Benign focal amyotrophy
: code 65684
Benign focal seizures ofadolescence
: code 1544
Benign hereditary chorea
: code 1429
Benign hyperferritinemia
: code 254704
Benign idiopathic neonatal seizures
: code 64545
Benign infantile focal epilepsy with midline spikes and waves duringsleep
: code 166308
Benign infantile seizures associatedwith mild gastroenteritis
: code 166305
Benign intracranial hypertension
: code 238624
Benign joint hypermobility
: code 285
Benign metanephric tumour
: code 464359
Benign multicystic peritonealmesothelioma
: code 168816
Benign myoclonic epilepsy ofinfancy
: code 86909
Benign myoclonus epilepsy ofinfancy
: code 86909
Benign neonatal-infantile epilepsy
: code 140927
Benign nocturnal alternatinghemiplegia of childhood
: code 209973
Benign nonfamilial neonatalseizures
: code 64545
Benign occipital epilepsy
: code 25968
Benign paroxysmal peritonitis
: code 342
Benign paroxysmal tonic upgaze ofchildhood with ataxia
: code 1179
Benign paroxysmal torticollis ofinfancy
: code 71518
Benign partial epilepsy of infancywith complex partial seizures
: code 166299
Benign partial epilepsy with secondarily generalized seizures ininfancy
: code 166302
Benign recurrent intrahepaticcholestasis
: code 65682
Benign recurrent intrahepaticcholestasis type 1
: code 99960
Benign recurrent intrahepaticcholestasis type 2
: code 99961
Benign recurrent polyserositis
: code 342
Benign rolandic epilepsy
: code 1945
Benign Samaritan congenitalmyopathy
: code 324581
Benign schwannoma
: code 252164
Benign tumor of fallopian tubes
: code 180237
Bennion-Patterson syndrome
: code 2198
Benson syndrome
: code 54247
BENTA disease
: code 464336
Beradinelli-Seip syndrome
: code 528
Berant syndrome
: code 171839
Berardinelli-Seip congenitallipodystrophy
: code 528
Berdon syndrome
: code 2241
Berlin breakage syndrome
: code 647
Berlin syndrome
: code 1816
Bernard-Soulier syndrome
: code 274
Berti lymphoma
: code 178528
Berylliosis
: code 133
Besnier-Boeck-Schaumann disease
: code 797
Bessel-Hagen disease
: code 321
Best disease
: code 1243
Best macular dystrophy
: code 1243
Best vitelliform macular dystrophy
: code 1243
Beta-1 4-galactosyltransferase
: code 79332
Beta-alanine synthase deficiency
: code 65287
Beta-D-galactosidase deficiency
: code 309310
Beta-galactosidase-1 deficiency
: code 354
Beta-glucuronidase deficiency
: code 584
Beta-ketothiolase deficiency
: code 134
Beta-mannosidase deficiency
: code 118
Beta-mannosidosis
: code 118
Beta-mercaptolactate cysteinedisulfiduria
: code 1035
Beta-propeller protein-associatedneurodegeneration
: code 329284
Beta-sarcoglycanopathy
: code 119
Beta-thalassemia
: code 848
Beta-thalassemia intermedia
: code 231222
Beta-thalassemia major
: code 231214
Beta-thalassemia-trichothiodystrophy syndrome
: code 33364
Beta-thalassemia-X-linkedthrombocytopenia syndrome
: code 231393
Beta-ureidopropionase deficiency
: code 65287
Bethlem myopathy
: code 610
Beukes familial hip dysplasia
: code 2114
BFHD
: code 2114
BFIE
: code 306
BFIS
: code 306
BFLS
: code 127
BFNIS
: code 140927
BFNS
: code 1949
BH4-responsive HPA/PKU
: code 293284
BH4-responsive hyperphenylalaninemia/phenylketonuria
: code 293284
BHC
: code 1429
BHMED
: code 93311
Biber-Haab-Dimmer dystrophy
: code 98964
Bicervical bicornuate uterus
: code 180086
Bicervical bicornuate uterus andblind hemivagina
: code 180106
Bicervical bicornuate uterus withpatent cervix and vagina
: code 180111
Bickel-Fanconi glycogenosis
: code 2088
Bickers-Adams syndrome
: code 2182
Bickerstaff brainstem encephalitis
: code 79138
Bidirectional tachycardia inducedby catecholamine
: code 3286
BIDS syndrome
: code 33364
Biemond syndrome
: code 1246
Biemond syndrome type 2
: code 141333
Bietti crystalline corneoretinaldystrophy
: code 41751
Bietti crystalline dystrophy
: code 41751
Bietti crystalline retinopathy
: code 41751
Bifid femur-monodactylous
: code 1986
Bifid nose
: code 2695
Bifid nose with or withoutanorectal and renal anomalies
: code 217266
Bifid uvula
: code 99771
Bifidity of the uvula
: code 99771
Bifunctional enzyme deficiency
: code 300
Bilateral acousticneurofibromatosis
: code 637
Bilateral acute depigmentation ofthe iris
: code 69736
Bilateral adrenal hemorrhage
: code 319205
Bilateral anorchia
: code 325124
Bilateral anterior opercularsyndrome
: code 2048
Bilateral band-like calcification withpolymicrogyria
: code 1229
Bilateral frontal polymicrogyria
: code 208444
Bilateral frontoparietalpolymicrogyria
: code 101070
Bilateral generalized polymicrogyria
: code 208447
Bilateral hereditary micro-epiphyseal dysplasia
: code 93311
Bilateral hip and radial head dislocations-short stature-scoliosis- carpal coalitions-pes cavus-facialdysmorphism syndrome
: code 438117
Bilateral massive adrenalhemorrhage
: code 319205
Bilateral MCDK
: code 97364
Bilateral microtia-deafness-cleftpalate syndrome
: code 140963
Bilateral multicystic dysplastickidney
: code 97364
Bilateral multicystic renal dysplasia
: code 97364
Bilateral parasagittal parieto-occipital polymicrogyria
: code 208441
Bilateral perisylvian polymicrogyria
: code 98889
Bilateral polymicrogyria
: code 268940
Bilateral striopallidodentatecalcinosis
: code 1980
Bilateral symmetrical thalamicgliosis
: code 1314
Bile acid CoA ligase deficiency anddefective amidation
: code 276066
Bile duct cancer
: code 70567
Bilginturan brachydactyly
: code 1276
Bilginturan syndrome
: code 1276
Bilharziasis
: code 1247
Biliary atresia with splenicmalformation syndrome
: code 244283
Biliary cystadenocarcinoma
: code 424982
Biliary hamartoma
: code 386
Biliary tract malformation-renalfailure syndrome
: code 2697
Bilineal acute leukemia
: code 98836
Bilirubin encephalopathy
: code 415286
Bilirubin uridinediphosphateglucuronosyltransferase deficiency
: code 205
Bilirubin uridinediphosphate glucuronosyltransferase deficiencytype 1
: code 79234
Bilirubin uridinediphosphate glucuronosyltransferase deficiencytype 2
: code 79235
Bilirubin-UGT deficiency
: code 205
Bilirubin-UGT deficiency type 1
: code 79234
Bilirubin-UGT deficiency type 2
: code 79235
Billard-Toutain-Maheut syndrome
: code 1799
BIMSE
: code 166308
Binder syndrome
: code 1248
Bindewald-Ulmer-Mller syndrome
: code 3304
BINS
: code 64545
Biotin-responsive basal gangliadisease
: code 65284
Biotin-thiamine-responsive basalganglia disease
: code 65284
Biotinidase deficiency
: code 79241
Biparietal Alzheimer disease
: code 54247
Bipartite talus
: code 364198
Bird fancier lung
: code 99908
Bird-headed dwarfism Montrealtype
: code 2617
Birdshot chorioretinitis
: code 179
Birdshot chorioretinopathy
: code 179
Birdshot retinochoroiditis
: code 179
Birdshot retinochoroidopathy
: code 179
Birt-Hogg-Dub syndrome
: code 122
Bitemporal aplasia cutis congenita
: code 79133
Bixler-Christian-Gorlin syndrome
: code 2213
BJHS
: code 285
Bjrnstad syndrome
: code 123
Blackfan-Diamond anemia
: code 124
Bladder exstrophy
: code 93930
Bladder exstrophy-epispadias-cloacal extrophy complex
: code 322
Bladder pain syndrome
: code 37202
Blake pouch cyst
: code 98922
Blaschkoid lichen planus
: code 254379
Blaschkoid LP
: code 254379
Blastic NK-cell lymphoma
: code 86870
Blastic plasmacytoid dendritic cellneoplasm
: code 86870
Blastogenesis defect
: code 1834
Blau syndrome
: code 90340
BLC
: code 50945
BLC-PMG
: code 1229
Bleeding diathesis due to a collagenreceptor defect
: code 73271
Bleeding diathesis due toglycoprotein VI deficiency
: code 98885
Bleeding diathesis due to integrinalpha2-beta1 deficiency
: code 98886
Bleeding diathesis due tothromboxane synthesis deficiency
: code 220443
Bleeding disorder due to calcium-and DAG-regulated guanine exchange factor-1 deficiency
: code 420566
Bleeding disorder due to CalDAG-GEFI deficiency
: code 420566
Blepharo-cheilo-odontic syndrome
: code 1997
Blepharochalasis-double lipsyndrome
: code 1253
Blepharocheilodontic syndrome
: code 1997
Blepharofacioskeletal syndrome
: code 2353
Blepharonasofacial malformationsyndrome
: code 1252
Blepharophimosis syndrome Ohdotype
: code 2728
Blepharophimosis types 1 and 2
: code 126
Blepharophimosis types 1 and 2due to a point mutation
: code 261572
Blepharophimosis types 1 and 2due to copy number variations
: code 261579
Blepharophimosis-epicanthus inversus-ptosis due to 3q23rearrangement syndrome
: code 261559
Blepharophimosis-epicanthusinversus-ptosis due to a CNV
: code 261579
Blepharophimosis-epicanthus inversus-ptosis due to a pointmutation syndrome
: code 261572
Blepharophimosis-epicanthus inversus-ptosis due to copy numbervariations
: code 261579
Blepharophimosis-epicanthusinversus-ptosis syndrome
: code 126
Blepharophimosis-intellectual disability syndrome due to UBE3Bdeficiency
: code 2707
Blepharophimosis-intellectualdisability syndrome type V
: code 293725
Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type
: code 293707
Blepharophimosis-intellectualdisability syndrome MKB type
: code 293707
Blepharophimosis-intellectualdisability syndrome Ohdo type
: code 2728
Blepharophimosis-intellectualdisability syndrome SBBYS type
: code 3047
Blepharophimosis-intellectualdisability syndrome Verloes type
: code 293725
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
: code 2057
Blepharophimosis-telecanthus-microstomia syndrome
: code 1968
Blepharoptosis-myopia-ectopialentis syndrome
: code 1259
Blepharospasm-oromandibulardystonia syndrome
: code 93964
Blindness-scoliosis-arachnodactylysyndrome
: code 171844
Bloch-Siemens syndrome
: code 464
Bloch-Sulzberger syndrome
: code 464
Blomstrand chondrodysplasia
: code 50945
Blomstrand lethal chondrodysplasia
: code 50945
Blomstrand osteochondrodysplasia
: code 50945
Bloom syndrome
: code 125
Blount disease
: code 2768
Blue colour blindness
: code 88629
Blue cone monochromacy
: code 16
Blue cone monochromatism
: code 16
Blue diaper syndrome
: code 94086
Blue rubber bleb nevus
: code 1059
Blue-dot cataract
: code 98989
BMAH
: code 319205
BMD
: code 1243
BMD
: code 98895
BMRS type V
: code 293725
BMRS Maat-Kievit-Brunner type
: code 293707
BMRS MKB type
: code 293707
BMRS Ohdo type
: code 2728
BMRS Verloes type
: code 293725
BMS
: code 353253
BNAR syndrome
: code 217266
BOCD
: code 50945
Bockenheimer syndrome
: code 217008
BOD syndrome
: code 1292
Boder syndrome
: code 2724
Body cavity-based lymphoma
: code 48686
Body skin hyperlaxity due to vitamin K-dependent coagulationfactor deficiency
: code 91135
Boeck sarcoid
: code 797
Boeck’s sarcoid
: code 797
BOFS
: code 1297
Bohring syndrome
: code 97297
Bohring-Opitz syndrome
: code 97297
Boichis disease
: code 84081
BOLA3 deficiency
: code 401874
Bolivian hemorrhagic fever
: code 319229
Bone dysplasia lethal Holmgrentype
: code 1842
Bone dysplasia-medullaryfibrosarcoma syndrome
: code 85182
Bone fragility-contractures-arterialrupture-deafness syndrome
: code 300284
Bone fragility-craniosynostosis-
: code 2050
Bonneau syndrome
: code 2934
Bonneau-Beaumont syndrome
: code 163
Bonnemann-Meinecke syndrome
: code 2941
Bonnemann-Meinecke-Reichsyndrome
: code 1261
Bonnet-Dechaume-Blanc syndrome
: code 53719
Bk syndrome
: code 1262
Boomerang dysplasia
: code 1263
BOOP
: code 1303
Booth-Haworth-Dilling syndrome
: code 1933
BOR syndrome
: code 107
Borderline epithelial tumor of ovary
: code 206473
Borderline ovarian epithelial tumor
: code 206473
Borjeson-Forssman-Lehmannsyndrome
: code 127
Bork syndrome
: code 1264
Bornholm eye disease
: code 90001
Borrmann gastric cancer type 4
: code 36273
BOS syndrome
: code 97297
Bosch-Boonstra-Schaaf opticatrophy syndrome
: code 401777
Bosley-Salih-Alorainy syndrome
: code 69737
Bosma arhinia-microphthalmiasyndrome
: code 2250
Bosma-Henkin-Christiansensyndrome
: code 2250
Bothnia retinal dystrophy
: code 85128
Bothriocephalosis
: code 128
Botulism
: code 1267
Boucher-Neuhuser syndrome
: code 1180
Bourneville syndrome
: code 805
Boutonneuse fever
: code 83313
Bowen syndrome
: code 912
Bowen syndrome Hutterite type
: code 1270
Bowen-Conradi syndrome
: code 1270
Boxer’s dementia
: code 97353
Boyadjiev-Jabs syndrome
: code 50814
BPAN
: code 329284
BPD
: code 70589
BPDCN
: code 86870
Brachial plexus neuritis
: code 2901
Brachmann-de Lange syndrome
: code 199
Brachycephalofrontonasal dysplasia
: code 1519
Brachycephaly-deafness-cataract-intellectual disability syndrome
: code 1272
Brachydactylous dwarfism Mselenitype
: code 2619
Brachydactyly type A1
: code 93388
Brachydactyly type A2
: code 93396
Brachydactyly type A4
: code 93394
Brachydactyly type A5
: code 93389
Brachydactyly type A6
: code 93382
Brachydactyly type A7
: code 93397
Brachydactyly type B
: code 93383
Brachydactyly type B2
: code 140908
Brachydactyly type C
: code 93384
Brachydactyly type E
: code 93387
Brachydactyly type E with shortstature and hypertension
: code 1276
Brachydactyly types B and Ecombined
: code 93395
Brachydactyly Farabee type
: code 93388
Brachydactyly long thumb type
: code 2946
Brachydactyly Mohr-Wriedt type
: code 93396
Brachydactyly Smorgasbord type
: code 93397
Brachydactyly Temtamy type
: code 93394
Brachydactyly-arterial hypertensionsyndrome
: code 1276
Brachydactyly-elbow wristdysplasia syndrome
: code 1275
Brachydactyly-intellectual disabilitysyndrome
: code 1001
Brachydactyly-joint dysplasiasyndrome
: code 1275
Brachydactyly-long thumbsyndrome
: code 2946
Brachydactyly-mesomelia- intellectual disability-heart defectssyndrome
: code 1277
Brachydactyly-nystagmus-cerebellar ataxia syndrome
: code 1246
Brachydactyly-preaxial hallux varussyndrome
: code 1278
Brachydactyly-scoliosis-carpalfusion syndrome
: code 2956
Brachydactyly-short stature-microcephaly syndrome
: code 391646
Brachydactyly-short stature-retinitis pigmentosa syndrome
: code 166035
Brachydactyly-symphalangismsyndrome
: code 3168
Brachydactyly-syndactyly Zhaotype
: code 93409
Brachymesophalangy II and V
: code 93394
Brachymorphism-onychodysplasia-dysphalangism syndrome
: code 1292
Brachyolmia type 1 Hobaek type
: code 448242
Brachyolmia type 1 Toledo type
: code 448242
Brachyolmia type 2
: code 93302
Brachyolmia type 3
: code 93304
Brachyolmia Hobaek/Toledo type
: code 448242
Brachyolmia Maroteaux type
: code 93302
Brachyolmia-amelogenesisimperfecta syndrome
: code 2899
Brachytelephalangicchondrodysplasia punctata
: code 79345
Brachytelephalangy-dysmorphism-Kallmann syndrome
: code 1295
Bradbury-Eggleston syndrome
: code 441
Braddock syndrome
: code 52047
Braddock-Carey syndrome
: code 3323
Braddock-Jones-Superneausyndrome
: code 1538
Bradyopsia
: code 75374
Brain calcification Rajab type
: code 178506
Brain demyelination due to methionine adenosyltransferasedeficiency
: code 168598
Brain dopamine-serotonin vesiculartransport disease
: code 352649
Brain malformation-congenital heart disease-postaxial polydactylysyndrome
: code 75389
Brain malformations- musculoskeletal abnormalities-facial dysmorphism-intellectual disabilitysyndrome
: code 500150
Brain stem asymmetry-superior cerebellar and basal gangliadysplasia syndrome
: code 467166
Brain-lung-thyroid syndrome
: code 209905
Branch pulmonary artery stenosis
: code 99084
Branched chain alpha-ketoaciddehydrogenase complex deficiency
: code 255182
Branched-chain 2-ketoaciddehydrogenase deficiency
: code 511
Branched-chain ketoaciduria
: code 511
Branchial dysplasia-intellectualdisability-inguinal hernia syndrome
: code 1296
Branchio-oculo-facial syndrome
: code 1297
Branchiogenic deafness syndrome
: code 50815
Branchiootic syndrome
: code 52429
Branchiootorenal syndrome
: code 107
Branchioskeletogenital syndrome
: code 1299
Brauer syndrome
: code 79133
Braun-Bayer syndrome
: code 2669
Brazilian hemorrhagic fever
: code 319239
BRBN
: code 1059
BRE
: code 1945
BRESEK syndrome
: code 85284
BRESHECK syndrome
: code 85284
BRIC
: code 65682
BRIC1
: code 99960
BRIC2
: code 99961
BRIC type 1
: code 99960
BRIC type 2
: code 99961
Brill disease
: code 99990
Brill-Zinsser disease
: code 99990
Brittle bone disease
: code 666
Brittle cornea syndrome
: code 90354
Brittle hair syndrome Sabinas type
: code 33364
Brittle hair-mental deficiencysyndrome
: code 33364
Broad thumb-hallux syndrome
: code 783
Broad thumbs-halluces syndrome
: code 783
Broad-betalipoproteinemia
: code 412
Brody myopathy
: code 53347
Broken heart syndrome
: code 66529
Bronchial NET
: code 97287
Bronchial neuroendocrine tumor
: code 97287
Bronchiectasis-oligospermiasyndrome
: code 3471
Bronchiolitis obliterans organizingpneumonia
: code 1302
Bronchiolitis obliterans withobstructive pulmonary disease
: code 1303
Bronchogenic cyst
: code 2357
Bronchopulmonary dysplasia
: code 70589
Bronspiegel-Zelnick syndrome
: code 1116
Bronze John
: code 99829
Brooke-Spiegler syndrome
: code 79493
Brown-Vialetto-van Laeresyndrome
: code 97229
BRRS
: code 109
BRSS
: code 2353
Brucellosis
: code 1304
Bruck syndrome
: code 2771
Brugada syndrome
: code 130
Brunner syndrome
: code 3057
Brunner-Winter syndrome
: code 1305
Brunner-Winter syndrome type 1
: code 391641
Brunner-Winter syndrome type 2
: code 391646
Brunzell syndrome
: code 528
Brunzell syndrome
: code 528
Bruton type agammaglobulinemia
: code 47
BSCL
: code 528
BSEP deficiency
: code 79304
BSG syndrome
: code 1299
BSI
: code 100976
BSPDC
: code 1980
BSyn
: code 125
BTBGD
: code 65284
BTD deficiency
: code 79241
BTHS
: code 111
BTK-deficiency
: code 47
Buckley syndrome
: code 2314
Budd-Chiari syndrome
: code 131
Buerger disease
: code 36258
Bull-Nixon syndrome
: code 2285
Bullous congenital ichthyosiformerythroderma
: code 312
Bullous congenital ichthyosiformerythroderma of Brock
: code 312
Bullous DCM
: code 280785
Bullous diffuse cutaneousmastocytosis
: code 280785
Bullous dystrophy macular type
: code 1867
Bullous ichthyosis
: code 312
Bullous impetigo
: code 36237
Bullous lichen planus
: code 33408
Bullous pemphigoid
: code 703
Buntinx-Lormans-Martin syndrome
: code 193
Buphthalmia
: code 98976
Buphthalmos
: code 98976
Buphthalmus
: code 98976
Burkitt lymphoma
: code 543
Burn-McKeown syndrome
: code 1200
Burning mouth syndrome
: code 353253
Burton skeletal dysplasia
: code 800
Burton syndrome
: code 800
Buschke scleredema
: code 352763
Buschke-Fischer-Brauer syndrome
: code 79501
Buschke-Ollendorff syndrome
: code 1306
Butterfly-shaped pattern dystrophy
: code 99001
Butterfly-shaped pigmentdystrophy
: code 99001
Butterfly-shaped pigmentarymacular dystrophy
: code 99001
Buttiens-Fryns syndrome
: code 1307
Butyrylcholinesterase deficiency
: code 132
bv-FTD
: code 275864
BVMD
: code 1243
BWS
: code 116
Byler disease
: code 79306
C1 inhibitor deficiency
: code 459353
C3 deficiency
: code 280133
C3 deposition glomerulonephritiswithout proliferation
: code 329931
C3 glomerulonephritis
: code 329931
C3 glomerulopathy
: code 329918
C9ORF72-related Huntingtondisease phenocopy
: code 401901
C9ORF72-related Huntingtondisease-like syndrome
: code 401901
C syndrome
: code 1308
C-beta-thalassemia
: code 231242
C-like syndrome
: code 97297
C11ORF73-related autosomal recessive hypomyelinatingleukodystrophy
: code 495844
C11ORF73-related autosomalrecessive hypomyelinating leukoencephalopathy
: code 495844
CA-VA deficiency
: code 401948
Cabezas syndrome
: code 85293
CABV syndrome
: code 504476
Cacchi-Ricci disease
: code 1309
CACD
: code 75377
CACH syndrome
: code 135
CACP syndrome
: code 2848
CACT deficiency
: code 159
CAD
: code 56425
CAD-CDG
: code 448010
CADASIL
: code 136
CADDS
: code 369942
CAEBV syndrome
: code 2566
Caffey disease
: code 1310
CAGSSS
: code 436174
CAH due to 3-beta-hydroxysteroiddehydrogenase deficiency
: code 90791
CAH due to 11-beta-hydroxylasedeficiency
: code 90795
CAH due to 17-alpha-hydroxylasedeficiency
: code 90793
CAHMR syndrome
: code 1375
CAID syndrome
: code 435988
CAIS
: code 99429
Calcification of joints and arteries
: code 289601
Calcified epithelial carcinoma ofMalherbe
: code 499182
Calcifying aponeurotic fibroma
: code 199260
Calcifying epitheliocarcinoma
: code 499182
Calcinosis-Raynaud phenomenon- esophageal involvement- sclerodactyly-telangiectasiasyndrome
: code 90290
Calciphylaxis
: code 280062
Calciphylaxis cutis
: code 280065
Calcium pyrophosphate dihydratecrystal deposition disease
: code 1416
Caldern-Gonzlez-Cantu syndrome
: code 1408
California disease
: code 228123
Californian encephalitis
: code 83483
CALJA
: code 289601
Calvarial doughnut lesions-bonefragility syndrome
: code 85192
CAMAK syndrome
: code 1466
Camera syndrome
: code 3003
Camero-Lituania-Cohen syndrome
: code 2163
CAMFAK syndrome
: code 1466
Camisa disease
: code 79395
CAMOS syndrome
: code 83472
Campomelia Cumming type
: code 1318
Campomelic dwarfism
: code 140
Campomelic dysplasia
: code 140
Camptobrachydactyly
: code 1319
Camptodactyly of fingers
: code 295016
Camptodactyly syndrome Guadalajara type 1
: code 1327
Camptodactyly syndrome Guadalajara type 2
: code 1326
Camptodactyly syndrome Guadalajara type 3
: code 488434
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
: code 2848
Camptodactyly-cleft palate-
: code 376
Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasiasyndrome
: code 1321
Camptodactyly-joint contractures-facial skeletal defects syndrome
: code 1323
Camptodactyly-overgrowth-unusual facies syndrome
: code 3447
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
: code 85164
Camptodactyly-taurinuriasyndrome
: code 1325
CAMRQ syndrome
: code 1766
CAMS1
: code 141194
CAMS2
: code 53719
CAMS3
: code 141199
CAMT
: code 3319
Camurati-Engelmann disease
: code 1328
Canale-Smith syndrome
: code 3261
Canavan disease
: code 141
Cancer diagnosed during pregnancy
: code 289385
Cancer of fallopian tubes
: code 180242
Cancer-associated retinopathy
: code 71505
Cancrum oris
: code 2700
CANDLE syndrome
: code 325004
CANOMAD syndrome
: code 71279
Cantalamessa-Baldini-Ambrosisyndrome
: code 2233
Cantrell deformity
: code 1335
Cantrell syndrome
: code 1335
Cantu craniofaciofrontodigitalsyndrome
: code 363705
CANVAS
: code 504476
Cap disease
: code 171881
Cap inflammatory polyposis
: code 160148
Cap myopathy
: code 171881
Cap polyposis
: code 160148
CAP syndrome
: code 85199
Capdepont teeth
: code 166260
CAPE dystrophy
: code 75327
CAPED
: code 75327
Capillary hyperpermeabilitysyndrome
: code 188
Capillary leak syndrome
: code 188
Capillary lymphangioma
: code 79490
Capillary lymphatic malformation
: code 79490
Capillary malformation-arteriovenous malformation
: code 137667
CAPOS syndrome
: code 1171
Capra-DeMarco syndrome
: code 171839
CAPS
: code 464343
CAR syndrome
: code 71505
CARASIL
: code 199354
Carbamoyl-phosphate synthetase 1
: code 147
Carbamoyl-phosphate synthetasedeficiency
: code 147
Carbamoyl-phosphate synthetase Ideficiency
: code 147
Carbohydrate deficientglycoprotein syndrome type 1L
: code 79328
Carbohydrate deficientglycoprotein syndrome type Ia
: code 79318
Carbohydrate deficientglycoprotein syndrome type Ib
: code 79319
Carbohydrate deficientglycoprotein syndrome type Ic
: code 79320
Carbohydrate deficientglycoprotein syndrome type Id
: code 79321
Carbohydrate deficientglycoprotein syndrome type Ie
: code 79322
Carbohydrate deficientglycoprotein syndrome type If
: code 79323
Carbohydrate deficientglycoprotein syndrome type Ig
: code 79324
Carbohydrate deficientglycoprotein syndrome type Ih
: code 79325
Carbohydrate deficientglycoprotein syndrome type Ii
: code 79326
Carbohydrate deficient glycoprotein syndrome type II dueto MAN1B1 deficiency
: code 397941
Carbohydrate deficientglycoprotein syndrome type IIa
: code 79329
Carbohydrate deficientglycoprotein syndrome type IIb
: code 79330
Carbohydrate deficientglycoprotein syndrome type IId
: code 79332
Carbohydrate deficientglycoprotein syndrome type IIe
: code 79333
Carbohydrate deficientglycoprotein syndrome type IIf
: code 238459
Carbohydrate deficientglycoprotein syndrome type IIg
: code 263508
Carbohydrate deficientglycoprotein syndrome type IIh
: code 95428
Carbohydrate deficientglycoprotein syndrome type IIi
: code 263487
Carbohydrate deficientglycoprotein syndrome type IIj
: code 263501
Carbohydrate deficientglycoprotein syndrome type IIk
: code 314667
Carbohydrate deficientglycoprotein syndrome type IIn
: code 468699
Carbohydrate deficientglycoprotein syndrome type IIo
: code 468684
Carbohydrate deficientglycoprotein syndrome type IIp
: code 466703
Carbohydrate deficientglycoprotein syndrome type Ij
: code 86309
Carbohydrate deficientglycoprotein syndrome type Ik
: code 79327
Carbohydrate deficientglycoprotein syndrome type Im
: code 91131
Carbohydrate deficientglycoprotein syndrome type In
: code 244310
Carbohydrate deficientglycoprotein syndrome type Io
: code 263494
Carbohydrate deficientglycoprotein syndrome type Ip
: code 280071
Carbohydrate deficientglycoprotein syndrome type Ir
: code 300536
Carbohydrate deficientglycoprotein syndrome type Iu
: code 329178
Carbohydrate deficientglycoprotein syndrome type Ix
: code 370924
Carbohydrate deficientglycoprotein syndrome type Iy
: code 370927
Carbohydrate deficientglycoprotein syndrome type Iz
: code 448010
Carbon monoxide-inducedparkinsonism
: code 306686
Carbonic anhydrase 2 deficiency
: code 2785
Carcinofibroma of the corpus uteri
: code 213605
Carcinoid syndrome
: code 100093
Carcinoma associated withMITF/TFE translocation
: code 319308
Carcinoma of esophagus salivarygland type
: code 418945
Carcinoma of stomach salivarygland type
: code 423781
Carcinoma of the ampulla of Vater
: code 300557
Carcinosarcoma of the cervix uteri
: code 213787
Carcinosarcoma of the corpus uteri
: code 213610
Cardiac anomalies-developmentaldelay-facial dysmorphism syndrome
: code 369891
Cardiac anomalies-heterotaxysyndrome
: code 137628
Cardiac conduction disease-dilated cardiomyopathy-brachydactylysyndrome
: code 168796
Cardiac diverticulum
: code 1686
Cardiac tumor of child
: code 875
Cardiocranial syndrome Pfeiffertype
: code 2872
Cardiodysrhythmic potassium-sensitive periodic paralysis
: code 37553
Cardiofaciocutaneous syndrome
: code 1340
Cardiogenic shock
: code 97292
Cardiogenital syndrome
: code 2229
Cardiomelic syndrome type 3
: code 1342
Cardiomyopathic lentiginosis
: code 500
Cardiomyopathy with hypotonia due to cytochrome C oxidasedeficiency
: code 70474
Cardiomyopathy with myopathydue to COX deficiency
: code 70474
Cardiomyopathy-cataract-hip spinedisease syndrome
: code 1345
Cardiomyopathy-hypotonia-lacticacidosis syndrome
: code 91130
Cardiomyopathy-renal anomaliessyndrome
: code 90022
Cardioskeletal myopathy with neutropenia and abnormalmitochondria
: code 111
Cardioskeletal myopathy-neutropenia syndrome
: code 111
Cardiospondylocarpofacialsyndrome
: code 3238
Cardiovascular Gaucher disease
: code 2072
Carey-Fineman-Ziter syndrome
: code 1358
Carmi syndrome
: code 79403
Carnevale syndrome
: code 293843
Carnevale-Hernndez-del Castillosyndrome
: code 2947
Carnevale-Krajewska-Fischettosyndrome
: code 293843
Carney complex
: code 1359
Carney complex variant
: code 319340
Carney complex-trismus-pseudocamptodactyly syndrome
: code 319340
Carney dyad
: code 97286
Carney syndrome
: code 1359
Carney triad
: code 139411
Carney-Stratakis dyad
: code 97286
Carney-Stratakis syndrome
: code 97286
Carnitine deficiency secondary to medium-chain acyl-CoAdehydrogenase deficiency
: code 42
Carnitine palmitoyl transferase 1Adeficiency
: code 156
Carnitine palmitoyl transferasedeficiency type 2 adult-onset form
: code 228302
Carnitine palmitoyl transferase deficiency type 2 hepatocardiomuscular form
: code 228305
Carnitine palmitoyl transferase deficiency type 2 lethal systemicform
: code 228308
Carnitine palmitoyl transferasedeficiency type 2 myopathic form
: code 228302
Carnitine palmitoyl transferasedeficiency type 2 neonatal form
: code 228308
Carnitine palmitoyl transferase deficiency type 2 severe infantileform
: code 228305
Carnitine palmitoyl transferase IAdeficiency
: code 156
Carnitine palmitoyl transferase IIdeficiency adult-onset form
: code 228302
Carnitine palmitoyl transferase II deficiency hepatocardiomuscularform
: code 228305
Carnitine palmitoyl transferase IIdeficiency lethal systemic form
: code 228308
Carnitine palmitoyl transferase IIdeficiency myopathic form
: code 228302
Carnitine palmitoyl transferase IIdeficiency neonatal form
: code 228308
Carnitine palmitoyl transferase IIdeficiency severe infantile form
: code 228305
Carnitine palmitoyltransferasedeficiency type 2
: code 157
Carnitine palmitoyltransferase IIdeficiency
: code 157
Carnitine transporter defect
: code 158
Carnitine uptake deficiency
: code 158
Carnitine-acylcarnitine translocasedeficiency
: code 159
Carnosinase deficiency
: code 1361
Carnosinemia
: code 1361
Caroli disease
: code 53035
Caroli syndrome
: code 480520
Carpenter syndrome
: code 65759
Carpenter-Waziri syndrome
: code 93973
Carpotarsal osteochondromatosis
: code 2767
Carrion disease
: code 64692
Cartilage-hair hypoplasia
: code 175
Cartilage-hair hypoplasia-like- skeletal dysplasia withouthypotrichosis syndrome
: code 175
Carvajal syndrome
: code 65282
CAS
: code 209908
CAS
: code 56425
Casamassima-Morton-Nancesyndrome
: code 94095
Caspase 8 deficiency syndrome
: code 275517
Cassia Stocco dos Santos syndrome
: code 1101
Castleman disease
: code 160
Castro Gago-Pombo-Novosyndrome
: code 2513
Cat-eye syndrome
: code 195
Cat-scratch disease
: code 50839
Catalase deficiency
: code 926
Cataract-aberrant oral frenula-growth delay syndrome
: code 1373
Cataract-alopecia-sclerodactylysyndrome
: code 1366
Cataract-ataxia-deafness syndrome
: code 1368
Cataract-congenital heart disease-neural tube defect syndrome
: code 314993
Cataract-deafness-hypogonadismsyndrome
: code 1383
Cataract-glaucoma syndrome
: code 162
Cataract-growth hormone
: code 436174
Cataract-hypertrichosis-intellectualdisability syndrome
: code 1375
Cataract-intellectual disability-analatresia-urinary defects syndrome
: code 1381
Cataract-intellectual disability-hypogonadism syndrome
: code 1387
Cataract-microcephaly-arthrogryposis-kyphosis syndrome
: code 1466
Cataract-microcephaly-failure tothrive-kyphoscoliosis syndrome
: code 1466
Cataract-microcornea syndrome
: code 1377
Cataract-microphthalmia- radiculomegaly-cardiac septaldefect syndrome
: code 2712
Cataract-nephropathy-encephalopathy syndrome
: code 1380
Cataracts-motor neuropathy-short stature-skeletal anomaliessyndrome
: code 100990
Catastrophic antiphospholipidsyndrome
: code 464343
Catastrophic APS
: code 464343
CATCH 22
: code 567
Catecholaminergic polymorphicventricular tachycardia
: code 3286
Catel-Hempel syndrome
: code 800
Catel-Manzke syndrome
: code 1388
Cathepsin D deficiency
: code 228337
Catlin marks
: code 60015
CATSHL syndrome
: code 85164
Caudal appendage-deafnesssyndrome
: code 1123
Caudal duplication
: code 1756
Caudal dysplasia
: code 3027
Caudal regression sequence
: code 3027
Causalgia
: code 99994
CAVC
: code 1329
CAVC-Fallot tetralogy syndrome
: code 99068
CAVC-left heart obstructionsyndrome
: code 99066
CAVC-ventricle hypoplasiasyndrome
: code 99067
Cavernous hemangiomas of face- supraumbilical midline raphesyndrome
: code 2124
Cavernous lymphangioma
: code 79489
Cavernous lymphatic malformation
: code 79489
Cavitary myiasis
: code 165958
Cayler cardiofacial syndrome
: code 567
Cayman ataxia
: code 94122
CBL syndrome
: code 363972
CblC defect
: code 79282
CblD defect
: code 79283
CblF defect
: code 79284
CblJ defects
: code 369955
CCA
: code 70567
CCA syndrome
: code 115
CCAM
: code 2444
CCAM type 1
: code 280832
CCAM type 2
: code 280840
CCAM type 3
: code 280847
CCDC115-CDG
: code 468684
CCDF
: code 98972
CCFDN
: code 48431
CCGE syndrome
: code 2008
CCHF
: code 99827
CCHS
: code 661
CCMCO
: code 289499
CCRCC
: code 319276
CCSF
: code 2505
CCSK
: code 457246
CCV
: code 280779
CD4+/CD56+ hematodermicneoplasm
: code 86870
CD16 deficiency
: code 437552
CD27 deficiency
: code 238505
CD30 positive anaplastic large celllymphoma
: code 98841
CDA due to KLF1 mutation
: code 293825
CDA I
: code 98869
CDA II
: code 98873
CDA III
: code 98870
CDA IV
: code 293825
CDA type 1
: code 98869
CDA type 2
: code 98873
CDA type 3
: code 98870
CDA type 4
: code 293825
CDA type I
: code 98869
CDA type II
: code 98873
CDA type III
: code 98870
CDA type IV
: code 293825
CDAGS syndrome
: code 85199
CDAN4
: code 293825
CDC
: code 247203
CDFE syndrome
: code 163681
CDFES
: code 163681
CDG1A
: code 79318
CDG1B
: code 79319
CDG1C
: code 79320
CDG1D
: code 79321
CDG1E
: code 79322
CDG1F
: code 79323
CDG1G
: code 79324
CDG1H
: code 79325
CDG1I
: code 79326
CDG1J
: code 86309
CDG1K
: code 79327
CDG1L
: code 79328
CDG1M
: code 91131
CDG1N
: code 244310
CDG1O
: code 263494
CDG1P
: code 280071
CDG1Q
: code 324737
CDG1R
: code 300536
CDG1S
: code 324422
CDG1T
: code 319646
CDG1U
: code 329178
CDG1W
: code 370921
CDG1X
: code 370924
CDG1Y
: code 370927
CDG1Z
: code 448010
CDG2A
: code 79329
CDG2B
: code 79330
CDG2C
: code 99843
CDG2D
: code 79332
CDG2E
: code 79333
CDG2F
: code 238459
CDG2G
: code 263508
CDG2H
: code 95428
CDG2I
: code 263487
CDG2J
: code 263501
CDG2K
: code 314667
CDG2L
: code 464443
CDG2M
: code 356961
CDG2N
: code 468699
CDG2O
: code 468684
CDG2P
: code 466703
CDG syndrome type Ia
: code 79318
CDG syndrome type Ib
: code 79319
CDG syndrome type Ic
: code 79320
CDG syndrome type Id
: code 79321
CDG syndrome type Ie
: code 79322
CDG syndrome type If
: code 79323
CDG syndrome type Ig
: code 79324
CDG syndrome type Ih
: code 79325
CDG syndrome type Ii
: code 79326
CDG syndrome type IIa
: code 79329
CDG syndrome type IIb
: code 79330
CDG syndrome type IIc
: code 99843
CDG syndrome type IId
: code 79332
CDG syndrome type IIe
: code 79333
CDG syndrome type IIf
: code 238459
CDG syndrome type IIg
: code 263508
CDG syndrome type IIh
: code 95428
CDG syndrome type IIi
: code 263487
CDG syndrome type IIj
: code 263501
CDG syndrome type IIk
: code 314667
CDG syndrome type IIL
: code 464443
CDG syndrome type IIm
: code 356961
CDG syndrome type IIn
: code 468699
CDG syndrome type IIo
: code 468684
CDG syndrome type IIp
: code 466703
CDG syndrome type Ij
: code 86309
CDG syndrome type Ik
: code 79327
CDG syndrome type IL
: code 79328
CDG syndrome type Im
: code 91131
CDG syndrome type In
: code 244310
CDG syndrome type Io
: code 263494
CDG syndrome type Ip
: code 280071
CDG syndrome type Iq
: code 324737
CDG syndrome type Ir
: code 300536
CDG syndrome type Is
: code 324422
CDG syndrome type It
: code 319646
CDG syndrome type Iu
: code 329178
CDG syndrome type Iw
: code 370921
CDG syndrome type Ix
: code 370924
CDG syndrome type Iy
: code 370927
CDG syndrome type Iz
: code 448010
CDG-Ia
: code 79318
CDG-Ib
: code 79319
CDG-Ic
: code 79320
CDG-Id
: code 79321
CDG-Ie
: code 79322
CDG-If
: code 79323
CDG-Ig
: code 79324
CDG-Ih
: code 79325
CDG-Ii
: code 79326
CDG-IIa
: code 79329
CDG-IIb
: code 79330
CDG-IIc
: code 99843
CDG-IId
: code 79332
CDG-IIe
: code 79333
CDG-IIf
: code 238459
CDG-IIg
: code 263508
CDG-IIh
: code 95428
CDG-IIi
: code 263487
CDG-IIj
: code 263501
CDG-IIk
: code 314667
CDG-IIL
: code 464443
CDG-IIm
: code 356961
CDG-IIn
: code 468699
CDG-IIo
: code 468684
CDG-IIp
: code 466703
CDG-Ij
: code 86309
CDG-Ik
: code 79327
CDG-IL
: code 79328
CDG-Im
: code 91131
CDG-In
: code 244310
CDG-Io
: code 263494
CDG-Ip
: code 280071
CDG-Iq
: code 324737
CDG-Ir
: code 300536
CDG-Is
: code 324422
CDG-It
: code 319646
CDG-Iu
: code 329178
CDG-Iw
: code 370921
CDG-Ix
: code 370924
CDG-Iy
: code 370927
CDG-Iz
: code 448010
CDH
: code 2140
CDHS
: code 1529
CDI
: code 178029
CDKL5 deficiency
: code 505652
CDKL5 deficiency disorder
: code 505652
CDKL5 disorder
: code 505652
CDKL5-related epilepticencephalopathy
: code 505652
CDO syndrome
: code 3194
CDPD
: code 1490
CDPX2
: code 35173
CDPXD
: code 35173
CDSP
: code 158
CEAS
: code 468641
CEC
: code 1459
Cecato de Lima-Pinheiro syndrome
: code 2718
CED
: code 1515
CEDNIK syndrome
: code 66631
CEDS
: code 275517
Celiac artery compressionsyndrome
: code 293208
Celiac disease-epilepsy-cerebralcalcification syndrome
: code 1459
Celosomia
: code 93942
Cenani syndactyly
: code 3258
Cenani-Lenz syndactyly
: code 3258
Cenani-Lenz syndrome
: code 3258
Central areolar choroidal dystrophy
: code 75377
Central areolar choroidal sclerosis
: code 75377
Central areolar pigment epithelialdystrophy
: code 75327
Central bilateral macrogyria
: code 2431
Central cloudy corneal dystrophy ofFranois
: code 98972
Central cloudy dystrophy ofFranois
: code 98972
Central congenital hypoventilationsyndrome
: code 661
Central core disease
: code 597
Central diabetes insipidus
: code 178029
Central discoid corneal dystrophy
: code 98967
Central hypothyroidism due to TRHreceptor deficiency
: code 99832
Central nervous system calcification-deafness-tubularacidosis-anemia syndrome
: code 3240
Central neurocytoma
: code 73256
Central neurofibromatosis
: code 637
Central polydactyly
: code 295004
Central precocious puberty
: code 759
Central retinal pigment epithelialdystrophy
: code 75327
Central retinal vein occlusion
: code 411527
Central serous chorioretinopathy
: code 443079
Centrifugal lipodystrophy
: code 90156
Centripetal dystrophicepidermolysis bullosa
: code 89841
Centripetal recessive dystrophicepidermolysis bullosa
: code 89841
Centripetalis recessive dystrophicepidermolysis bullosa
: code 89841
Centronuclear myopathy type 4
: code 319160
Centrotemporal epilepsy
: code 1945
CEP
: code 79277
Cephalothoracic lipodystrophy
: code 2398
CEPT deficiency
: code 79506
Cerebellar ataxia with azoospermiaand intellectual disability
: code 276183
Cerebellar ataxia with bilateralvestibulopathy syndrome
: code 504476
Cerebellar ataxia with neuropathy and bilateral vestibular areflexiasyndrome
: code 504476
Cerebellar ataxia Cayman type
: code 94122
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineuralhearing loss syndrome
: code 1171
Cerebellar ataxia-ectodermaldysplasia syndrome
: code 1174
Cerebellar ataxia-hypogonadismsyndrome
: code 1173
Cerebellar ataxia-intellectual disability-dysequilibrium syndromesyndrome
: code 1766
Cerebellar ataxia-intellectual disability-optic atrophy-skinabnormalities syndrome
: code 83472
Cerebellar atrophy with progressivemicrocephaly
: code 97249
Cerebellar hypoplasia-tapetoretinaldegeneration syndrome
: code 2246
Cerebellar liponeurocytoma
: code 251931
Cerebellar syndrome-pigmentarymaculopathy syndrome
: code 94147
Cerebellar vermis hypoplasia- oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
: code 1454
Cerebellar-facial-dental syndrome
: code 444072
Cerebellofaciodental syndrome
: code 444072
Cerebellooculorenal syndrome
: code 2318
Cerebelloparenchymal disorder IV
: code 475
Cerebellotrigeminal-dermal
: code 1532
Cerebral arteriovenousmalformation
: code 46724
Cerebral autosomal dominant arteriopathy with subcorticalinfarcts and leukoencephalopathy
: code 136
Cerebral autosomal recessivearteriopathy with subcortical infarcts and leukoencephalopathy
: code 199354
Cerebral dysgenesis-neuropathy- ichthyosis-palmoplantarkeratoderma syndrome
: code 66631
Cerebral gigantism
: code 821
Cerebral gigantism Nevo type
: code 1900
Cerebral gigantism-jaw cystssyndrome
: code 2081
Cerebral juvenile and adult form ofGaucher disease
: code 77261
Cerebral proliferative glomeruloidvasculopathy
: code 221126
Cerebral sinovenous thrombosis
: code 329217
Cerebral visual impairment
: code 447788
Cerebro-cutaneous syndrome withiron overload
: code 397922
Cerebro-oculo-facial-lymphaticsyndrome
: code 2995
Cerebrocostomandibular syndrome
: code 1393
Cerebrofacial arteriovenousmetameric syndrome type 1
: code 141194
Cerebrofacial arteriovenousmetameric syndrome type 2
: code 53719
Cerebrofacial arteriovenousmetameric syndrome type 3
: code 141199
Cerebrofacioarticular syndrome
: code 314679
Cerebrofaciothoracic dysplasia
: code 1394
Cerebrohepatorenal syndrome
: code 912
Cerebromedullospinaldisconnection
: code 2406
Cerebrooculodentoauriculoskeletalsyndrome
: code 1458
Cerebrooculofacioskeletalsyndrome
: code 1466
Cerebrooculonasal syndrome
: code 66625
Cerebrorenal syndrome Perez type
: code 505242
Cerebrorenodigital syndrome
: code 1396
Cerebroretinal microangiopathywith calcifications and cysts
: code 313838
Cerebroretinal vasculopathy
: code 247691
Cerebrotendinous xanthomatosis
: code 909
Cerebrovascular ferrocalcinosis
: code 1980
Cernunnos deficiency
: code 169079
Cernunnos XLFD
: code 169079
Cernunnos-XLF deficiency
: code 169079
Cerulean cataract
: code 98989
Cervical adenocarcinoma
: code 213772
Cervical adenoid basal carcinoma
: code 213828
Cervical adenoid cystic carcinoma
: code 213823
Cervical adenosarcoma
: code 213792
Cervical aortic arch
: code 99079
Cervical carcinosarcoma
: code 213787
Cervical dermoid cyst
: code 141046
Cervical germ cell cancer
: code 213837
Cervical hypertrichosis-peripheralneuropathy syndrome
: code 2218
Cervical leiomyosarcoma
: code 213807
Cervical malignant germ cell tumor
: code 213837
Cervical malignant Mllerian mixedtumor
: code 213787
Cervical malignant peripheralneuroectodermal tumor
: code 213812
Cervical papillary carcinoma
: code 213817
Cervical peripheralneuroectodermal cancer
: code 213812
Cervical rhabdomyosarcoma
: code 213802
Cervical spina bifida aperta
: code 268392
Cervical spina bifida cystica
: code 268762
Cervical squamous cell carcinoma
: code 213767
Cervicofacial enchondroma
: code 141067
Cervicofacial fibrochondroma
: code 141067
Cervicooculoacoustic syndrome
: code 3456
Cervicothoracic spina bifida aperta
: code 268397
Cervicothoracic spina bifida cystica
: code 268766
CES
: code 195
CEVD
: code 231573
CF
: code 586
CFA
: code 2032
CFC syndrome
: code 1340
CFND
: code 1520
CFNS
: code 1520
CFTDM
: code 2020
CGD
: code 379
CGHT
: code 2026
ChAc
: code 2388
CHAC syndrome
: code 307766
CHACS
: code 307766
Chagas disease
: code 3386
CHAI
: code 436159
CHAND syndrome
: code 1071
Chandler syndrome
: code 98979
CHANDS
: code 1071
Chang-Davidson-Carlson syndrome
: code 2235
Channelopathy-associated CIP
: code 88642
Channelopathy-associatedcongenital insensitivity to pain
: code 88642
Chaotic atrial tachycardia
: code 3282
Chapare hemorrhagic fever
: code 319244
Char syndrome
: code 46627
Char-Douglas-Dungan syndrome
: code 1964
Charcot disease
: code 803
Charcot-Marie-Tooth disease type1A
: code 101081
Charcot-Marie-Tooth disease type1B
: code 101082
Charcot-Marie-Tooth disease type1C
: code 101083
Charcot-Marie-Tooth disease type1D
: code 101084
Charcot-Marie-Tooth disease type1E
: code 90658
Charcot-Marie-Tooth disease type1F
: code 101085
Charcot-Marie-Tooth disease type2B1
: code 98856
Charcot-Marie-Tooth disease type2B2
: code 101101
Charcot-Marie-Tooth disease type2B5
: code 228374
Charcot-Marie-Tooth disease type2H
: code 101102
Charcot-Marie-Tooth disease type2P
: code 300319
Charcot-Marie-Tooth disease type2R
: code 397968
Charcot-Marie-Tooth disease type2S
: code 443073
Charcot-Marie-Tooth disease type2T
: code 495274
Charcot-Marie-Tooth disease type 3
: code 64748
Charcot-Marie-Tooth disease type4A
: code 99948
Charcot-Marie-Tooth disease type4B1
: code 99955
Charcot-Marie-Tooth disease type4B2
: code 99956
Charcot-Marie-Tooth disease type4B3
: code 363981
Charcot-Marie-Tooth disease type4C
: code 99949
Charcot-Marie-Tooth disease type4D
: code 99950
Charcot-Marie-Tooth disease type4E
: code 99951
Charcot-Marie-Tooth disease type4F
: code 99952
Charcot-Marie-Tooth disease type4G
: code 99953
Charcot-Marie-Tooth disease type4H
: code 99954
Charcot-Marie-Tooth disease type4J
: code 139515
Charcot-Marie-Tooth disease type4K
: code 391351
Charcot-Marie-Tooth disease type 6
: code 90120
Charcot-Marie-Tooth disease withfocally folded myelin
: code 363981
Charcot-Marie-Tooth disease-deafness syndrome
: code 90658
Charcot-Marie-Tooth disease- deafness-intellectual disabilitysyndrome
: code 90103
Charcot-Marie-Tooth disease-nephropathy syndrome
: code 93114
Charcot-Marie-Tooth disease-pyramidal features syndrome
: code 64751
CHARGE association
: code 138
CHARGE syndrome
: code 138
CHARGE-like syndrome
: code 921
Charlevoix disease
: code 1496
Charlie M syndrome
: code 1406
CHC type 2
: code 168577
CHED1
: code 98975
CHED2
: code 293603
CHEDI
: code 98975
Chdiak-Higashi disease
: code 167
Chdiak-Higashi syndrome
: code 167
Chdiak-Higashi-like syndrome
: code 381
Chdiak-Higashi-Steinbrinksyndrome
: code 167
CHEDII
: code 293603
Cheilitis glandularis
: code 1221
Cheirospondyloenchondromatosis
: code 99647
Cheney syndrome
: code 955
Cherry-red spot-myoclonussyndrome
: code 812
Cherubism
: code 184
Cherubism-gingival fibromatosis-intellectual disability syndrome
: code 3019
CHHS
: code 672
Chiari 4 malformation
: code 1398
Chiari IV malformation
: code 1398
Chiari malformation type 1
: code 268882
Chiari malformation type 2
: code 1136
Chiari malformation type I
: code 268882
Chiari malformation type II
: code 1136
Chikungunya
: code 324625
Chilblain lupus
: code 90280
CHILD nevus
: code 139
CHILD syndrome
: code 139
Childhood absence epilepsy
: code 64280
Childhood AIS
: code 439175
Childhood apraxia of speech
: code 209908
Childhood arterial ischemic stroke
: code 439175
Childhood ataxia with diffuse central nervous systemhypomyelination
: code 135
Childhood disintegrative disorder
: code 168782
Childhood encephalopathy due to thiamine pyrophosphokinasedeficiency
: code 293955
Childhood myasthenia gravis
: code 391497
Childhood-onset autosomal recessive myopathy with externalophthalmoplegia
: code 363677
Childhood-onset autosomal recessive slowly progressivespinocerebellar ataxia
: code 284324
Childhood-onset basal gangliadegeneration syndrome
: code 497906
Childhood-onset benign choreawith striatal involvement
: code 494541
Childhood-onset collagenousgastritis
: code 487809
Childhood-onset generalizeddystonia-optic atrophy syndrome
: code 508093
Childhood-onset HCC
: code 33402
Childhood-onset hepatocellularcarcinoma
: code 33402
Childhood-onset hypophosphatasia
: code 247667
Childhood-onset motor and cognitive regression syndrome withextrapyramidal movement disorder
: code 500180
Childhood-onset nemalinemyopathy
: code 171439
Childhood-onsetphosphoethanolaminuria
: code 247667
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
: code 466921
Childhood-onset Rathburn disease
: code 247667
Childhood-onset spastic paraparesis-distal muscle wastingsyndrome
: code 101000
Childhood-onset spasticity withhyperglycinemia
: code 401866
Childhood-onset spasticity withvariant non-ketotic hyperglycinemia
: code 401866
CHIME syndrome
: code 3474
Chitayat-Meunier-Hodgkinsonsyndrome
: code 2888
Chitty-Hall-Baraitser syndrome
: code 3218
Chloride shunt syndrome
: code 757
Chloroma
: code 86850
CHM
: code 180
CHM-hypopituitarism syndrome
: code 1434
Choanal atresia
: code 137914
Choanal atresia bilateral
: code 137920
Choanal atresia unilateral
: code 137917
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphismsyndrome
: code 1200
Cholangiocarcinoma
: code 70567
Choledochal cyst
: code 480501
Cholelithiasis with ABCB4 genemutation
: code 69663
Cholera
: code 173
Cholestasis with delta(4)-3-
: code 79303
Cholestasis-lymphedema syndrome
: code 1414
Cholestasis-pigmentaryretinopathy-cleft palate syndrome
: code 1415
Cholestatic jaundice-renal tubularinsufficiency syndrome
: code 2697
Cholesterol ester storage disease
: code 75234
Cholesterol-ester transfer proteindeficiency
: code 79506
Cholesteryl ester storage disease
: code 75234
Chondrodysplasia punctata Sheffield type
: code 79344
Chondrodysplasia punctata tibial-metacarpal type
: code 79346
Chondrodysplasia punctata Toriellotype
: code 79347
Chondrodysplasia with congenitaljoint dislocations CHST3 type
: code 263463
Chondrodysplasia with jointdislocations gPAPP type
: code 280586
Chondrodysplasia with snail-likepelvis
: code 3144
Chondrodysplasia Blomstrand type
: code 50945
Chondrodysplasia Grebe type
: code 2098
Chondrodysplasia-dentinogenesisimperfecta-joint laxity syndrome
: code 166272
Chondrodysplasia-disorder of sexdevelopment syndrome
: code 1422
Chondrodysplasia-pseudohermaphroditism syndrome
: code 1422
Chondrodystrophia calcificanscongenita
: code 35173
Chondroectodermal dysplasia
: code 289
Chondroectodermal dysplasia withnight blindness
: code 319195
Chondromyxoid fibroma
: code 404507
Chondrosarcoma
: code 55880
CHOPS syndrome
: code 444077
Chordoid glioma
: code 251674
Chordoma
: code 178
Chorea-acanthocytosis
: code 2388
Choreoacanthocytosis
: code 2388
Choreoathetosis-hypothyroidism- neonatal respiratory distresssyndrome
: code 209905
Choriocarcinoma of the centralnervous system
: code 252015
Choroid plexus carcinoma
: code 251899
Choroid plexus papilloma
: code 2807
Choroidal atrophy-alopeciasyndrome
: code 1433
Choroidal melanoma
: code 39044
Choroideremia
: code 180
Choroideremia-deafness-obesity
: code 1435
Choroideremia-hypopituitarismsyndrome
: code 1434
CHP
: code 94087
CHR-RPE
: code 440727
Christ-Siemens-Touraine syndrome
: code 181
Christian syndrome
: code 1436
Christianson syndrome
: code 85278
Christianson-Fourie syndrome
: code 1808
Christmas disease
: code 98879
Chromoblastomycosis
: code 182
Chromomycosis
: code 182
Chromophobe renal celladenocarcinoma
: code 319303
Chromophobe renal cell carcinoma
: code 319303
Chromosome 18 duplication
: code 3380
Chromosome 21 en anneau
: code 1445
Chronic actinic dermatitis
: code 330064
Chronic adult hydrocephalus
: code 314928
Chronic and localized Langerhanscell histiocytosis
: code 99871
Chronic arachnoiditis
: code 137817
Chronic ataxic neuropathy- ophthalmoplegia-IgM paraprotein- cold agglutinins-disialosylantibodies syndrome
: code 71279
Chronic atrial and intestinaldysrhythmia syndrome
: code 435988
Chronic atrial dysrhythmia-intestinal motility disorder
: code 435988
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevatedtemperature syndrome
: code 325004
Chronic autoimmune hepatitis
: code 2137
Chronic berylliosis
: code 133
Chronic beryllium disease
: code 133
Chronic beryllium lung disease
: code 133
Chronic cold agglutinin disease
: code 56425
Chronic dacryoadenitis andsialadenitis
: code 79078
Chronic diarrhea due toglucoamylase deficiency
: code 103907
Chronic diarrhea due to guanylatecyclase 2C overactivity
: code 314373
Chronic diarrhea with hereditarysensory and autonomic neuropathy
: code 397606
Chronic diarrhea with HSAN
: code 397606
Chronic diarrhea with villousatrophy
: code 1670
Chronic EBV infection syndrome
: code 2566
Chronic endophthalmitis
: code 279891
Chronic enteropathy associatedwith SLCO2A1 gene
: code 468641
Chronic eosinophilic leukemia
: code 168940
Chronic eosinophilic pneumonia
: code 2902
Chronic Epstein-Barr virus infectionsyndrome
: code 2566
Chronic graft versus host disease
: code 99921
Chronic granulocytic leukemia
: code 521
Chronic granulomatous disease
: code 379
Chronic hiccup
: code 396
Chronic infantile neurologicalcutaneous articular syndrome
: code 1451
Chronic infantile spinal muscularatrophy
: code 83418
Chronic inflammatorydemyelinating polyneuropathy
: code 2932
Chronic inflammatory demyelinatingpolyradiculoneuropathy
: code 2932
Chronic intestinal failure
: code 294422
Chronic intestinalpseudoobstruction
: code 2978
Chronic lymphocytic inflammation with pontine perivascularenhancement responsive to steroids
: code 284448
Chronic mucocutaneous candidiasis
: code 1334
Chronic multifocal Langerhans cellhistiocytosis
: code 99873
Chronic myelogenous leukemia
: code 521
Chronic myeloid leukemia
: code 521
Chronic myelomonocytic leukemia
: code 98823
Chronic myeloproliferative disease unclassifiable
: code 86830
Chronic neuronopathic Gaucherdisease
: code 77261
Chronic neutrophilic leukemia
: code 86829
Chronic nonbacterial osteomyelitis/Chronic recurrentmultifocal osteomyelitis
: code 324964
Chronic obstetric brachial plexusinjury
: code 439202
Chronic obstetric brachial plexuspalsy
: code 439202
Chronic pain requiring intraspinalanalgesia
: code 95426
Chronic photosensitivity dermatitis
: code 330064
Chronic pneumonitis of infancy
: code 91359
Chronic recurrent isolated opticneuritis
: code 499085
Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
: code 77297
Chronic relapsing inflammatoryoptic neuropathy
: code 499085
Chronic respiratory distress withsurfactant metabolism deficiency
: code 217566
Chronic sensory ataxic neuropathywith anti-dyalosyl IgM antibodies
: code 71279
Chronic septic granulomatosis
: code 379
Chronic spinal muscular atrophy
: code 83418
Chronic thromboembolicpulmonary hypertension
: code 70591
Chronic traumatic encephalopathy
: code 97353
Chronic urticaria with gammopathy
: code 37748
Chronic urticaria withmacroglobulinemia
: code 37748
CHST3-related skeletal dysplasia
: code 263463
Chudley-Lowry syndrome
: code 93971
Chudley-Lowry-Hoar syndrome
: code 93971
Chudley-McCullough syndrome
: code 314597
Chudley-Rozdilsky syndrome
: code 3068
Churg-Strauss syndrome
: code 183
Chuvash erythrocytosis
: code 238557
Chuvash polycythemia
: code 238557
Chylomicron retention disease
: code 71
Chylous ascites
: code 1160
Cicatricial pemphigoid
: code 46486
CID due to DOCK8 deficiency
: code 217390
CID due to GINS1 deficiency
: code 505227
CID due to IKAROS deficiency
: code 317473
CID due to LRBA deficiency
: code 445018
CID due to MAGT1 deficiency
: code 317476
CID due to Moesin deficiency
: code 504530
CID due to ORAI1 deficiency
: code 317428
CID due to partial RAG1 deficiency
: code 231154
CID due to PGM3 deficiency
: code 443811
CID due to RAG 1/2 deficiency
: code 157949
CID due to STIM1 deficiency
: code 317430
CID due to STK4 deficiency
: code 314689
CID due to TFRC deficiency
: code 476113
CID with expansion of gamma deltaT cells
: code 231154
CID-MIA/early-onset IBD
: code 436252
CIDEC-related familial partiallipodystrophy
: code 435651
CIDEC-related FPLD
: code 435651
CIDP
: code 2932
CIE
: code 79394
CIF
: code 294422
Ciliary dysentery
: code 1223
Cilliers-Beighton syndrome
: code 2114
CINCA syndrome
: code 1451
CIP with hyperhidrosis andgastrointestinal dysfunction
: code 391397
CIP-anhidrosis syndrome
: code 642
CIPO
: code 2978
Circumferential skin creases Kunzetype
: code 2505
Circumscribed palmoplantarhypokeratosis
: code 69744
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
: code 309854
Cirrhotic cardiomyopathy
: code 57777
CISS
: code 157820
Citrullinemia type 1
: code 247525
Citrullinemia type 2
: code 247585
Citrullinemia type I
: code 247525
Citrullinemia type II
: code 247585
CK syndrome
: code 251383
CL/P-cor triatriatum sinistersyndrome
: code 508476
CLAH
: code 90790
CLAM
: code 97249
CLAPO syndrome
: code 168984
Clarkson disease
: code 188
Class I G6PD deficiency
: code 466026
Class I glucose-6-phosphatedehydrogenase deficiency
: code 466026
Classic 21-OHD CAH
: code 90794
Classic 21-OHD CAH salt wastingform
: code 315306
Classic 21-OHD CAH simplevirilizing form
: code 315311
Classic Addison’s disease
: code 85138
Classic appendiceal neuroendocrinetumor
: code 329977
Classic appendix neuroendocrinetumor
: code 329977
Classic Bartter syndrome
: code 93605
Classic BCKD deficiency
: code 268145
Classic branched-chain alpha-ketoacid dehydrogenase deficiency
: code 268145
Classic branched-chain ketoaciduria
: code 268145
Classic citrullinemia
: code 247525
Classic citrullinemia type 1
: code 247546
Classic citrullinemia type I
: code 247546
Classic CLAH
: code 325524
Classic congenital adrenal hyperplasia due to 21-hydroxylasedeficiency
: code 90794
Classic congenital adrenal hyperplasia due to 21-hydroxylasedeficiency salt wasting form
: code 315306
Classic congenital adrenal hyperplasia due to 21-hydroxylasedeficiency simple virilizing form
: code 315311
Classic congenital lipoid adrenalhyperplasia due to STAR deficency
: code 325524
Classic exstrophy of the bladder
: code 93930
Classic galactosemia
: code 79239
Classic GCD
: code 98962
Classic glycine encephalopathy
: code 289857
Classic granular corneal dystrophy
: code 98962
Classic hairy cell leukemia
: code 58017
Classic Hodgkin disease
: code 391
Classic Hodgkin lymphoma
: code 391
Classic Hodgkin lymphoma lymphocyte-depleted type
: code 98846
Classic Hodgkin lymphoma lymphocyte-rich type
: code 98845
Classic Hodgkin lymphoma mixedcellularity type
: code 98844
Classic Hodgkin lymphoma nodularsclerosis type
: code 98843
Classic homocystinuria
: code 394
Classic Joubert syndrome
: code 475
Classic lamellar ichthyosis
: code 313
Classic lattice corneal dystrophy
: code 98964
Classic maple syrup urine disease
: code 268145
Classic mast cell leukemia
: code 158796
Classic medulloblastoma
: code 251867
Classic MmD
: code 324604
Classic MSUD
: code 268145
Classic multiminicore disease
: code 324604
Classic multiminicore myopathy
: code 324604
Classic mycosis fungoides
: code 2584
Classic neuroendocrine tumor ofappendix
: code 329977
Classic pantothenate kinase-associated neurodegeneration
: code 216866
Classic paraneoplastic limbicencephalitis
: code 163898
Classic paraneoplastic limbic encephalitis with or withoutintracellular antigens
: code 163898
Classic Pfeiffer syndrome
: code 93258
Classic phenylketonuria
: code 79254
Classic PKU
: code 79254
Classic PMD
: code 280219
Classic progressive supranuclearpalsy syndrome
: code 240071
Classic PSP syndrome
: code 240071
Classic Refsum disease
: code 773
Classic RTA
: code 18
Classic SPS
: code 443192
Classic stiff person syndrome
: code 443192
Classic xanthinuria
: code 3467
Clayton Smith-Donnai syndrome
: code 2272
CLCN4-related X-linked intellectualdisability syndrome
: code 485350
Clear cell adenocarcinoma of theovary
: code 398971
Clear cell papillary renal cellcarcinoma
: code 404511
Clear cell renal carcinoma
: code 319276
Clear cell renal cell adenocarcinoma
: code 319276
Clear cell renal cell carcinoma
: code 319276
Clear cell sarcoma of kidney
: code 457246
Clear cell sarcoma of the tendonsand aponeuroses
: code 97338
Cleft hard palate
: code 101023
Cleft lip and alveolus
: code 141291
Cleft lip and palate
: code 199306
Cleft lip and palate-craniofacial dysmorphism-congenital heartdefect-hearing loss syndrome
: code 508476
Cleft lip-alveolus-palate syndrome
: code 199306
Cleft lip-cone rod dystrophysyndrome
: code 1995
Cleft lip-limb and heartmalformations syndrome
: code 3429
Cleft lip-progressive retinopathysyndrome
: code 1995
Cleft lip-retinopathy syndrome
: code 1995
Cleft lip/palate
: code 199306
Cleft lip/palate with mucous cystsof lower lip
: code 888
Cleft lip/palate-abnormal thumbs-microcephaly syndrome
: code 2319
Cleft lip/palate-cor triatriatumsinister syndrome
: code 508476
Cleft lip/palate-deafness-sacrallipoma syndrome
: code 2003
Cleft lip/palate-ectodermaldysplasia syndrome
: code 3253
Cleft lip/palate-ectrodactylysyndrome
: code 1896
Cleft lip/palate-facial eye heartand intestinal anomalies syndrome
: code 2328
Cleft lip/palate-intestinalmalrotation-cardiopathy syndrome
: code 2001
Cleft lip/palate-syndactyly-pili tortisyndrome
: code 3253
Cleft mitral valve
: code 95465
Cleft nose
: code 141242
Cleft palate-cardiac defect-genitalanomalies-ectrodactyly syndrome
: code 2008
Cleft palate-coloboma-deafnesssyndrome
: code 921
Cleft palate-large ears-small headsyndrome
: code 2013
Cleft palate-lateral synechiasyndrome
: code 2016
Cleft palate-Potter sequence- congenital heart anomalies- mesoaxial polydactyly-multiplemalformations syndrome
: code 2167
Cleft palate-short stature-vertebralanomalies syndrome
: code 2015
Cleft palate-stapes fixation-oligodontia syndrome
: code 2010
Cleft soft palate
: code 99772
Cleft velum
: code 99772
Cleft velum palatinum
: code 99772
Clefting-ectropion-conical teethsyndrome
: code 1997
Cleidocranial dysostosis
: code 1452
Cleidocranial dysplasia
: code 1452
Cleidocranial dysplasia-
: code 3472
Cleidorhizomelic syndrome
: code 1453
CLIPPERS
: code 284448
CLN1 disease
: code 228329
CLN2 disease
: code 228349
CLN3 disease
: code 228346
CLN4A disease
: code 228340
CLN4B disease
: code 228343
CLN5 disease
: code 228360
CLN6 disease
: code 228363
CLN7 disease
: code 228366
CLN8 disease
: code 228354
CLN8 disease Northern epilepsyvariant
: code 1947
CLN9 disease
: code 228357
CLN10 disease
: code 228337
CLN11 disease
: code 314629
CLN12 disease
: code 314632
CLN13 disease
: code 352709
Cloacal exstrophy
: code 93929
Clonal hypereosinophilic syndrome
: code 314950
Closed iniencephaly
: code 268366
Clouston syndrome
: code 189
Cloverleaf skull-asphyxiatingthoracic dysplasia syndrome
: code 100978
Cloverleaf skull-micromelic bonedysplasia syndrome
: code 93274
Cloverleaf skull-multiple congenitalanomalies syndrome
: code 93267
CLOVES syndrome
: code 140944
CLP1-related pontocerebellarhypoplasia
: code 411493
CLPED1
: code 3253
CLS
: code 192
CLWM
: code 85136
CM-AVM
: code 137667
CMAMMA
: code 289504
CMC
: code 1334
CMD1A
: code 258
CMD1B
: code 98893
CMD1C
: code 370953
CMD with cerebellar involvement
: code 370959
CMD with intellectual disability
: code 370968
CMD with intellectual disability andsevere epilepsy
: code 329178
CMD without intellectual disability
: code 370980
CMD-CRB
: code 370959
CMD-MR
: code 370968
CMD-no MR
: code 370980
CMDH
: code 371007
CML
: code 521
CMML
: code 98823
CMMR-D syndrome
: code 252202
CMO I
: code 99763
CMO II
: code 99763
CMP-sialic acid transporterdeficiency
: code 238459
CMPD-U
: code 86830
CMRD
: code 71
CMS
: code 590
CMT1A
: code 101081
CMT1B
: code 101082
CMT1C
: code 101083
CMT1D
: code 101084
CMT1E
: code 90658
CMT1F
: code 101085
CMT1X
: code 101075
CMT2 due to DGAT2 mutation
: code 487814
CMT2 due to KIF5A mutation
: code 324611
CMT2 due to TFG mutation
: code 435819
CMT2 due to VCP mutation
: code 435387
CMT2 with giant axons
: code 401964
CMT2A1
: code 99946
CMT2A2
: code 99947
CMT2B
: code 99936
CMT2C
: code 99937
CMT2D
: code 99938
CMT2E
: code 99939
CMT2F
: code 99940
CMT2G
: code 99941
CMT2H
: code 101102
CMT2I
: code 99942
CMT2J
: code 99943
CMT2K
: code 99944
CMT2L
: code 99945
CMT2M
: code 228179
CMT2N
: code 228174
CMT2O
: code 284232
CMT2P
: code 300319
CMT2Q
: code 329258
CMT2R
: code 397968
CMT2S
: code 443073
CMT2T
: code 495274
CMT2U
: code 397735
CMT2V
: code 447964
CMT2W
: code 488333
CMT2X
: code 466775
CMT2Y
: code 435387
CMT2Z
: code 466768
CMT3X
: code 101077
CMT4A
: code 99948
CMT4B1
: code 99955
CMT4B2
: code 99956
CMT4B3
: code 363981
CMT4C
: code 99949
CMT4D
: code 99950
CMT4E
: code 99951
CMT4F
: code 99952
CMT4G
: code 99953
CMT4H
: code 99954
CMT4J
: code 139515
CMT4K
: code 391351
CMT4X
: code 101078
CMT5X
: code 99014
CMT6
: code 90120
CMT6X
: code 352675
CMTC
: code 1556
CMTDIA
: code 100043
CMTDIB
: code 100044
CMTDIC
: code 100045
CMTDID
: code 100046
CMTDIE
: code 93114
CMTDIF
: code 352670
CMTX1
: code 101075
CMTX2
: code 101076
CMTX3
: code 101077
CMTX4
: code 101078
CMTX5
: code 99014
CMTX6
: code 352675
CMUSE
: code 468635
CMV disease in patients with impaired cell mediated immunitydeemed at risk
: code 137698
CNM4
: code 319160
CNO/CRMO
: code 324964
CO-induced parkinsonism
: code 306686
COACH syndrome
: code 1454
Coarctation of the abdominal aorta
: code 1456
COASY protein-associatedneurodegeneration
: code 397725
Coats disease
: code 190
Coats plus syndrome
: code 313838
Cobalamin C defect
: code 79282
Cobalamin D defect
: code 79283
Cobalamin F defect
: code 79284
Cobalamin J defect
: code 369955
Cobb syndrome
: code 53721
Cobblestone lissencephaly withoutmuscular or eye involvement
: code 352682
Cobblestone lissencephaly withoutmuscular or ocular involvement
: code 352682
Cocaine embryofetopathy
: code 1911
Cocaine intoxication
: code 90068
Coccidioides infection
: code 228123
Coccidioidomycosis
: code 228123
Cochlear nerve deficiency
: code 502318
Cochleosaccular degeneration-cataract syndrome
: code 3233
Cochleovestibular dysplasia
: code 502305
Cockayne syndrome
: code 191
Cockayne syndrome type 1
: code 90321
Cockayne syndrome type 2
: code 90322
Cockayne syndrome type 3
: code 90324
Cockayne syndrome type I
: code 90321
Cockayne syndrome type II
: code 90322
Cockayne syndrome type III
: code 90324
CODAS syndrome
: code 1458
Coffin-Lowry syndrome
: code 192
Coffin-Siris syndrome
: code 1465
COFS syndrome
: code 1466
COG1-CDG
: code 263508
COG2-CDG
: code 435934
COG2-related congenital disorder ofglycosylation
: code 435934
COG4-CDG
: code 263501
COG5-CDG
: code 263487
COG6-CGD
: code 464443
COG7-CDG
: code 79333
COG8-CDG
: code 95428
Cogan microcystic epithelialdystrophy
: code 98956
Cogan syndrome
: code 1467
Cogan-Reese syndrome
: code 98980
Cognitive impairment-coarse facies- heart defects-obesity-pulmonary involvement-short stature-skeletaldysplasia syndrome
: code 444077
Cohen syndrome
: code 193
Cohen-Hayden syndrome
: code 2969
COIF
: code 79144
COIF syndrome
: code 79144
COL4A1-related brain small vesseldisease with hemorrhage
: code 36383
COL4A1-related familial vascularleukoencephalopathy
: code 36383
COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis- autosomal dominantleukoencephalopathy syndrome
: code 36383
Colchicine poisoning
: code 31824
Cold agglutinin disease
: code 56425
Cold agglutinin syndrome
: code 56425
Cold-induced sweating syndrome
: code 157820
Cole disease
: code 324561
Cole-Carpenter syndrome
: code 2050
Collagen type III glomerulopathy
: code 84087
Collagenofibrotic glomerulopathy
: code 84087
Collecting duct carcinoma
: code 247203
Collins-Pope syndrome
: code 2412
Coloboma of choroid and retina
: code 98942
Coloboma of eye lens
: code 98943
Coloboma of eyelid
: code 98946
Coloboma of inferior eyelid
: code 155889
Coloboma of iris
: code 98944
Coloboma of macula
: code 98945
Coloboma of macula-brachydactylytype B syndrome
: code 1471
Coloboma of optic disc
: code 98947
Coloboma of optic nerve with renaldisease
: code 1475
Coloboma of optic papilla
: code 98947
Coloboma of superior eyelid
: code 155884
Coloboma-congenital heart disease- ichthyosiform dermatosis- intellectual disability-ear anomaliessyndrome
: code 3474
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalitiessyndrome
: code 138
Colobomatous macrophthalmia-microcornea syndrome
: code 468672
Colobomatous microphthalmia
: code 98938
Colobomatous microphthalmia- obesity-hypogenitalism-intellectualdisability syndrome
: code 363741
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
: code 424099
Colobomatous optic disc-macular atrophy-chorioretinopathysyndrome
: code 435930
Colobomatous-microphthalmia-heart disease-hearing loss syndrome
: code 138
Colonic atresia
: code 1198
Colonic NET
: code 100080
Color blindness blue monoconemonochromatic type
: code 16
Colorado tick encephalitis
: code 83595
Colorado tick fever
: code 83595
Colorado tick-borne disease
: code 83595
Colorectal adenomatous polyposis
: code 733
Colorectal adenomatous polyposisdue to monosomy 5q22.2
: code 261584
Combined 17-hydroxylase/17 20-lyase deficiency
: code 90793
Combined alpha-delta plateletstorage pool deficiency
: code 734
Combined cerebellar and peripheral ataxia-hearing loss-diabetesmellitus syndrome
: code 445062
Combined cervical dystonia
: code 370114
Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaricacidemia
: code 356978
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaricaciduria
: code 356978
Combined defect in adenosylcobalamin andmethylcobalamin synthesis
: code 26
Combined defect in adenosylcobalamin and methylcobalamin synthesis typecblC
: code 79282
Combined defect in adenosylcobalamin and methylcobalamin synthesis typecblD
: code 79283
Combined defect in adenosylcobalamin and methylcobalamin synthesis typecblF
: code 79284
Combined defect in adenosylcobalamin and methylcobalamin synthesis typecblJ
: code 369955
Combined defect in adenosylcobalamin and methylcobalamin synthesis typecblX
: code 369962
Combined deficiency of factor Vand factor VIII
: code 35909
Combined deficiency of sulfite oxidase xanthine dehydrogenaseand aldehyde oxidase
: code 99732
Combined deficiency of sulfite oxidase xanthine dehydrogenaseand aldehyde oxidase type A
: code 308386
Combined deficiency of sulfite oxidase xanthine dehydrogenaseand aldehyde oxidase type B
: code 308393
Combined deficiency of sulfite oxidase xanthine dehydrogenaseand aldehyde oxidase type C
: code 308400
Combined hamartoma of the retinaand retinal pigment epithelium
: code 440727
Combined hamartoma of the retinaand RPE
: code 440727
Combined hyperactive dysfunctionsyndrome of the cranial nerves
: code 221078
Combined immunodeficiency dueto CD3gamma deficiency
: code 169082
Combined immunodeficiency dueto CRAC channel dysfunction
: code 169090
Combined immunodeficiency due to dedicator of cytokinesis 8 proteindeficiency
: code 217390
Combined immunodeficiency dueto DOCK8 deficiency
: code 217390
Combined immunodeficiency dueto GINS1 deficiency
: code 505227
Combined immunodeficiency dueto IKAROS deficiency
: code 317473
Combined immunodeficiency dueto LRBA deficiency
: code 445018
Combined immunodeficiency dueto MAGT1 deficiency
: code 317476
Combined immunodeficiency dueto MALT1 deficiency
: code 397964
Combined immunodeficiency dueto Moesin deficiency
: code 504530
Combined immunodeficiency dueto ORAI1 deficiency
: code 317428
Combined immunodeficiency dueto OX40 deficiency
: code 431149
Combined immunodeficiency dueto partial RAG1 deficiency
: code 231154
Combined immunodeficiency dueto PGM3 deficiency
: code 443811
Combined immunodeficiency dueto RAG 1/2 deficiency
: code 157949
Combined immunodeficiency dueto STIM1 deficiency
: code 317430
Combined immunodeficiency dueto STK4 deficiency
: code 314689
Combined immunodeficiency dueto TFRC deficiency
: code 476113
Combined immunodeficiency dueto ZAP70 deficiency
: code 911
Combined immunodeficiency withchildhood-onset Kaposi sarcoma
: code 431149
Combined immunodeficiency withexpansion of gamma delta T cells
: code 231154
Combined immunodeficiency withfaciooculoskeletal anomalies
: code 221139
Combined immunodeficiency withhypereosinophilia
: code 39041
Combined immunodeficiency withimpaired immunity to HHV-8
: code 431149
Combined immunodeficiency with impaired immunity to humanherpes virus 8
: code 431149
Combined immunodeficiency with intrauterine growth retardation- natural killer cell deficiency-neutropenia
: code 505227
Combined immunodeficiency with intrauterine growth retardation-NKcell deficiency-neutropenia
: code 505227
Combined immunodeficiency withskin granulomas
: code 157949
Combined immunodeficiency with susceptibility to mycobacterial viraland fungal infections
: code 228423
Combined immunodeficiency-enteropathy spectrum
: code 436252
Combined immunodeficiency- microcephaly-growth retardation- sensitivity to ionizing radiationsyndrome
: code 169079
Combined insulin insulin-like growth factor 1 (IGF1) andepidermal growth factor (EGF)
: code 1979
Combined malonic andmethylmalonic acidemia
: code 289504
Combined malonic andmethylmalonic aciduria
: code 289504
Combined oxidativephosphorylation defect type 2
: code 254920
Combined oxidativephosphorylation defect type 4
: code 254925
Combined oxidativephosphorylation defect type 5
: code 137908
Combined oxidativephosphorylation defect type 7
: code 254930
Combined oxidativephosphorylation defect type 8
: code 319504
Combined oxidativephosphorylation defect type 9
: code 319509
Combined oxidativephosphorylation defect type 10
: code 314637
Combined oxidativephosphorylation defect type 11
: code 324535
Combined oxidativephosphorylation defect type 12
: code 314051
Combined oxidativephosphorylation defect type 13
: code 319514
Combined oxidativephosphorylation defect type 14
: code 319519
Combined oxidativephosphorylation defect type 15
: code 319524
Combined oxidativephosphorylation defect type 16
: code 352563
Combined oxidativephosphorylation defect type 17
: code 369913
Combined oxidativephosphorylation defect type 20
: code 420728
Combined oxidativephosphorylation defect type 21
: code 420733
Combined oxidativephosphorylation defect type 23
: code 444013
Combined oxidativephosphorylation defect type 24
: code 444458
Combined oxidativephosphorylation defect type 25
: code 447954
Combined oxidativephosphorylation defect type 26
: code 477684
Combined oxidativephosphorylation defect type 27
: code 477774
Combined oxidativephosphorylation defect type 28
: code 466784
Combined oxidativephosphorylation defect type 29
: code 478029
Combined oxidativephosphorylation defect type 30
: code 478042
Combined pancreatic lipase-colipase deficiency
: code 309111
Combined pituitary hormone
: code 95494
Combined prosaposin deficiency
: code 139406
Combined pulmonary fibrosis-emphysema syndrome
: code 300564
Comedo nevus of the palm
: code 166286
Commissural facial cleft
: code 141276
Commissural lip fistula
: code 141061
Common aorticopulmonary trunk
: code 3384
Common arterial trunk
: code 3384
Common atrioventricular canal
: code 1329
Common hereditary elliptocytosis
: code 288
Common mesentery
: code 620
Common variableimmunodeficiency
: code 1572
Communicating congenital bronchopulmonary-foregutmalformation
: code 280821
Complement component 3deficiency
: code 280133
Complete androgen insensitivitysyndrome
: code 99429
Complete androgen resistancesyndrome
: code 99429
Complete atrioventricular canal
: code 1329
Complete atrioventricular canal-leftheart obstruction syndrome
: code 99066
Complete atrioventricular canal-tetralogy of Fallot syndrome
: code 99068
Complete atrioventricular canal-ventricle hypoplasia syndrome
: code 99067
Complete atrioventricular septaldefect
: code 1329
Complete cryptophthalmia
: code 98949
Complete deficiency ofmethylmalonyl-CoA mutase
: code 289916
Complete growth hormoneinsensitivity
: code 633
Complete hydatidiform mole
: code 254688
Complete LCAT deficiency
: code 79293
Complete mevalonate kinasedeficiency
: code 29
Complete molar pregnancy
: code 254688
Complete or incomplete colorblindness
: code 49382
Complete septate uterus
: code 180126
Complete situs inversus
: code 101063
Complete situs inversus viscerum
: code 101063
Complete unilateral aplasia of theMllerian ducts
: code 180074
Complete unilateral Mllerianaplasia
: code 180074
Complex lethalosteochondrodysplasia
: code 457378
Complex lethalosteochondrodysplasia Symoens-
: code 457378
Complex regional pain syndrome
: code 83452
Complex regional pain syndrometype 1
: code 99995
Complex regional pain syndrometype 2
: code 99994
Complication after organtransplantation
: code 306644
Complication in hemodialysis
: code 268316
Composite hemangioendothelioma
: code 458758
Composite Hodgkin and non-Hodgkin lymphoma
: code 168966
Composite lymphoma
: code 168966
Coml-Netherton syndrome
: code 634
Concentric demyelination
: code 228165
Conductive deafness with stapesfixation
: code 383
Conductive deafness-malformedexternal ear syndrome
: code 3216
Conductive deafness-ptosis-skeletalanomalies syndrome
: code 3236
Conductive hearing loss-malformedexternal ear syndrome
: code 3216
Cone dystrophy
: code 1871
Cone dystrophy with supernormalrod electroretinogram
: code 209932
Cone dystrophy with supernormalrod ERG
: code 209932
Cone dystrophy with supernormalrod response
: code 209932
Cone dystrophy with supernormalscotopic electroretinogram
: code 209932
Cone rod dystrophy
: code 1872
Cone rod dystrophy-amelogenesisimperfecta syndrome
: code 1873
Confetti-like macular atrophy
: code 221142
Congenital abducens nerve palsy
: code 440233
Congenital absence of both forearmand hand
: code 294979
Congenital absence of both lowerleg and foot
: code 294981
Congenital absence of fingerprints
: code 289465
Congenital absence of foot
: code 294986
Congenital absence of hand
: code 294983
Congenital absence of humerus
: code 294973
Congenital absence of lacrimalpuncta and salivary glands
: code 86815
Congenital absence of pain withhyperhidrosis
: code 217399
Congenital absence of pain withsevere intellectual disability
: code 453510
Congenital absence of the scrotum
: code 495879
Congenital absence of thigh andlower leg with foot present
: code 294977
Congenital absence of tibia
: code 93322
Congenital absence of ulna andfibula
: code 2879
Congenital absence of upper armand forearm with hand present
: code 294975
Congenital absence of uterus andvagina
: code 247775
Congenital absence of vagina
: code 96269
Congenital absence/hypoplasia offingers excluding thumb unilateral
: code 973
Congenital absence/hypoplasia ofthumb
: code 294988
Congenital achiasma
: code 324353
Congenital ADAMTS-13 deficiency
: code 93583
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroiddehydrogenase deficiency
: code 90791
Congenital adrenal hyperplasia dueto 11-beta-hydroxylase deficiency
: code 90795
Congenital adrenal hyperplasia dueto 17-alpha-hydroxylase deficiency
: code 90793
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductasedeficiency
: code 95699
Congenital adrenal hyperplasia dueto cytochrome POR deficiency
: code 95699
Congenital agenesis of labia majora or scrotum-cerebellarmalformation-corneal dystrophy-facial dysmorphism syndrome
: code 495875
Congenital agenesis of the scrotum
: code 495879
Congenital aleukocytosis
: code 33355
Congenital alpha2-antiplasmindeficiency
: code 79
Congenital alveolar capillarydysplasia
: code 210122
Congenital amegakaryocyticthrombocytopenia
: code 3319
Congenital amegakaryocyticthrombocytopenic purpura
: code 3319
Congenital amyoplasia
: code 488586
Congenital analbuminemia
: code 86816
Congenital analgesia withhyperhidrosis
: code 217399
Congenital analgesia with severeintellectual disability
: code 453510
Congenital anomaly of hepatic vein
: code 95507
Congenital anteriormegalophthalmia
: code 91489
Congenital aortic valve insufficiency
: code 95449
Congenital aortic valve stenosis
: code 3093
Congenital aortopulmonary arteryfistula
: code 2037
Congenital aortopulmonary septaldefect
: code 2037
Congenital aortopulmonarywindow
: code 2037
Congenital aplasia and dysplasia ofthe tibia with intact fibula
: code 93322
Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalizedpolyneuropathy
: code 2926
Congenital arteriovenousanastomoses of the retina
: code 353334
Congenital arteriovenouscommunication of the retina
: code 353334
Congenital atransferrinemia
: code 1195
Congenital atrioventricular block
: code 60041
Congenital auditory ossicle malformation without external earabnormality
: code 162526
Congenital benign spinal muscularatrophy with contractures
: code 1216
Congenital bilateral absence of vasdeferens
: code 48
Congenital bilateral agenesis of vasdeferens
: code 48
Congenital bilateral aplasia of vasdeferens
: code 48
Congenital bilateral megacalycosis
: code 93177
Congenital bile acid synthesisdefect type 1
: code 79301
Congenital bile acid synthesisdefect type 2
: code 79303
Congenital bile acid synthesisdefect type 3
: code 79302
Congenital bile acid synthesisdefect type 4
: code 79095
Congenital bowing of long bones
: code 2292
Congenital brain dysgenesis due toglutamine synthetase deficiency
: code 71278
Congenital bronchobiliary fistula
: code 2040
Congenital bronchopulmonarysequestration
: code 3161
Congenital cataract microcorneawith corneal opacity
: code 289499
Congenital cataract-deafness- severe developmental delaysyndrome
: code 300313
Congenital cataract-hearing loss- severe developmental delaysyndrome
: code 300313
Congenital cataract-hypertrophic cardiomyopathy-mitochondrialmyopathy syndrome
: code 1369
Congenital cataract-microcephaly- nevus flammeus simplex-severeintellectual disability syndrome
: code 464738
Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
: code 330054
Congenital cataract-progressive
: code 330054
Congenital cataracts-facialdysmorphism-neuropathy syndrome
: code 48431
Congenital central alveolarhypoventilation syndrome
: code 661
Congenital central alveolarhypoventilation-Hirschsprung disease syndrome
: code 99803
Congenital cervical spinal stenosis
: code 831
Congenital cervical vertebral fusion
: code 2345
Congenital chloride diarrhea
: code 53689
Congenital chronic diarrhea withexudative enteropathy
: code 329242
Congenital chronic diarrhea withprotein-losing enteropathy
: code 329242
Congenital chylothorax
: code 264688
Congenital circumferential skinfolds
: code 2505
Congenital Claude-Bernard-Hornersyndrome
: code 91413
Congenital CNIII lesion
: code 440221
Congenital CNIV palsy
: code 98686
Congenital CNVI palsy
: code 440233
Congenital communicatinghydrocephalus
: code 269505
Congenital complete agenesis ofpericardium
: code 99129
Congenital contracturalarachnodactyly
: code 115
Congenital convex foot
: code 178382
Congenital convex pes valgus
: code 178382
Congenital cornea plana
: code 53691
Congenital coronary aneurysm
: code 95491
Congenital coronary arteryaneurysm
: code 95491
Congenital cystic adenomatoidmalformation of the lung
: code 2444
Congenital cystic adenomatoidmalformation of the lung type 0
: code 280827
Congenital cystic adenomatoidmalformation of the lung type 1
: code 280832
Congenital cystic adenomatoidmalformation of the lung type 2
: code 280840
Congenital cystic adenomatoidmalformation of the lung type 3
: code 280847
Congenital cystic adenomatoidmalformation of the lung type 4
: code 280854
Congenital cystic adenomatousmalformation of the lung
: code 2444
Congenital cystic adenomatousmalformation of the lung type 0
: code 280827
Congenital cystic adenomatousmalformation of the lung type 1
: code 280832
Congenital cystic adenomatousmalformation of the lung type 2
: code 280840
Congenital cystic adenomatousmalformation of the lung type 3
: code 280847
Congenital cystic adenomatousmalformation of the lung type 4
: code 280854
Congenital cystic dilatation of thebiliary tract
: code 480501
Congenital cystic disease of thelung
: code 2444
Congenital cystic disease of thelung type 1
: code 280832
Congenital cystic disease of thelung type 2
: code 280840
Congenital cystic disease of thelung type 3
: code 280847
Congenital deficiency in alpha-fetoprotein
: code 168612
Congenital diaphragmatic hernia
: code 2140
Congenital disorder of glycosylationdue to PIGG deficiency
: code 488635
Congenital disorder of glycosylationdue to PIGL deficiency
: code 3474
Congenital disorder of glycosylationdue to PIGM deficiency
: code 83639
Congenital disorder of glycosylationdue to PIGN deficiency
: code 280633
Congenital disorder of glycosylationdue to PIGT deficiency
: code 369837
Congenital disorder of glycosylationtype 1a
: code 79318
Congenital disorder of glycosylationtype 1b
: code 79319
Congenital disorder of glycosylationtype 1c
: code 79320
Congenital disorder of glycosylationtype 1d
: code 79321
Congenital disorder of glycosylationtype 1e
: code 79322
Congenital disorder of glycosylationtype 1f
: code 79323
Congenital disorder of glycosylationtype 1g
: code 79324
Congenital disorder of glycosylationtype 1h
: code 79325
Congenital disorder of glycosylationtype 1i
: code 79326
Congenital disorder of glycosylationtype 1j
: code 86309
Congenital disorder of glycosylationtype 1k
: code 79327
Congenital disorder of glycosylationtype 1L
: code 79328
Congenital disorder of glycosylationtype 1m
: code 91131
Congenital disorder of glycosylationtype 1n
: code 244310
Congenital disorder of glycosylation
: code 263494
Congenital disorder of glycosylationtype 1p
: code 280071
Congenital disorder of glycosylationtype 1q
: code 324737
Congenital disorder of glycosylationtype 1r
: code 300536
Congenital disorder of glycosylationtype 1s
: code 324422
Congenital disorder of glycosylationtype 1t
: code 319646
Congenital disorder of glycosylationtype 1u
: code 329178
Congenital disorder of glycosylationtype 1w
: code 370921
Congenital disorder of glycosylationtype 1x
: code 370924
Congenital disorder of glycosylationtype 1y
: code 370927
Congenital disorder of glycosylationtype 1z
: code 448010
Congenital disorder of glycosylationtype 2 due to MAN1B1 deficiency
: code 397941
Congenital disorder of glycosylationtype 2a
: code 79329
Congenital disorder of glycosylationtype 2b
: code 79330
Congenital disorder of glycosylationtype 2d
: code 79332
Congenital disorder of glycosylationtype 2e
: code 79333
Congenital disorder of glycosylationtype 2f
: code 238459
Congenital disorder of glycosylationtype 2g
: code 263508
Congenital disorder of glycosylationtype 2h
: code 95428
Congenital disorder of glycosylationtype 2i
: code 263487
Congenital disorder of glycosylationtype 2j
: code 263501
Congenital disorder of glycosylationtype 2k
: code 314667
Congenital disorder of glycosylationtype 2l
: code 464443
Congenital disorder of glycosylationtype 2m
: code 356961
Congenital disorder of glycosylationtype 2n
: code 468699
Congenital disorder of glycosylationtype 2o
: code 468684
Congenital disorder of glycosylationtype 2p
: code 466703
Congenital disorder of glycosylationtype Ia
: code 79318
Congenital disorder of glycosylation
: code 79319
Congenital disorder of glycosylationtype Ic
: code 79320
Congenital disorder of glycosylationtype Id
: code 79321
Congenital disorder of glycosylationtype Ie
: code 79322
Congenital disorder of glycosylationtype If
: code 79323
Congenital disorder of glycosylationtype Ig
: code 79324
Congenital disorder of glycosylationtype Ih
: code 79325
Congenital disorder of glycosylationtype Ii
: code 79326
Congenital disorder of glycosylationtype II due to MAN1B1 deficiency
: code 397941
Congenital disorder of glycosylationtype IIa
: code 79329
Congenital disorder of glycosylationtype IIb
: code 79330
Congenital disorder of glycosylationtype IId
: code 79332
Congenital disorder of glycosylationtype IIe
: code 79333
Congenital disorder of glycosylationtype IIf
: code 238459
Congenital disorder of glycosylationtype IIg
: code 263508
Congenital disorder of glycosylationtype IIh
: code 95428
Congenital disorder of glycosylationtype IIi
: code 263487
Congenital disorder of glycosylationtype IIj
: code 263501
Congenital disorder of glycosylationtype IIk
: code 314667
Congenital disorder of glycosylationtype IIL
: code 464443
Congenital disorder of glycosylationtype IIm
: code 356961
Congenital disorder of glycosylationtype IIn
: code 468699
Congenital disorder of glycosylationtype IIo
: code 468684
Congenital disorder of glycosylationtype IIp
: code 466703
Congenital disorder of glycosylationtype Ij
: code 86309
Congenital disorder of glycosylationtype Ik
: code 79327
Congenital disorder of glycosylationtype Im
: code 91131
Congenital disorder of glycosylationtype In
: code 244310
Congenital disorder of glycosylation
: code 263494
Congenital disorder of glycosylationtype Ip
: code 280071
Congenital disorder of glycosylationtype Iq
: code 324737
Congenital disorder of glycosylationtype Ir
: code 300536
Congenital disorder of glycosylationtype Is
: code 324422
Congenital disorder of glycosylationtype It
: code 319646
Congenital disorder of glycosylationtype Iu
: code 329178
Congenital disorder of glycosylationtype Iw
: code 370921
Congenital disorder of glycosylationtype Ix
: code 370924
Congenital disorder of glycosylationtype Iy
: code 370927
Congenital dyserythropoieticanemia due to KLF1 mutation
: code 293825
Congenital dyserythropoieticanemia type 1
: code 98869
Congenital dyserythropoieticanemia type 2
: code 98873
Congenital dyserythropoieticanemia type 3
: code 98870
Congenital dyserythropoieticanemia type 4
: code 293825
Congenital dyserythropoieticanemia type I
: code 98869
Congenital dyserythropoieticanemia type II
: code 98873
Congenital dyserythropoieticanemia type III
: code 98870
Congenital dyserythropoieticanemia type IV
: code 293825
Congenital dyserythropoieticanemia with thombocytopenia
: code 67044
Congenital EBV infection
: code 70596
Congenital ectropion uveae
: code 91491
Congenital elbow dislocation bilateral
: code 295227
Congenital elbow dislocation unilateral
: code 295225
Congenital enterocyte heparansulfate deficiency
: code 103910
Congenital enterokinase deficiency
: code 168601
Congenital enteropathy due toenteropeptidase deficiency
: code 168601
Congenital enterovirus infection
: code 292
Congenital Epstein-Barr virusinfection
: code 70596
Congenital epulis
: code 157826
Congenital erosive and vesiculardermatosis
: code 231573
Congenital erosive and vesicular dermatosis with reticulated supplescarring
: code 231573
Congenital erythrocytosis due toerythropoietin receptor mutation
: code 90042
Congenital erythroderma- hypotrichosis-recurrent infections-multiple food allergies syndrome
: code 369992
Congenital erythropoietic porphyria
: code 79277
Congenital esophageal diverticulum
: code 91358
Congenital esophageal pouch
: code 91358
Congenital essential nyctalopia
: code 215
Congenital estrogen deficiency
: code 91
Congenital extrapulmonarysequestration
: code 280811
Congenital eyelid retraction
: code 99176
Congenital facial diplegia
: code 570
Congenital factor II deficiency
: code 325
Congenital factor V deficiency
: code 326
Congenital factor VII deficiency
: code 327
Congenital factor X deficiency
: code 328
Congenital factor XI deficiency
: code 329
Congenital factor XII deficiency
: code 330
Congenital factor XIII deficiency
: code 331
Congenital fiber-type disproportionmyopathy
: code 2020
Congenital fibrinogen deficiency
: code 335
Congenital fibrosis of extraocularmuscles
: code 45358
Congenital folate malabsorption
: code 90045
Congenital fourth cranial nervepalsy
: code 98686
Congenital fused cervical segments
: code 2345
Congenital generalized hypercontractile muscle stiffnesssyndrome
: code 476406
Congenital generalizedhypertrichosis terminalis
: code 2026
Congenital generalizedhypertrichosis Ambras type
: code 1023
Congenital generalizedhypertrichosis Macias-Flores type
: code 79495
Congenital genu flexum
: code 295232
Congenital genu recurvatum
: code 295229
Congenital Gerbode defect
: code 99095
Congenital gingival cell tumor
: code 157826
Congenital glaucoma
: code 98976
Congenital granular cell tumor
: code 157826
Congenital Hageman factordeficiency
: code 330
Congenital heart block
: code 60041
Congenital heart defect-round face-developmental delay syndrome
: code 1355
Congenital hemidysplasia withichthyosiform nevus and limbs
: code 139
Congenital hereditary endothelialdystrophy type 1
: code 98975
Congenital hereditary endothelialdystrophy type 2
: code 293603
Congenital hereditary endothelialdystrophy type I
: code 98975
Congenital hereditary endothelialdystrophy type II
: code 293603
Congenital hereditary facial palsywith variable deafness
: code 306530
Congenital hereditary facial palsywith variable hearing loss
: code 306530
Congenital hereditary facialparalysis with variable deafness
: code 306530
Congenital hereditary facial paralysis-variable deafnesssyndrome
: code 306530
Congenital hereditary facial paralysis-variable hearing losssyndrome
: code 306530
Congenital hereditary stromaldystrophy
: code 101068
Congenital herpes simplex virusinfection
: code 293
Congenital high-molecular-weightkininogen deficiency
: code 483
Congenital Horner syndrome
: code 91413
Congenital hydrocephalus
: code 2185
Congenital hydronephrosis
: code 2190
Congenital hypogonadotropichypogonadism with anosmia
: code 478
Congenital hypoplasia of humerus
: code 294973
Congenital hypoplastic anemia Blackfan-Diamond type
: code 124
Congenital hypothalamichamartoma syndrome
: code 672
Congenital hypothyroidism due tomaternal intake of antithyroid drugs
: code 226313
Congenital hypothyroidism due to transplacental passage of maternalTSH-binding inhibitory antibodies
: code 95715
Congenital hypotransferrinemia
: code 1195
Congenital hypotrichosis-miliasyndrome
: code 113
Congenital ichthyosis type 4
: code 88621
Congenital ichthyosis-intellectual disability-spastic quadriplegiasyndrome
: code 352333
Congenital ichthyosis-intellectual disability-spastic tetraplegiasyndrome
: code 352333
Congenital ichthyosis- microcephalus-quadriplegiasyndrome
: code 2271
Congenital ichthyosis-
: code 2271
Congenital IGHD
: code 631
Congenital IGHD type IA
: code 231662
Congenital IGHD type IB
: code 231671
Congenital IGHD type II
: code 231679
Congenital IGHD type III
: code 231692
Congenital ILNEB syndrome
: code 306504
Congenital indifference to pain withhyperhidrosis
: code 217399
Congenital insensitivity to pain andthermal analgesia
: code 64752
Congenital insensitivity to pain withhyperhidrosis
: code 217399
Congenital insensitivity to pain with hyperhidrosis and gastrointestinaldysfunction
: code 391397
Congenital insensitivity to pain withpreserved temperature sensation
: code 453510
Congenital insensitivity to pain withsevere intellectual disability
: code 453510
Congenital insensitivity to pain with severe non-progressive cognitivedelay
: code 453510
Congenital insensitivity to pain-anhidrosis syndrome
: code 642
Congenital interstitial lung disease- nephrotic syndrome-epidermolysisbullosa syndrome
: code 306504
Congenital intestinal aganglionosis
: code 388
Congenital intrapulmonarysequestration
: code 280802
Congenital intrauterine infection-like syndrome
: code 1229
Congenital intrinsic factordeficiency
: code 332
Congenital isolated ACTH deficiency
: code 199296
Congenital isolated GH deficiency
: code 631
Congenital isolated GH deficiencytype IA
: code 231662
Congenital isolated GH deficiencytype IB
: code 231671
Congenital isolated GH deficiencytype II
: code 231679
Congenital isolated GH deficiencytype III
: code 231692
Congenital isolated growthhormone deficiency
: code 631
Congenital isolated growthhormone deficiency type IA
: code 231662
Congenital isolated growthhormone deficiency type IB
: code 231671
Congenital isolated growthhormone deficiency type II
: code 231679
Congenital isolated growthhormone deficiency type III
: code 231692
Congenital knee dislocation
: code 295034
Congenital labioscrotal agenesis- cerebellar malformation-corneal dystrophy-facial dysmorphismsyndrome
: code 495875
Congenital lactase deficiency
: code 53690
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
: code 70472
Congenital lamellar ichthyosis
: code 313
Congenital Langerhans cellhistiocytosis
: code 99872
Congenital laryngeal cyst
: code 141124
Congenital laryngeal palsy
: code 137932
Congenital laryngeal web
: code 2374
Congenital laryngomalacia
: code 2373
Congenital lethal erythroderma
: code 1954
Congenital lethal myopathy Compton-North type
: code 210163
Congenital lipoid adrenalhyperplasia due to STAR deficency
: code 90790
Congenital lipomatous overgrowth- vascular malformation-epidermalnevi-skeletal anomaly syndrome
: code 140944
Congenital lipomatous overgrowth- vascular malformation-epidermalnevi-spinal anomaly syndrome
: code 140944
Congenital lobar emphysema
: code 1928
Congenital lobar hyperinflation
: code 1928
Congenital longitudinal deficiencyof the fibula
: code 93323
Congenital longitudinal deficiencyof the radius
: code 93321
Congenital longitudinal deficiencyof the tibia
: code 93322
Congenital longitudinal deficiencyof the ulna
: code 93320
Congenital macroglossia
: code 2430
Congenital major airway collapse
: code 95430
Congenital malabsorptive diarrhea due to paucity of enteroendocrinecells
: code 83620
Congenital megacalycosis
: code 93109
Congenital megaconial myopathy
: code 280671
Congenital membranous nephropathy due to maternal anti- neutral endopeptidasealloimmunization
: code 69063
Congenital mesoblastic nephroma
: code 2665
Congenital methemoglobinemia
: code 621
Congenital microcephaly-severe encephalopathy-progressivecerebral atrophy syndrome
: code 391376
Congenital microcoria
: code 566
Congenital microgastria
: code 199293
Congenital microvillous atrophy
: code 2290
Congenital microvillus atrophy
: code 2290
Congenital miosis
: code 566
Congenital mitral stenosis
: code 99057
Congenital multicore myopathywith external ophthalmoplegia
: code 98905
Congenital multiple caf-au-lait macules-increased sister chromatidexchange syndrome
: code 508512
Congenital muscular dystrophy dueto laminin alpha2 deficiency
: code 258
Congenital muscular dystrophy dueto LMNA mutation
: code 157973
Congenital muscular dystrophy dueto phosphatidylcholine biosynthesis defect
: code 280671
Congenital muscular dystrophy type1A
: code 258
Congenital muscular dystrophy type1B
: code 98893
Congenital muscular dystrophy type1C
: code 370953
Congenital muscular dystrophy type1D
: code 370953
Congenital muscular dystrophywith cerebellar involvement
: code 370959
Congenital muscular dystrophywith hyperlaxity
: code 371007
Congenital muscular dystrophywith integrin alpha-7 deficiency
: code 34520
Congenital muscular dystrophywith intellectual disability
: code 370968
Congenital muscular dystrophy with intellectual disability andsevere epilepsy
: code 329178
Congenital muscular dystrophywith ITGA7 deficiency
: code 34520
Congenital muscular dystrophy with mitochondrial structuralabnormalities
: code 280671
Congenital muscular dystrophywithout intellectual disability
: code 370980
Congenital muscular dystrophy Davignon-Chauveau type
: code 486815
Congenital muscular dystrophy Fukuyama type
: code 272
Congenital muscular dystrophy Ullrich type
: code 75840
Congenital muscular dystrophy- dystroglycanopathy withoutintellectual disability
: code 370980
Congenital muscular dystrophy- infantile cataract-hypogonadismsyndrome
: code 1875
Congenital muscular dystrophy- respiratory failure-skinabnormalities-joint hyperlaxity
: code 486815
Congenital myasthenic syndrome
: code 590
Congenital myasthenic syndromeswith glycosylation defect
: code 353327
Congenital myopathy with excess ofthin filaments
: code 98904
Congenital myopathy with internalnuclei and atypical cores
: code 319160
Congenital myopathy withmyasthenic-like onset
: code 424107
Congenital myopathy Paradas type
: code 199329
Congenital myopathy-cleft palate-malignant hyperthermia syndrome
: code 168572
Congenital myosclerosis Lwenthaltype
: code 289380
Congenital narrowing of cervicalspinal canal
: code 831
Congenital nasal pyriform aperturestenosis with holoprosencephaly
: code 162521
Congenital NCL
: code 168486
Congenital NEP syndrome
: code 306504
Congenital nephrosis-cerebralventriculomegaly syndrome
: code 443988
Congenital nephrotic syndrome Finnish type
: code 839
Congenital nephrotic syndrome- epidermolysis bullosa-pulmonarydisease syndrome
: code 306504
Congenital nephrotic syndrome- interstitial lung disease-epidermolysis bullosa syndrome
: code 306504
Congenital neuronal ceroidlipofuscinosis
: code 168486
Congenital neutropenia-bone marrow fibrosis-nephromegalysyndrome
: code 369852
Congenital neutropenia- myelofibrosis-nephromegalysyndrome
: code 369852
Congenital non-bullousichthyosiform erythroderma
: code 79394
Congenital non-communicatinghydrocephalus
: code 269510
Congenital non-obstructivehydrocephalus
: code 269505
Congenital nonprogressive spinalmuscular atrophy
: code 1216
Congenital nonprogressivespinocerebellar ataxia
: code 208513
Congenital obstructivehydrocephalus
: code 269510
Congenital oculomotor nerve palsy
: code 440221
Congenital onychodysplasia of theindex fingers
: code 79144
Congenital or early infantile CACHsyndrome
: code 157713
Congenital osteogenesis imperfecta-microcephaly-cataractssyndrome
: code 2772
Congenital PAI-1 deficiency
: code 465
Congenital pancreatic agenesis
: code 2805
Congenital pancreatic cyst
: code 313906
Congenital panfollicular nevus
: code 139414
Congenital PAP
: code 264675
Congenital partial agenesis ofpericardium
: code 99130
Congenital partial pulmonaryvenous return anomaly
: code 99124
Congenital patella dislocation
: code 295036
Congenital patent ductus arteriosusaneurysm
: code 99072
Congenital pernicious anemia
: code 332
Congenital pigmented nevus
: code 626
Congenital plasminogen activatorinhibitor type 1 deficiency
: code 465
Congenital poikiloderma withbullae Weary type
: code 2907
Congenital polycythemia due toerythropoietin receptor mutation
: code 90042
Congenital portosystemic shunt
: code 480531
Congenital portosystemic venousfistula
: code 480531
Congenital PRCA
: code 124
Congenital prekallikrein deficiency
: code 749
Congenital primary aphakia
: code 83461
Congenital primary lymphedema
: code 79452
Congenital primary megalo-ureter
: code 617
Congenital primary megaureter
: code 617
Congenital primary megaureter nonrefluxing and unobstructed form
: code 238654
Congenital primary megaureter obstructed form
: code 238646
Congenital primary megaureter refluxing form
: code 238650
Congenital proconvertin deficiency
: code 327
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletaldysplasia syndrome
: code 508542
Congenital pseudarthrosis of theclavicle
: code 66630
Congenital pseudarthrosis of thefemur
: code 295020
Congenital pseudarthrosis of thefibula
: code 295022
Congenital pseudarthrosis of thelimbs
: code 157808
Congenital pseudarthrosis of theradius
: code 295024
Congenital pseudarthrosis of thetibia
: code 295018
Congenital pseudarthrosis of theulna
: code 295026
Congenital pseudoarthrosis of theclavicle
: code 66630
Congenital pseudoarthrosis of thefemur
: code 295020
Congenital pseudoarthrosis of thefibula
: code 295022
Congenital pseudoarthrosis of thelimbs
: code 157808
Congenital pseudoarthrosis of theradius
: code 295024
Congenital pseudoarthrosis of thetibia
: code 295018
Congenital pseudoarthrosis of theulna
: code 295026
Congenital ptosis
: code 91411
Congenital pulmonary airwaymalformation
: code 2444
Congenital pulmonary airwaymalformation type 0
: code 280827
Congenital pulmonary airwaymalformation type 1
: code 280832
Congenital pulmonary airwaymalformation type 2
: code 280840
Congenital pulmonary airwaymalformation type 3
: code 280847
Congenital pulmonary airwaymalformation type 4
: code 280854
Congenital pulmonary alveolarproteinosis
: code 264675
Congenital pulmonarylymphangiectasia
: code 2414
Congenital pulmonarysequestration
: code 3161
Congenital pulmonary valvestenosis
: code 3189
Congenital pulmonary veins atresiaor stenosis
: code 3188
Congenital pulmonary venolobarsyndrome
: code 185
Congenital pure red cell aplasia
: code 124
Congenital radioulnar synostosis
: code 3269
Congenital renal artery stenosis
: code 97598
Congenital renovascular hypoplasia
: code 97598
Congenital reticular ichthyosiformerythroderma
: code 281190
Congenital retinal arteriovenousanastomoses
: code 353334
Congenital retinal arteriovenouscommunication
: code 353334
Congenital retinal detachment
: code 91495
Congenital retinal telangiectasia
: code 190
Congenital rocker-bottom foot
: code 178382
Congenital rubella syndrome
: code 290
Congenital scalp defects with distal
: code 974
Congenital scalp defects with distallimb reduction anomalies
: code 974
Congenital scrotal absence
: code 495879
Congenital scrotal agenesis
: code 495879
Congenital short bowel syndrome
: code 2301
Congenital short femur
: code 1987
Congenital shoulder dislocation
: code 295030
Congenital sialidosis type 2
: code 93400
Congenital sideroblastic anemia
: code 260305
Congenital sideroblastic anemia-B- cell immunodeficiency-periodic fever-developmental delaysyndrome
: code 369861
Congenital smooth musclehamartoma
: code 263435
Congenital sodium diarrhea
: code 103908
Congenital spondyloepiphysealdysplasia
: code 94068
Congenital stationary nightblindness
: code 215
Congenital stationary nightblindness Oguchi type
: code 75382
Congenital stenosis of the cervicalspine
: code 831
Congenital stenosis of the inferiorcaval vein
: code 99122
Congenital stenosis of the inferiorvena cava
: code 99122
Congenital stenosis of the IVC
: code 99122
Congenital stiff man syndrome
: code 3197
Congenital stromal cornealdystrophy
: code 101068
Congenital Stuart factor deficiency
: code 328
Congenital subglottic stenosis
: code 141121
Congenital sucrase-isomaltasedeficiency
: code 35122
Congenital sucrase-isomaltase deficiency with minimal starchtolerance
: code 306446
Congenital sucrase-isomaltase deficiency with starch and lactoseintolerance
: code 306474
Congenital sucrase-isomaltasedeficiency with starch intolerance
: code 306436
Congenital sucrase-isomaltase deficiency without starchintolerance
: code 306462
Congenital sucrase-isomaltase deficiency without sucroseintolerance
: code 306486
Congenital sucrase-isomaltosemalabsorption
: code 35122
Congenital sucrase-isomaltose malabsorption with minimal starchtolerance
: code 306446
Congenital sucrase-isomaltose malabsorption with starch andlactose intolerance
: code 306474
Congenital sucrase-isomaltose malabsorption with starchintolerance
: code 306436
Congenital sucrase-isomaltose malabsorption without starchintolerance
: code 306462
Congenital sucrose intolerance
: code 35122
Congenital sucrose intolerance withminimal starch tolerance
: code 306446
Congenital sucrose intolerance withstarch and lactose intolerance
: code 306474
Congenital sucrose intolerance withstarch intolerance
: code 306436
Congenital sucrose intolerancewithout starch intolerance
: code 306462
Congenital sucrose-isomaltose malabsorption without sucroseintolerance
: code 306486
Congenital superior oblique palsy
: code 98686
Congenital suprabulbar paresis
: code 3465
Congenital supravalvular mitral ring
: code 99059
Congenital symblepharon
: code 98948
Congenital syphilis
: code 499009
Congenital syringomyelia
: code 99856
Congenital systemic arteriovenousfistula
: code 2039
Congenital temporomandibularjoint ankylosis
: code 210576
Congenital third cranial nerve palsy
: code 440221
Congenital thromboticthrombocytopenic purpura
: code 93583
Congenital total pulmonary venousreturn anomaly
: code 99125
Congenital toxoplasmosis
: code 858
Congenital tracheal stenosis
: code 141127
Congenital tracheobronchomegaly
: code 3347
Congenital tracheomalacia
: code 95430
Congenital tricuspid stenosis
: code 95459
Congenital trigeminal anesthesia
: code 231013
Congenital trismus
: code 210576
Congenital tritanopia
: code 88629
Congenital trochlear nerve palsy
: code 98686
Congenital TTP
: code 93583
Congenital tubular nose
: code 141099
Congenital tufting enteropathy
: code 92050
Congenital unguarded mitral orifice
: code 99060
Congenital unguarded tricuspidorifice
: code 95457
Congenital unilateral hypoplasia ofdepressor anguli oris
: code 1166
Congenital unilateral pulmonaryhypoplasia
: code 2258
Congenital valvular dysplasia
: code 1864
Congenital varicella syndrome
: code 291
Congenital velopharyngealincompetence
: code 2291
Congenital vertical talus
: code 178382
Congenital vertical talus bilateral
: code 295203
Congenital vertical talus unilateral
: code 295201
Congenital vocal cord paralysis
: code 137932
Congenitally correctedtransposition of the great arteries
: code 216694
Congenitally correctedtransposition of the great vessels
: code 216694
Congenitally short costocoracoidligament
: code 2391
Congenitally uncorrectedtransposition of the great arteries
: code 860
Congenitally uncorrected transposition of the great arterieswith cardiac malformation
: code 216729
Congenitally uncorrected transposition of the great arterieswith coarctation
: code 99042
Congenitally uncorrectedtransposition of the great vessels
: code 860
Congenitally uncorrected transposition of the great vesselswith cardiac malformation
: code 216729
Congenitally uncorrected transposition of the great vesselswith coarctation
: code 99042
Congo fever
: code 99827
Congo hemorrhagic fever
: code 99827
Congo red-negative amyloidosis-like glomerulopathy
: code 97566
Conjunctivitis lignosa
: code 97231
Conn adenoma with seizures andneurological abnormalities
: code 369929
Connatal PMD
: code 280210
Connective tissue disorder due toLH3 deficiency
: code 300284
Connective tissue disorder due tolysyl hydroxylase-3 deficiency
: code 300284
Connective tissue dysplasia Spellacy type
: code 2909
Cono-spondylar dysplasia
: code 420794
Conorenal syndrome
: code 140969
Conotruncal anomaly facesyndrome
: code 567
Conradi-Hnermann-Happlesyndrome
: code 35173
Constitutional megaloblastic anemia with severe neurologicdisease
: code 319651
Constitutional mismatch repairdeficiency syndrome
: code 252202
Constriction rings syndrome
: code 295000
Constrictive bronchiolitis
: code 1303
Contiguous ABCD1 DXS1357Edeletion syndrome
: code 369942
Continuous muscle fiber activitysyndrome
: code 84142
Continuous spikes and wavesduring sleep
: code 725
Continuous spikes and wavesduring slow-wave sleep
: code 725
Contractures-developmental delay-Pierre Robin syndrome
: code 436003
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
: code 1484
Contractures-webbed neck- micrognathia-hypoplastic nipplessyndrome
: code 314002
Cooks syndrome
: code 1487
Cooley anemia
: code 231214
Cooper-Jabs syndrome
: code 1488
COP
: code 1302
COPA syndrome
: code 444092
CoPAN
: code 397725
Copenhagen syndrome
: code 2062
Coppock-like cataract
: code 98984
COQ4-related neonatalencephalomyopathy
: code 457185
Cor triatriatum dexter
: code 99098
Cor triatriatum dextrum
: code 99098
Cor triatriatum sinister
: code 99099
Cor triatriatum sinistrum
: code 99099
Coralliform cataract
: code 98990
Cordiform uterus
: code 180118
Cori disease
: code 366
Cori-Forbes disease
: code 366
Corneal anesthesia-deafness-intellectual disability syndrome
: code 1051
Corneal dystrophy epithelial-shortstature syndrome
: code 1661
Corneal dystrophy Groenouw type I
: code 98962
Corneal dystrophy Groenouw typeII
: code 98969
Corneal dystrophy of Bowman layertype 1
: code 98961
Corneal dystrophy of Bowman layertype 2
: code 98960
Corneal dystrophy of Bowman layertype I
: code 98961
Corneal dystrophy of Bowman layertype II
: code 98960
Corneal dystrophy with progressivedeafness
: code 1490
Corneal dystrophy-perceptivedeafness syndrome
: code 1490
Corneal intraepithelialdyskeratosis-palmoplantar
: code 352662
Corneal-cerebellar syndrome
: code 3177
Cornelia de Lange syndrome
: code 199
Corneodermatoosseous syndrome
: code 3194
Coronaro-cardiac fistula
: code 2041
Coronary arterial fistulas
: code 2041
Coronary arterial malformations
: code 2041
Coronary artery intramyocardialcourse
: code 99085
Coronary ostial stenosis or atresia
: code 99087
Coronary sinus atresia
: code 99118
Coronary sinus stenosis
: code 99117
Corpus callosum agenesis-abnormalgenitalia syndrome
: code 2508
Corpus callosum agenesis- blepharophimosis-Robin sequencesyndrome
: code 3338
Corpus callosum agenesis-cataract-immunodeficiency syndrome
: code 1493
Corpus callosum agenesis- intellectual disability-coloboma-micrognathia syndrome
: code 52055
Corpus callosum agenesis- macrocephaly-hypertelorismsyndrome
: code 459074
Corpus callosum agenesis-neuronopathy syndrome
: code 1496
Corpus callosum agenesis-polysyndactyly syndrome
: code 1553
Corpus callosum dysgenesis-hypopituitarism syndrome
: code 3157
Corpus callosum hypoplasia- retardation-adducted thumbs-spasticity-hydrocephalus syndrome
: code 275543
CORS
: code 2318
Cortical blindness-intellectualdisability-polydactyly syndrome
: code 1389
Cortical dysgenesis with pontocerebellar hypoplasia due toTUBB3 mutation
: code 300570
Cortical dysplasia Taylor type
: code 268994
Cortical dysplasia-focal epilepsysyndrome
: code 163681
Cortical hyperostosis-syndactylysyndrome
: code 3152
Cortical visual impairment
: code 447788
Corticobasal syndrome
: code 454887
Corticosteroid-binding globulindeficiency
: code 199247
Corticosteroid-sensitive asepticabscess syndrome
: code 54251
Corticosterone methyloxidasedeficiency type I
: code 99763
Corticotroph pituitary adenoma
: code 96253
Cosack syndrome
: code 141163
Costeff optic atrophy syndrome
: code 67047
Costeff syndrome
: code 67047
Costello syndrome
: code 3071
Costovertebral segmentationdefect-mesomelia syndrome
: code 1507
Cousin syndrome
: code 93333
COVESDEM syndrome
: code 1507
Cowchock syndrome
: code 101078
Cowden disease
: code 201
Cowden syndrome
: code 201
Cow’s milk hypersensitivity
: code 99932
COX deficiency French-Canadiantype
: code 70472
Coxiellosis
: code 781
Coxoauricular syndrome
: code 1508
Coxopodopatellar syndrome
: code 1509
COXPD2
: code 254920
COXPD4
: code 254925
COXPD5
: code 137908
COXPD7
: code 254930
COXPD8
: code 319504
COXPD9
: code 319509
COXPD10
: code 314637
COXPD11
: code 324535
COXPD12
: code 314051
COXPD13
: code 319514
COXPD14
: code 319519
COXPD15
: code 319524
COXPD16
: code 352563
COXPD17
: code 369913
COXPD20
: code 420728
COXPD21
: code 420733
COXPD23
: code 444013
COXPD24
: code 444458
COXPD25
: code 447954
COXPD26
: code 477684
COXPD27
: code 477774
COXPD28
: code 466784
COXPD29
: code 478029
COXPD30
: code 478042
CPAM
: code 2444
CPAM type 0
: code 280827
CPAM type 1
: code 280832
CPAM type 2
: code 280840
CPAM type 3
: code 280847
CPAM type 4
: code 280854
CPD IV
: code 475
CPFE
: code 300564
CPI
: code 91359
CPLS syndrome
: code 2016
CPP
: code 2807
CPP
: code 759
CPS1 deficiency
: code 147
CPS1D
: code 147
CPT1A deficiency
: code 156
CPT2
: code 157
CPT2 adult-onset form
: code 228302
CPT2 hepatocardiomuscular form
: code 228305
CPT2 lethal systemic form
: code 228308
CPT2 myopathic form
: code 228302
CPT2 neonatal form
: code 228308
CPT2 severe infantile form
: code 228305
CPTII
: code 157
CPTII adult-onset form
: code 228302
CPTII hepatocardiomuscular form
: code 228305
CPTII lethal systemic form
: code 228308
CPTII myopathic form
: code 228302
CPTII neonatal form
: code 228308
CPTII severe infantile form
: code 228305
CPVT
: code 3286
CPXD
: code 35173
Cramer-Niederdellmann syndrome
: code 2081
Crandall syndrome
: code 202
Crane-Heise syndrome
: code 1512
Cranial dural arteriovenous fistula
: code 97339
Cranial dural arteriovenousmalformations
: code 97339
Cranial meningocele
: code 268820
Cranial variant of GBS
: code 98919
Cranial variant of Guillain-Barrsyndrome
: code 98919
Cranio-cervical dystonia with laryngeal and upper-limbinvolvement
: code 420485
Cranio-facio-digito-genitalsyndrome
: code 2115
Cranio-osteoarthropathy
: code 1525
Craniocarpotarsal dysplasia
: code 2053
Craniocarpotarsal dystrophy
: code 2053
Craniocerebellocardiac dysplasia
: code 7
Craniodiaphyseal dysplasia
: code 1513
Craniodigital-intellectual disabilitysyndrome
: code 1514
Cranioectodermal dysplasia
: code 1515
Craniofacial conodysplasia
: code 85168
Craniofacial duplication
: code 1681
Craniofacial dysmorphism- coloboma-corpus callosum agenesissyndrome
: code 1777
Craniofacial dysmorphism-skeletal anomalies-intellectual disabilitysyndrome
: code 1394
Craniofacial dysostosis-diaphysealhyperplasia syndrome
: code 1798
Craniofacial dysostosis-genital dental cardiac anomalies syndrome
: code 2095
Craniofacial dysplasia-osteopeniasyndrome
: code 314555
Craniofacial dysplasia-short stature-
: code 459061
Craniofacial dyssynostosis
: code 1516
Craniofacial-deafness-handsyndrome
: code 1529
Craniofacial-ulnar-renal syndrome
: code 293843
Craniofaciofrontodigital syndrome
: code 363705
Craniofrontonasal dysplasia
: code 1520
Craniofrontonasal dysplasia withalopecia and hypogonadism
: code 228390
Craniofrontonasal dysplasia Teebitype
: code 1519
Craniofrontonasal dysplasia-Polandanomaly syndrome
: code 1521
Craniofrontonasal syndrome
: code 1520
Craniolenticulosutural dysplasia
: code 50814
Craniometadiaphyseal dysplasia wormian bone type
: code 85184
Craniometaphyseal dysplasia
: code 1522
Craniomicromelic syndrome
: code 1524
Craniopharyngioma
: code 54595
Craniorachischisis
: code 63260
Craniorhiny
: code 157832
Craniosynostosis Boston type
: code 1541
Craniosynostosis Herrmann-Opitztype
: code 2145
Craniosynostosis Philadelphia type
: code 1527
Craniosynostosis Warman type
: code 1541
Craniosynostosis-alopecia-braindefect syndrome
: code 1532
Craniosynostosis-anal anomalies-porokeratosis syndrome
: code 85199
Craniosynostosis-cataractsyndrome
: code 1530
Craniosynostosis-congenital heartdisease-intellectual disability syndrome
: code 2872
Craniosynostosis-Dandy-Walker malformation-hydrocephalussyndrome
: code 1538
Craniosynostosis-dental anomalies
: code 284149
Craniosynostosis-dysmorphism-brachydactyly syndrome
: code 53271
Craniosynostosis-fibular aplasiasyndrome
: code 1533
Craniosynostosis-hydrocephalus- Arnold-Chiari malformation type I-radioulnar synostosis syndrome
: code 171839
Craniosynostosis-intracranialcalcifications syndrome
: code 52054
Craniosynostosis-midfacialhypoplasia-foot abnormalities syndrome
: code 1540
Craniotelencephalic dysplasia
: code 1528
Cranofacial dysostosis-
: code 2095
CRAPB
: code 75373
CRASH syndrome
: code 275543
CRBM
: code 184
CRD
: code 71
Creatine transporter deficiency
: code 52503
Cree leukoencephalopathy
: code 99854
Creeping myiasis
: code 504
Crescentic glomerulonephritis
: code 280569
CREST syndrome
: code 90290
Cri du chat syndrome
: code 281
CRIE
: code 281190
Crigler-Najjar syndrome
: code 205
Crigler-Najjar syndrome type 1
: code 79234
Crigler-Najjar syndrome type 2
: code 79235
Crimean hemorrhagic fever
: code 99827
Crimean-Congo hemorrhagic fever
: code 99827
CRION
: code 499085
Crisponi syndrome
: code 1545
Criss-cross atrioventricularrelationships
: code 1461
Criss-cross heart
: code 1461
Criswick-Schepens syndrome
: code 891
CRMCC
: code 313838
Crome syndrome
: code 1380
Cronkhite-Canada syndrome
: code 2930
Cross syndrome
: code 2719
Crossed polysyndactyly
: code 2935
Croupous bronchitis
: code 439881
Crouzon craniofacial dysostosis
: code 207
Crouzon disease
: code 207
Crouzon syndrome-acanthosisnigricans syndrome
: code 93262
Crouzon-dermoskeletal syndrome
: code 93262
Crow-Fukase syndrome
: code 2905
CRS
: code 290
CRV
: code 247691
CRVO
: code 411527
Cryoglobulinemia type 1
: code 91139
Cryoglobulinemic vasculitis
: code 91138
Cryptococcosis
: code 1546
Cryptogenic fibrosing alveolitis
: code 2032
Cryptogenic late-onset epilepticspasms
: code 163708
Cryptogenic multifocal ulcerousstenosing enteritis
: code 468635
Cryptogenic organizing pneumonia
: code 1302
Cryptomicrotia-brachydactylysyndrome
: code 1547
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
: code 1547
Cryptophthalmos-syndactylysyndrome
: code 2052
Cryptorchidism-arachnodactyly-intellectual disability syndrome
: code 1548
Cryptosporidiosis
: code 1549
Cryptosporidiosis-chroniccholangitis-liver disease syndrome
: code 357329
Crystalline stromal dystrophy
: code 98967
CSCD
: code 101068
CSCR
: code 443079
CSID
: code 35122
CSID with minimal starch tolerance
: code 306446
CSID with starch and lactoseintolerance
: code 306474
CSID with starch intolerance
: code 306436
CSID without starch intolerance
: code 306462
CSID without sucrose intolerance
: code 306486
CSS
: code 1465
CST3-related amyloidosis
: code 100008
CSVT
: code 329217
CSWS
: code 725
CSWSS syndrome
: code 725
CTEPH
: code 70591
CTLA-4 haploinsufficiency withautoimmune infiltration disease
: code 436159
CTLN1
: code 247525
CTLN2
: code 247585
CTX
: code 909
CUD
: code 158
Culler-Jones syndrome
: code 420584
Curatolo-Cilio-Pessagno syndrome
: code 3207
Curly fiber corneal dystrophy
: code 98960
Curly hair-acral keratoderma-cariessyndrome
: code 307766
Curly hair-ankyloblepharon-naildysplasia syndrome
: code 1071
Currarino disease
: code 1525
Currarino idiopathicosteoarthropathy
: code 1525
Currarino syndrome
: code 1552
Currarino triad
: code 1552
Current pressure-sensitiveneuropathy
: code 640
Curry-Hall syndrome
: code 952
Curry-Jones syndrome
: code 1553
Cushing disease
: code 96253
Cushing syndrome due to ectopicACTH secretion
: code 99889
Cushing syndrome due tomacronodular adrenal hyperplasia
: code 189427
Cutaneomeningospinalangiomatosis
: code 53721
Cutaneous and mucosal venousmalformation
: code 2451
Cutaneous collagenousvasculopathy
: code 280779
Cutaneous hemangioma with
: code 329324
Cutaneous hypersensitivityvasculitis
: code 889
Cutaneous infectious botulism
: code 178475
Cutaneous larva migrans
: code 423717
Cutaneous leukocytoclastic angiitis
: code 889
Cutaneous leukocytoclasticvasculitis
: code 889
Cutaneous local mastocytoma
: code 79455
Cutaneous lymphangiomacircumscriptum
: code 79490
Cutaneous mastocytoma
: code 79455
Cutaneous mucinosis of infancy
: code 90395
Cutaneous neuroendocrinecarcinoma
: code 79140
Cutaneous PAN
: code 439729
Cutaneous periarteritis nodosa
: code 439729
Cutaneous photosensitivity-lethalcolitis syndrome
: code 2881
Cutaneous polyarteritis nodosa
: code 439729
Cutaneous pseudolymphoma
: code 451607
Cutaneous small vessel vasculitis
: code 889
Cutaneous toxin-mediated botulism
: code 178475
Cutaneovisceral angiomatosis-thrombocytopenia syndrome
: code 464321
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
: code 1555
Cutis laxa acquisita
: code 228285
Cutis laxa with severe pulmonary gastrointestinal and urinaryanomalies
: code 221145
Cutis laxa-corneal clouding-intellectual disability syndrome
: code 2962
Cutis laxa-Marfanoid syndrome
: code 171719
Cutis marmorata telangiectaticacongenita
: code 1556
Cutis verticis gyrata-intellectualdisability syndrome
: code 357225
Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafnesssyndrome
: code 357225
Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearingloss syndrome
: code 357225
Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafnesssyndrome
: code 357225
Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearingloss syndrome
: code 357225
Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome
: code 357225
Cutler-Bass-Romshe syndrome
: code 3327
CVID
: code 1572
Cyanide poisoning
: code 466670
Cyanide-induced parkinsonism
: code 306692
Cyclic neutropenia
: code 2686
Cyclosporine-inducedfolliculodystrophy
: code 228379
Cyclosporosis
: code 210
CYLD cutaneous syndrome
: code 79493
Cylindrical spirals myopathy
: code 171886
CYP11B1 deficiency
: code 90795
Cyprus facial-neuromusculoskeletalsyndrome
: code 2674
Cystathionase deficiency
: code 212
Cystathione gamma-lyasedeficiency syndrome
: code 212
Cystathionine beta-synthasedeficiency
: code 394
Cystathioninuria
: code 212
Cystatin amyloidosis
: code 100008
Cystic echinococcosis
: code 400
Cystic fibrosis
: code 586
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
: code 2575
Cystic hamartoma of lung andkidney
: code 2111
Cystic hygroma
: code 79486
Cystic leukoencephalopathywithout megalencephaly
: code 85136
Cystic medial necrosis of aorta
: code 229
Cysticercosis
: code 1560
Cystinosis
: code 213
Cystinuria
: code 214
Cystinuria type A
: code 93612
Cystinuria type B
: code 93613
Cystinuria-lysinuria syndrome
: code 214
Cystoid macular dystrophy
: code 75381
Cystoisosporiasis
: code 472
Cystosarcoma phyllodes of thebreast
: code 180261
Cystosarcoma phyllodes of theprostate
: code 498228
Cytochrome C oxidase deficiency French-Canadian type
: code 70472
Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type
: code 70472
Cytomegalic congenital adrenalhypoplasia
: code 95702
Cytomegalovirus disease in patients with impaired cell mediatedimmunity deemed at risk
: code 137698
Cytophagic histiocytic panniculitis
: code 94087
Cytosolic phospholipase-A2 alpha deficiency associated bleedingdisorder
: code 477787
Czech dysplasia metatarsal type
: code 137678
Czeizel syndrome
: code 2736
Czeizel-Brooser syndrome
: code 2917
Czeizel-Losonci syndrome
: code 2437
D+HUS
: code 90038
D L-2-HGA
: code 356978
D L-2-hydroxyglutaric acidemia
: code 356978
D L-2-hydroxyglutaric aciduria
: code 356978
D-2-HGA
: code 79315
D-2-hydroxyglutaric acidemia
: code 79315
D-2-hydroxyglutaric aciduria
: code 79315
D-glycerate dehydrogenasedeficiency
: code 93599
D-glycerate kinase deficiency
: code 941
D-glyceric acidemia
: code 941
D-glyceric aciduria
: code 941
D-HUS
: code 2134
D-HUS with anti-factor H antibodies
: code 93581
D-HUS with B factor anomaly
: code 93578
D-HUS with C3 anomaly
: code 93575
D-HUS with DGKE deficiency
: code 357008
D-HUS with H factor anomaly
: code 93579
D-HUS with I factor anomaly
: code 93580
D-HUS with MCP/CD46 anomaly
: code 93576
D-HUS with thrombomodulinanomaly
: code 217023
DA1
: code 1146
DA1A
: code 1146
DA5D
: code 329457
Da Silva syndrome
: code 1495
DA10
: code 251515
Dabska tumor
: code 458768
Dacryocele
: code 141083
Dacryocystitis-osteopoikilosissyndrome
: code 1562
Dacryocystocele
: code 141083
Daentl-Townsend-Siegel syndrome
: code 2186
Dahlberg syndrome
: code 1563
Dahlberg-Borer-Newcomersyndrome
: code 1563
Daish-Hardman-Lamont syndrome
: code 2181
DALD
: code 275523
Dancing eye syndrome
: code 1183
Dancing eye-dancing feet syndrome
: code 1183
Dandy-Walker malformation-facialhemangioma syndrome
: code 42775
Dandy-Walker malformation-postaxial polydactyly syndrome
: code 1566
Daneman-Davy-Mancer syndrome
: code 2091
Danon disease
: code 34587
Dappled diaphyseal dysplasia
: code 1426
Darier disease
: code 218
Darier-Gottron disease
: code 316
Darier-White disease
: code 218
Darling disease
: code 390
DAVID syndrome
: code 293978
Davies disease
: code 75565
Dawson’s encephalitis
: code 2806
DBQD
: code 1425
DBS/FOAR syndrome
: code 2143
DC
: code 1775
DCM
: code 79456
DCMA syndrome
: code 66634
DCMD
: code 75381
DD
: code 1653
DD-I
: code 99789
DD-II
: code 99791
DDEB Cockayne-Touraine type
: code 231568
DDEB generalized
: code 231568
DDEB Pasini and Cockayne-Touraine types
: code 231568
DDEB Pasini type
: code 231568
DDEB-gen
: code 231568
DDLS
: code 99970
DDOD syndrome
: code 79499
DDON syndrome
: code 52368
DDOST-CDG
: code 300536
DDX41-related hematologic malignancy predispositionsyndrome
: code 488647
De Barsy syndrome
: code 2962
De Die-Smulders-Vles-Frynssyndrome
: code 1130
De Grouchy syndrome
: code 1598
De Hauwere syndrome
: code 782
De Hauwere-Chitty syndrome
: code 782
De la Chapelle dysplasia
: code 56304
De la Chapelle syndrome
: code 393
De Morsier syndrome
: code 3157
De Sanctis-Cacchione syndrome
: code 910
De Smet-Fabry-Fryns syndrome
: code 1570
De Vaal disease
: code 33355
De Vivo disease
: code 71277
Deaf blind hypopigmentationsyndrome Yemenite type
: code 3214
Deafness with labyrinthine aplasia microtia and microdontia
: code 90024
Deafness-cataract-skeletalanomalies syndrome
: code 2663
Deafness-craniofacial syndrome
: code 3241
Deafness-dystonia-opticneuronopathy syndrome
: code 52368
Deafness-ear malformation-facialpalsy syndrome
: code 3232
Deafness-enamel hypoplasia-naildefects syndrome
: code 3220
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
: code 254898
Deafness-epiphyseal dysplasia-short stature syndrome
: code 3218
Deafness-genital anomalies-metacarpal and metatarsal
: code 3224
Deafness-Hermann typesymphalangism syndrome
: code 3237
Deafness-hypogonadism syndrome
: code 90646
Deafness-infertility syndrome
: code 94064
Deafness-intellectual disabilitysyndrome Martin-Probst type
: code 85321
Deafness-lymphedema-leukemiasyndrome
: code 3226
Deafness-nephritis-ano-rectalmalformation syndrome
: code 2408
Deafness-oligodontia syndrome
: code 3230
Deafness-onychodystrophy- osteodystrophy-intellectualdisability syndrome
: code 79500
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
: code 79500
Deafness-onychoosteodystrophy-intellectual disability syndrome
: code 79500
Deafness-opticoacoustic nerveatrophy-dementia syndrome
: code 52368
Deafness-pili torti-hypogonadismsyndrome
: code 123
Deafness-skeletal dysplasia-coarseface with full lips syndrome
: code 3219
Deafness-skeletal dysplasia-lipgranuloma syndrome
: code 3219
Deafness-small boweldiverticulosis-neuropathy syndrome
: code 3217
Deafness-thyroid hormoneresistance syndrome
: code 3221
Deafness-vitiligo-achalasiasyndrome
: code 3239
Deal-Barrat-Dillon syndrome
: code 2697
DEB bullous dermolysis of thenewborn
: code 79411
DEB pruriginosa
: code 89843
DEB-BDN
: code 79411
DEB-Pr
: code 89843
DEB-Pt
: code 79410
DECR deficiency withhyperlysinemia
: code 431361
Dedifferentiated liposarcoma
: code 99970
Deep dermatophytosis
: code 397587
Defective adenosine triphosphate-binding cassette transporter A1
: code 31150
Defective biosynthesis ofproteodermatan sulfate
: code 75496
Deficiency in Alpa-1-proteinaseinhibitor
: code 60
Deficiency in anterior pituitary function-variable immunodeficiencysyndrome
: code 293978
Deficiency of IL-36R antagonist
: code 404546
Deficiency of IL-36Ra
: code 404546
Deficiency of plasma-membranecarnitine transporter
: code 158
Degner syndrome
: code 141330
Degos disease
: code 679
Degos genodermatosis “encocardes”
: code 315
Dehydrated hereditarystomatocytosis
: code 3202
Dejerine-Sottas syndrome
: code 64748
Dekaban-Arima syndrome
: code 2318
Del (5)(q35)
: code 1627
Del (5)(qter)
: code 1627
Del(1)(p31p32)
: code 401986
Del(1)(p35.2)
: code 456298
Del(1)(p36)
: code 1606
Del(1)(q21)
: code 250989
Del(1)(q41q42)
: code 250999
Del(1)(q44)
: code 238769
Del(1)p(21.3)
: code 293948
Del(2)(p13.2)
: code 363680
Del(2)(p15p16.1)
: code 261349
Del(2)(p21)
: code 163693
Del(2)(p21) without cystinuria
: code 369881
Del(2)(q23.1)
: code 228402
Del(2)(q24)
: code 1617
Del(2)(q31.1)
: code 251014
Del(2)(q32)
: code 251019
Del(2)(q32q33)
: code 251019
Del(2)(q33.1)
: code 251028
Del(2)(q37)
: code 1001
Del(3)(q13)
: code 1621
Del(3)(q26q27)
: code 356947
Del(3)(q27.3)
: code 397695
Del(3)(q29)
: code 65286
Del(3)p(25.3)
: code 435638
Del(4)(q21)
: code 238750
Del(5)(q14.3)
: code 228384
Del(5)(q31.3)
: code 314655
Del(6)(p22)
: code 251046
Del(6)(q16)
: code 171829
Del(6)(q25)
: code 251056
Del(7)(q31)
: code 251061
Del(8)(p11.2)
: code 251066
Del(8)(p23.1)
: code 251071
Del(8)(q21.11)
: code 284160
Del(8)(q24.3)
: code 508488
Del(8)q(13)
: code 2496
Del(9)(p13)
: code 324313
Del(9)(q21)
: code 352665
Del(9)(q31.1q31.3)
: code 401923
Del(9)(q33.3q34.11)
: code 495818
Del(10)(p11.21p12.31)
: code 284169
Del(10)(q22.3q23.3)
: code 276413
Del(11)(p13)
: code 893
Del(11)(q22.2q22.3)
: code 444002
Del(11)(q23.3)
: code 2308
Del(11)(qter)
: code 2308
Del(12)(p12.1)
: code 313884
Del(12)(p13.33)
: code 280325
Del(12)(q14)
: code 94063
Del(12)(q15)(q21.1)
: code 289513
Del(13)(q12.3)
: code 412035
Del(13)(q14)
: code 1587
Del(13)(q34)
: code 96168
Del(14)(q11.2)
: code 261120
Del(14)(q12)
: code 261144
Del(14)(q22q23)
: code 264200
Del(14)(q24.1q24.3)
: code 401935
Del(15)(q11.2)
: code 261183
Del(15)(q13.3)
: code 199318
Del(15)(q14)
: code 261190
Del(15)(q24)
: code 94065
Del(16)(p11.2p12.2)
: code 261211
Del(16)(p13.11)
: code 261236
Del(16)(p13.2)
: code 500055
Del(16)(q24.1)
: code 352629
Del(16)(q24.3)
: code 261250
Del(17)(q11)
: code 97685
Del(17)(q12)
: code 261265
Del(17)(q21.31)
: code 363958
Del(17)(q23.1q23.2)
: code 261279
Del(19)(p13.12)
: code 254346
Del(19)(p13.13)
: code 357001
Del(19)(q13.11)
: code 217346
Del(20)(p12.3)
: code 261295
Del(20)(p13)
: code 313781
Del(20)(q11.2)
: code 444051
Del(20)(q13.33)
: code 261311
Del(21)(q22.11q22.12)
: code 261323
Del(21)(q22.13q22.2)
: code 268261
Del(22)
: code 96123
Del(X)(p21)
: code 261476
Del(X)(p23)
: code 1643
Delayed membranous cranialossification
: code 3034
Delayed speech-facial asymmetry- strabismus-ear lobe creasessyndrome
: code 3038
Deletion 1p35.2
: code 456298
Deletion 1p36
: code 1606
Deletion 1pter
: code 1606
Deletion 2q37
: code 1001
Deletion 2q37-qter
: code 1001
Deletion 5p
: code 281
Deletion 5q35
: code 1627
Deletion 7q11.23
: code 904
Deletion 8q21.11
: code 284160
Deletion 8q24.1
: code 502
Deletion 8q24.3
: code 508488
Deletion 9q33.3q34.11
: code 495818
Deletion 10p11.21p12.31
: code 284169
Deletion 10q22.3q23.3
: code 276413
Deletion 11p13
: code 893
Deletion 12q14
: code 94063
Deletion 12q15q21.1
: code 289513
Deletion 13q14
: code 1587
Deletion 13q32
: code 1590
Deletion 18q
: code 1600
Deletion 22
: code 96123
Delleman syndrome
: code 1647
Delleman-Oorthuys syndrome
: code 1647
Delta1-pyrroline-5-carboxylatedehydrogenase deficiency
: code 79101
Delta-1-pyrroline 5-carboxylatesynthetase deficiency
: code 35664
Delta-beta-thalassemia
: code 231237
Delta-sarcoglycanopathy
: code 219
Dementia infantilis
: code 168782
Dementia pugilistica
: code 97353
Demodicidosis
: code 283
Demodicosis
: code 283
Demons-Meigs syndrome
: code 314451
DEND syndrome
: code 79134
Dendritic cell sarcoma nototherwise specified
: code 86903
Dendritic cell monocyte B and NKlymphoid deficiency
: code 228423
Dengue fever
: code 99828
Dengue virus infection
: code 99828
Dennis-Fairhurst-Moore syndrome
: code 2109
Dense deposit disease
: code 93571
Dent disease
: code 1652
Dent disease type 1
: code 93622
Dent disease type 2
: code 93623
Dent syndrome
: code 1652
Dental and eye anomalies-patent ductus arteriosus-normalintelligence syndrome
: code 2095
Dental ankylosis
: code 1077
Dentatorubral pallidoluysianatrophy
: code 101
Dentatorubropallidoluysianatrophy
: code 101
Dentin dysplasia
: code 1653
Dentin dysplasia type 1 withmicrodontia and shape anomalies
: code 314721
Dentin dysplasia type I
: code 99789
Dentin dysplasia type II
: code 99791
Dentin dysplasia-sclerotic bonessyndrome
: code 99792
Dentinogenesis imperfecta
: code 49042
Dentinogenesis imperfecta type 2
: code 166260
Dentinogenesis imperfecta type 3
: code 166265
Dentinogenesis imperfecta withoutosteogenesis imperfecta
: code 49042
Dentinogenesis imperfecta Shieldstype 2
: code 166260
Dentinogenesis imperfecta Shieldstype 3
: code 166265
Dentinogenesis imperfecta-short stature-hearing loss-intellectualdisability syndrome
: code 71267
Dentoleukoencephalopathy
: code 77295
Denys-Drash syndrome
: code 220
Der Kaloustian-Jarudi-Khourysyndrome
: code 3177
Der Kaloustian-McIntosh-Silversyndrome
: code 3270
Der(8)t(8;12)
: code 369950
Der(22)t(11;22) syndrome
: code 96170
Dercum disease
: code 36397
Dermatitis herpetiformis
: code 1656
Dermato-cardio-skeletal syndrome Borrone type
: code 137834
Dermatofibrosarcoma protuberans
: code 31112
Dermatoleukodystrophy
: code 1659
Dermatomyositis
: code 221
Dermatoosteolysis Kirghizian type
: code 1657
Dermatopathia pigmentosareticularis
: code 86920
Dermatostomatitis StevensJohnson type
: code 36426
Dermochondrocorneal dystrophy
: code 79149
Dermoid cyst of the face
: code 141051
Dermoid cyst of the neck
: code 141046
Dermoodontodysplasia
: code 1660
Dermotrichic syndrome
: code 99688
DES embryofetopathy
: code 1916
DES syndrome
: code 1916
Desbuquois dysplasia
: code 1425
Desbuquois syndrome
: code 1425
DESC syndrome
: code 163703
Desert fever
: code 228123
Desert rheumatism
: code 228123
Desmin-related myofibrillarmyopathy
: code 98909
Desmin-related myopathy withMallory body-like inclusions
: code 84132
Desminopathy
: code 98909
Desmoid tumor
: code 873
Desmoid type fibromatosis
: code 873
Desmoplastic infantileastrocytoma/ganglioglioma
: code 251940
Desmoplastic small round celltumor
: code 83469
Desmoplastic/nodularmedulloblastoma
: code 251863
Desmosterolosis
: code 35107
Desquamative interstitialpneumonia
: code 98852
Destombes-Rosa-Dorfman disease
: code 158014
Devastating epileptic encephalopathy in school-agedchildren
: code 163703
Developmental and speech delaydue to SOX5 deficiency
: code 313892
Developmental delay due to 2- methylbutyryl-CoA dehydrogenasedeficiency
: code 79157
Developmental delay due toALDH6A1 deficiency
: code 289307
Developmental delay due to methylmalonate semialdehydedehydrogenase deficiency
: code 289307
Developmental delay due toMMSDH deficiency
: code 289307
Developmental delay with ASD andgait instability
: code 329195
Developmental delay with autism spectrum disorder and gaitinstability
: code 329195
Developmental delay-deafnesssyndrome Hildebrand type
: code 163988
Developmental delay-epilepsy-neonatal diabetes syndrome
: code 79134
Developmental delay-epilepsy- neonatal diabetes syndrome intermediate form
: code 99989
Developmental delay-hypotonia-extremities hypertrophy syndrome
: code 2101
Developmental delay-short stature- dysmorphic features-sparse hairsyndrome
: code 459061
Developmental malformations-deafness-dystonia syndrome
: code 79107
Developmental verbal dyspraxia
: code 209908
Devic disease
: code 71211
Devriendt-Legius-Fryns syndrome
: code 3464
Devriendt-Vandenberghe-Frynssyndrome
: code 1014
Dexamethasone-sensitivehypertension
: code 403
Dextrocardia
: code 1666
Dextrocardia-bronchiectasis-sinusitis syndrome
: code 244
DF
: code 99828
DFNX2
: code 383
DFSP
: code 31112
DGI
: code 49042
DGI without OI
: code 49042
DGI-2
: code 166260
DGSX
: code 373
DHFR deficiency
: code 319651
dHMN1
: code 139518
dHMN2
: code 139525
dHMN3 and dHMN4
: code 139547
dHMN5
: code 139536
dHMN6
: code 98920
dHMN7
: code 139589
dHMN with upper motor neuronsigns
: code 357043
dHMNJ
: code 139552
DHRD
: code 75376
DI
: code 49042
di Sala syndrome
: code 1914
DI-2
: code 166260
DIA/DIG
: code 251940
Diabetes insipidus-diabetes mellitus-optic atrophy-deafnesssyndrome
: code 3463
Diabetes-hypogonadism-deafness-intellectual disability syndrome
: code 3464
Diabetic embryopathy
: code 1926
Dialysis-related amyloidosis
: code 85446
Dialysis-related arthropathy
: code 85446
Dianzani autoimmunelymphoproliferative disease
: code 275523
DIAPH1-related sensorineural deafness-thrombocytopeniasyndrome
: code 494444
DIAPH1-related sensorineural hearing loss-thrombocytopeniasyndrome
: code 494444
Diaphanospondylodysostosis
: code 66637
Diaphorase deficiency
: code 255182
Diaphragmatic defect-limbdeficiency-skull defect syndrome
: code 2141
Diaphragmatic hernia-abnormalface-distal limb anomalies syndrome
: code 2059
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
: code 2143
Diaphragmatic hernia- hypertelorism-myopia-deafnesssyndrome
: code 2143
Diaphragmatic spinal muscularatrophy
: code 98920
Diaphragmatic spinal muscularatrophy type 2
: code 404521
Diaphyseal dysplasia-anemiasyndrome
: code 1802
Diaphyseal medullary stenosis-bone malignancy syndrome
: code 85182
Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
: code 85182
Diarrheogenic islet cell tumor
: code 97282
Diastematomyelia
: code 1671
Diastrophic dwarfism
: code 628
Diastrophic dysplasia
: code 628
Diazoxide-resistant focal hyperinsulinism due to Kir6.2deficiency
: code 276603
Diazoxide-resistant focal hyperinsulinism due to SUR1deficiency
: code 276598
Dicarboxylic aminoaciduria
: code 2195
DICER1 syndrome
: code 284343
Didelphys uterus
: code 180086
DIDMOAD syndrome
: code 3463
Didymosis aplasticosebacea
: code 370046
Diencephalic cachexia
: code 1672
Diencephalic syndrome
: code 1672
Diencephalic syndrome ofchildhood
: code 1672
Diencephalic syndrome ofemaciation
: code 1672
Diencephalic-mesencephalicjunction dysplasia
: code 319192
Diethylstilbestrol embryofetopathy
: code 1916
Diethylstilbestrol syndrome
: code 1916
Differentiated thyroid carcinoma
: code 146
Diffuse alveolar hemorrhage
: code 90060
Diffuse angiokeratoma
: code 324
Diffuse astrocytoma
: code 251595
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
: code 404437
Diffuse cutaneous maculopapulousmastocytosis
: code 79456
Diffuse cutaneous mastocytosis
: code 79456
Diffuse cutaneous systemicscleroderma
: code 220393
Diffuse cutaneous systemicsclerosis
: code 220393
Diffuse erythrodermic palmoplantar keratoderma Voernertype
: code 2199
Diffuse erythrodermic palmoplantar keratoderma Vrnertype
: code 2199
Diffuse familial brain sclerosis
: code 702
Diffuse fasciitis with eosinophilia
: code 3165
Diffuse intrinsic pontine glioma
: code 497188
Diffuse large B-cell lymphoma ofthe central nervous system
: code 300849
Diffuse large B-cell lymphoma withchronic inflammation
: code 300888
Diffuse leptomeningealmelanocytosis
: code 252031
Diffuse lymphangioma
: code 141209
Diffuse lymphangiomatosis
: code 141209
Diffuse lymphatic malformation
: code 141209
Diffuse malignant peritonealmesothelioma
: code 168811
Diffuse neonatal hemangiomatosis
: code 2123
Diffuse palmoplantar hyperkeratosis-acrocyanosissyndrome
: code 86918
Diffuse palmoplantar keratodermawith painful fissures
: code 369999
Diffuse palmoplantar keratoderma Bothnian type
: code 2337
Diffuse palmoplantar keratoderma-acrocyanosis syndrome
: code 86918
Diffuse panbronchiolitis
: code 171700
Diffuse peritoneal leiomyomatosis
: code 71274
Diffuse-type GCT
: code 66627
Diffuse-type giant cell tumor
: code 66627
DiGeorge sequence
: code 567
DiGeorge syndrome
: code 567
Digestive duplication
: code 238
Digestive duplication cyst of thetongue
: code 141071
Digital anomalies with short palpebral fissures and atresia ofesophagus or duodenum
: code 1305
Digital anomalies with shortpalpebral fissures and atresia of esophagus or duodenum type 1
: code 391641
Digital anomalies-intellectualdisability-short stature syndrome
: code 352487
Digital extensor muscle aplasia-polyneuropathy
: code 2926
Digitalis poisoning
: code 31828
Digitorenocerebral syndrome
: code 79500
Digitotalar dysmorphism
: code 1146
Digits 2-5 hypodactyly unilateral
: code 973
Digits 2-5 oligodactyly unilateral
: code 973
Dihydrofolate reductase deficiency
: code 319651
Dihydrolipoamide acetyltransferase component of pyruvatedehydrogenase complex deficiency
: code 79244
Dihydrolipoamide dehydrogenasedeficiency
: code 2394
Dihydrolipoyl dehydrogenasedeficiency
: code 255182
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complexdeficiency
: code 79244
Dihydropteridine reductasedeficiency
: code 226
Dihydropyrimidinase deficiency
: code 38874
Dihydropyrimidine dehydrogenasedeficiency
: code 1675
Dihydropyrimidinuria
: code 38874
Dilatation of the left atrialappendage
: code 99102
Dilatation of the left auricle
: code 99102
Dilatation of the right atrialappendage
: code 99101
Dilatation of the right atrial auricle
: code 99101
Dilated cardiomyopathy with ataxia
: code 66634
Dilated cardiomyopathy- hypergonadotropic hypogonadismsyndrome
: code 2229
DILE
: code 231111
Dimethylglycine dehydrogenasedeficiency
: code 243343
Dincsoy-Salih-Patel syndrome
: code 3157
Dinno syndrome
: code 314002
Dionisi-Vici-Sabetta-Gambararasyndrome
: code 1493
DIPG
: code 497188
Diphallia
: code 227
Diphtheria
: code 1679
Diphyllobothriasis
: code 128
Diprosopia
: code 1681
Diprosopus
: code 1681
Dipygus
: code 1756
DIRA
: code 210115
Dirofilariasis
: code 166291
DIS
: code 94064
Disaccharide intolerance
: code 35122
Disaccharide intolerance withminimal starch tolerance
: code 306446
Disaccharide intolerance withstarch and lactose intolerance
: code 306474
Disaccharide intolerance withstarch intolerance
: code 306436
Disaccharide intolerance withoutstarch intolerance
: code 306462
Disaccharide intolerance withoutsucrose intolerance
: code 306486
Discoid lupus erythematosus
: code 90281
Discordant ventriculoarterial andatrioventricular connections
: code 216694
Discrete fibromuscular subaorticstenosis
: code 99052
Discrete fixed membranoussubaortic stenosis
: code 99051
Discrete papular lichenmyxedematosus
: code 90394
Disease-associated transversemyelitis
: code 139420
Disembarkment syndrome
: code 210272
Dislocation of the hip-dysmorphismsyndrome
: code 2412
Disorder of sex development-intellectual disability syndrome
: code 2983
Dissecting cellulitis of the scalp
: code 345
Disseminated aseptic abscesses
: code 54251
Disseminated dermatofibrosis with
: code 1306
Disseminated granulomatousdermatophytosis
: code 397587
Disseminated lymphangioma
: code 141209
Disseminated lymphangiomatosis
: code 141209
Disseminated lymphaticmalformation
: code 141209
Disseminated nevus anelasticus
: code 228264
Disseminated peritonealleiomyomatosis
: code 71274
Disseminated superficial actinicporokeratosis
: code 79152
Distal 3p deletion
: code 1620
Distal 5q deletion
: code 1627
Distal 7q11.23 microdeletionsyndrome
: code 254351
Distal 7q11.23 microduplicationsyndrome
: code 261102
Distal 10p deletion
: code 1580
Distal 13q deletion
: code 1590
Distal 15q deletion syndrome
: code 1596
Distal 16p11.2 microdeletionsyndrome
: code 261222
Distal 17p13.1 microdeletionsyndrome
: code 319171
Distal 17p13.3 microdeletionsyndrome
: code 261257
Distal 17q deletion
: code 1597
Distal 22q11.2 microdeletionsyndrome
: code 261330
Distal 22q11.2 microduplicationsyndrome
: code 261337
Distal ABD-filaminopathy
: code 63273
Distal anoctaminopathy
: code 399096
Distal anterior compartmentmyopathy
: code 178400
Distal arthrogryposis type 1
: code 1146
Distal arthrogryposis type 2A
: code 2053
Distal arthrogryposis type 2B
: code 1147
Distal arthrogryposis type 3
: code 376
Distal arthrogryposis type 4
: code 65720
Distal arthrogryposis type 5
: code 1154
Distal arthrogryposis type 5 withoutophthalmoparesis
: code 329457
Distal arthrogryposis type 5 withoutophthalmoplegia
: code 329457
Distal arthrogryposis type 5D
: code 329457
Distal arthrogryposis type 6
: code 1144
Distal arthrogryposis type 7
: code 3377
Distal arthrogryposis type 8
: code 65743
Distal arthrogryposis type 9
: code 115
Distal arthrogryposis type 10
: code 251515
Distal arthrogryposis type IIA
: code 376
Distal arthrogryposis type IIB
: code 1154
Distal arthrogryposis type IID
: code 65720
Distal arthrogryposis withophthalmoplegia
: code 1154
Distal del(7)(q11.23)
: code 254351
Distal del(16)(p11.2)
: code 261222
Distal del(17)(p13.1)
: code 319171
Distal del(17)(p13.3 )
: code 261257
Distal del(22)(q11.2)
: code 261330
Distal deletion 1q
: code 36367
Distal deletion 4p
: code 280
Distal deletion 4q
: code 96145
Distal deletion 6p
: code 96125
Distal deletion 7p
: code 96126
Distal deletion 7q36
: code 1636
Distal deletion 9p
: code 1642
Distal deletion 10q
: code 96148
Distal deletion 11q
: code 2308
Distal deletion 12p
: code 280325
Distal deletion 12q
: code 96149
Distal deletion 13q34
: code 96168
Distal deletion 14q
: code 96150
Distal deletion 19p
: code 96129
Distal deletion 20q
: code 96152
Distal dup(7)(q11.23)
: code 261102
Distal dup(22)(q11.2)
: code 261337
Distal dup(X)q(28)
: code 293939
Distal duplication 1p36
: code 96069
Distal duplication 2p
: code 96070
Distal duplication 2q
: code 96094
Distal duplication 3p
: code 96071
Distal duplication 4p
: code 96072
Distal duplication 4q
: code 96096
Distal duplication 5q
: code 96097
Distal duplication 6p
: code 1745
Distal duplication 6q
: code 96098
Distal duplication 7p
: code 96074
Distal duplication 8q
: code 96100
Distal duplication 9q
: code 96101
Distal duplication 10q
: code 96102
Distal duplication 11q
: code 96103
Distal duplication 13q
: code 96105
Distal duplication 14q
: code 1705
Distal duplication 15q
: code 1707
Distal duplication 16p
: code 96078
Distal duplication 16q
: code 96106
Distal duplication 17q
: code 3379
Distal duplication 18q
: code 1716
Distal duplication 19q
: code 1717
Distal duplication 20q
: code 96107
Distal duplication 22q
: code 96109
Distal duplication Xq
: code 1762
Distal hereditary motor neuropathytype 1
: code 139518
Distal hereditary motor neuropathytype 2
: code 139525
Distal hereditary motor neuropathytype 3 and type 4
: code 139547
Distal hereditary motor neuropathytype 5
: code 139536
Distal hereditary motor neuropathytype 6
: code 98920
Distal hereditary motor neuropathytype 7
: code 139589
Distal hereditary motor neuropathytype V
: code 139536
Distal hereditary motor neuropathywith upper motor neuron signs
: code 357043
Distal hereditary motorneuropathy Jerash type
: code 139552
Distal HMN V
: code 139536
Distal limb deficiencies-micrognathia syndrome
: code 1307
Distal monosomy 1q
: code 36367
Distal monosomy 3p
: code 1620
Distal monosomy 4p
: code 280
Distal monosomy 4q
: code 96145
Distal monosomy 6p
: code 96125
Distal monosomy 7p
: code 96126
Distal monosomy 7q11.23
: code 254351
Distal monosomy 7q36
: code 1636
Distal monosomy 9p
: code 1642
Distal monosomy 10p
: code 1580
Distal monosomy 10q
: code 96148
Distal monosomy 11q
: code 2308
Distal monosomy 12p
: code 280325
Distal monosomy 12q
: code 96149
Distal monosomy 13q
: code 1590
Distal monosomy 14q
: code 96150
Distal monosomy 15q
: code 1596
Distal monosomy 16p11.2
: code 261222
Distal monosomy 17p13.3
: code 261257
Distal monosomy 17q
: code 1597
Distal monosomy 19p13.3
: code 96129
Distal monosomy 20q
: code 96152
Distal monosomy 22q11.2
: code 261330
Distal myopathy type 1
: code 59135
Distal myopathy type 3
: code 399086
Distal myopathy with anterior tibialonset
: code 178400
Distal myopathy with earlyrespiratory muscle involvement
: code 34521
Distal myopathy with posterior legand anterior hand involvement
: code 63273
Distal myopathy with rimmedvacuoles
: code 602
Distal myopathy with vocal cordweakness
: code 600
Distal myopathy Nonaka type
: code 602
Distal myopathy Tateyama type
: code 488650
Distal myopathy Udd type
: code 609
Distal myopathy Welander type
: code 603
Distal myotilinopathy
: code 98911
Distal nebulin myopathy
: code 399103
Distal osteolysis-short stature-intellectual disability syndrome
: code 2776
Distal renal tubular acidosis
: code 18
Distal renal tubular acidosis type 1b
: code 402041
Distal renal tubular acidosis type 1c
: code 402041
Distal renal tubular acidosis withanemia
: code 93610
Distal spinal muscular atrophy type2
: code 139525
Distal spinal muscular atrophy type3
: code 139547
Distal spinal muscular atrophy type4
: code 206580
Distal spinal muscular atrophy type5
: code 139536
Distal spinal muscular atrophy withvocal cord paralysis
: code 139589
Distal symphalangism
: code 3248
Distal tetrasomy 15q
: code 314588
Distal titinopathy
: code 609
Distal trisomy 1p36
: code 96069
Distal trisomy 2p
: code 96070
Distal trisomy 2q
: code 96094
Distal trisomy 3p
: code 96071
Distal trisomy 4p
: code 96072
Distal trisomy 4q
: code 96096
Distal trisomy 5q
: code 96097
Distal trisomy 6p
: code 1745
Distal trisomy 6q
: code 96098
Distal trisomy 7p
: code 96074
Distal trisomy 7q11.23
: code 261102
Distal trisomy 8q
: code 96100
Distal trisomy 9q
: code 96101
Distal trisomy 10q
: code 96102
Distal trisomy 11q
: code 96103
Distal trisomy 13q
: code 96105
Distal trisomy 14q
: code 1705
Distal trisomy 15q
: code 1707
Distal trisomy 16p
: code 96078
Distal trisomy 16q
: code 96106
Distal trisomy 17q
: code 3379
Distal trisomy 18q
: code 1716
Distal trisomy 19q
: code 1717
Distal trisomy 20q
: code 96107
Distal trisomy 22q
: code 96109
Distal trisomy 22q11.2
: code 261337
Distal trisomy Xq28
: code 293939
Distal Xq28 microduplicationsyndrome
: code 293939
Distal-HMN type 6
: code 98920
Distichiasis-congenital heart
: code 33001
Distilbene embryofetopathy
: code 1916
Distomatosis
: code 1685
Distomiasis
: code 1685
DITRA
: code 404546
Divided left atrium
: code 99099
Divided right atrium
: code 99098
DK1-CDG
: code 91131
DK phocomelia syndrome
: code 3439
DKC
: code 1775
DLBCL of the CNS
: code 300849
DLBCL with chronic inflammation
: code 300888
DLD deficiency
: code 2394
DLM
: code 252031
DM1
: code 273
DMD
: code 98896
DMG dehydrogenase deficiency
: code 243343
DMGDH deficiency
: code 243343
DMRV
: code 602
DNA ligase IV deficiency
: code 99812
DNAJB2-related Charcot-Marie-Tooth disease type 2
: code 443950
DNAJB2-related CMT2
: code 443950
DNET
: code 251946
DNMT3A-related overgrowthsyndrome
: code 404443
DOA+
: code 1215
Dobrin syndrome
: code 91500
Dobrow syndrome
: code 3262
DOCK2 deficiency
: code 447737
DOCK8 immunodeficiencysyndrome
: code 217390
Dol-P-mannosyltransferasedeficiency
: code 79322
Dolichol kinase deficiency
: code 91131
Dolichospondylic dysplasia
: code 2616
Dolichyl-phosphate N- acetylgalactosaminephosphotransferase deficiency
: code 86309
DOLV
: code 3427
Dominant beta-thalassemia
: code 231226
Dominant drusen
: code 75376
Dominant dystrophic epidermolysisbullosa nails only
: code 158676
Dominant hyaloideoretinaldystrophy of Wagner
: code 898
Dominant hypophosphatemia withnephrolithiasis or osteoporosis
: code 244305
Dominant KATP hyperinsulinismdue to Kir6.2 deficiency
: code 276580
Dominant radial drusen
: code 75376
Donath-Landsteiner hemolyticanemia
: code 90035
Donath-Landsteiner syndrome
: code 90035
Donnai-Barrow syndrome
: code 2143
Donohue syndrome
: code 508
DOOR syndrome
: code 79500
DOORS syndrome
: code 79500
Doose syndrome
: code 1942
Dopa-responsive dystonia due tosepiapterin reductase deficiency
: code 70594
Dopamine beta-hydroxylasedeficiency
: code 230
Dorfman-Chanarin disease
: code 98907
DORV
: code 3426
DORV with atrioventricular septal defect pulmonary stenosis heterotaxy
: code 423712
DORV with non-committedsubpulmonary VSD
: code 99046
DORV with subaortic or doublycommitted VSD
: code 423693
DORV with subaortic or doubly committed VSD with pulmonarystenosis
: code 99043
DORV with subpulmonary VSD
: code 99045
DORV Fallot type
: code 99043
DORV-TGA
: code 99045
Double A syndrome
: code 869
Double discordance
: code 216694
Double inlet left ventricle
: code 1464
Double nose
: code 141091
Double outlet left ventricle
: code 3427
Double outlet right ventricle
: code 3426
Double outlet right ventricle with atrioventricular septal defect pulmonary stenosis heterotaxy
: code 423712
Double outlet right ventricle with doubly committed ventricular septaldefect
: code 423693
Double outlet right ventricle with non-committed subpulmonaryventricular septal defect
: code 99046
Double outlet right ventricle with subaortic or doubly committedventricular septal defect
: code 423693
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect withpulmonary stenosis
: code 99043
Double outlet right ventricle withsubaortic ventricular septal defect
: code 423693
Double outlet right ventricle with subpulmonary ventricular septaldefect
: code 99045
Double outlet right ventricle withtransposition of the great arteries
: code 99045
Double outlet right ventricle Fallottype
: code 99043
Double tachycardia induced by
: code 3286
Double uterus and obstructedhemivagina syndrome
: code 3411
Double uterus-hemivagina-renalagenesis syndrome
: code 3411
Double Y syndrome
: code 8
Double-orifice mitral valve
: code 95474
Dowling-Degos disease
: code 79145
Down syndrome
: code 870
Doyne honeycomb retinaldystrophy
: code 75376
DPAGT1-CDG
: code 86309
DPG-plus syndrome
: code 314621
DPL
: code 71274
DPM1-CDG
: code 79322
DPM2-CDG
: code 329178
DPM3-CDG
: code 263494
Dracunculiasis
: code 231
Dracunculosis
: code 231
Drash syndrome
: code 220
Dravet syndrome
: code 33069
DRC syndrome
: code 79500
DRD due to SRD
: code 70594
Dream disease
: code 130
DRESS syndrome
: code 139402
DRPLA
: code 101
DRS
: code 233
dRTA
: code 18
dRTA type 1b
: code 402041
dRTA type 1c
: code 402041
dRTA with anemia
: code 93610
Drug or radiation exposure-relatedinterstitial lung disease
: code 264978
Drug rash with eosinophilia andsystemic symptoms
: code 139402
Drug reaction eosinophilic systemicsyndrome
: code 139402
Drug-induced AIHA
: code 90037
Drug-induced autoimmunehemolytic anemia
: code 90037
Drug-induced localizedlipodystrophy
: code 90157
Drug-induced lupus erythematosus
: code 231111
Drug-induced methemoglobinemia
: code 464453
Drug-induced vasculitis
: code 251325
Drug-related renal tubulardysgenesis
: code 97368
Drummond syndrome
: code 94086
DS
: code 33069
DS-AMKL
: code 99887
dSMA1
: code 98920
dSMA2
: code 139525
dSMA3
: code 139547
dSMA4
: code 206580
dSMA5
: code 314485
DSMAX
: code 139557
DSRCT
: code 83469
DST-related epidermolysis bullosasimplex
: code 412181
DTDP1
: code 99789
DTDP2
: code 99791
Du Pan syndrome
: code 2639
Duane anomaly-myopathy-scoliosissyndrome
: code 50817
Duane retraction syndrome
: code 233
Duane syndrome
: code 233
Duane-radial ray syndrome
: code 93293
Duane-radial ray syndrome due to apoint mutation
: code 261647
Duane-radial ray syndrome due tomonosomy 20q13
: code 261638
Dubin-Johnson syndrome
: code 234
Dubin-Sprinz disease
: code 234
Dubowitz syndrome
: code 235
Duchenne muscular dystrophy
: code 98896
Duct-centric pancreatitis
: code 280315
Dunbar syndrome
: code 293208
Duncan disease
: code 2442
Dunnigan syndrome
: code 2348
Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome
: code 293864
Duodenal atresia
: code 1203
Dup7q11.23D
: code 261102
Dup(1)(q21.1)
: code 250994
Dup(2)(q23.1)
: code 313947
Dup(2)(q31.1)
: code 294026
Dup(3)(q26)
: code 96095
dup(3q) syndrome
: code 96095
Dup(5)(p13)
: code 329802
Dup(5)(q35)
: code 228415
Dup(7)(p22.1)
: code 314034
Dup(7)(q11.23)
: code 96121
Dup(7)(q36.3)
: code 459074
Dup(8)(p23.1p23.1)
: code 251076
Dup(8)(q12)
: code 228399
Dup(10)(q22.3q23.3)
: code 276422
Dup(11)p(15.4)
: code 300305
Dup(14)(q11.2)
: code 261229
Dup(14)q(32)
: code 488280
Dup(15)(q11q13)
: code 238446
Dup(16)(p11.2p12.2)
: code 261204
Dup(16)(p13.11)
: code 261243
Dup(16)(p13.3)
: code 96078
Dup(17)(p11.2p12)
: code 477817
Dup(17)(p13.3)
: code 217385
Dup(17)(q11.2)
: code 139474
Dup(17)(q12)
: code 261272
Dup(17)(q21.31)
: code 217340
Dup(17p)
: code 261290
Dup(19)(p13.13)
: code 447980
Dup(20)(q11.2)
: code 363659
Dup(20p)
: code 261318
Dup(22)(q11)
: code 1727
Dup(X)(p22)
: code 284180
Dup(X)(p22.13p22.2)
: code 284180
Dup(X)(q12-q13.3)
: code 314389
Dup(X)(q27.3q28)
: code 261483
Duplication 1q
: code 261344
Duplication 4p
: code 1738
Duplication 5p
: code 1742
Duplication 8p
: code 264450
Duplication 8q
: code 1752
Duplication 8q/deletion 8p
: code 96167
Duplication 9p
: code 236
Duplication 12p
: code 1699
Duplication 18p
: code 1715
Duplication 22q11.2
: code 1727
Duplication of 20p
: code 261318
Duplication of the pituitary gland
: code 314621
Duplication of the pituitary gland-plus syndrome
: code 314621
Duplication of the short arm ofchromosome 4
: code 1738
Duplication of the short arm ofchromosome 5
: code 1742
Duplication of the short arm ofchromosome 9
: code 236
Duplication of the short arm ofchromosome 18
: code 1715
Duplication of urethra
: code 237
Duplication Xp22
: code 284180
Duplication/inversion 15q11
: code 3306
Dural sinus malformation
: code 97339
Durhing-Brocq disease
: code 1656
DURS
: code 233
Dursun syndrome
: code 331176
Dusty cataract
: code 98984
Dutch-Kentucky syndrome
: code 3377
Dwarfism-stiff joint-ocularabnormalities syndrome
: code 969
Dwarfism-tall vertebrae syndrome
: code 2616
DWM with postaxial polydactyly
: code 1566
Dyggve-Melchior-Clausen disease
: code 239
Dykes-Marks-Harper syndrome
: code 2274
DYRK1A-related intellectualdisability syndrome
: code 464306
DYRK1A-related intellectual disability syndrome due to21q22.13q22.2 microdeletion
: code 268261
DYRK1A-related intellectualdisability syndrome due to a point
: code 464311
Dyschondroplasia
: code 296
Dyschondrosteosis-nephritissyndrome
: code 1765
Dyschromatosis symmetricahereditaria
: code 41
Dyschromatosis universalishereditaria
: code 241
Dysembryoplastic neuroepithelialtumor
: code 251946
Dysequilibrium syndrome
: code 1766
Dysgerminomatous germ cellcancer of the ovary
: code 99912
Dysharmonic skeletal maturation- muscular fiber disproportionsyndrome
: code 3010
Dyskeratosis congenita
: code 1775
Dyskeratosis congenita withbilateral exudative retinopathy
: code 3088
Dyslipidemia type 3
: code 412
Dysmorphism-cleft palate-looseskin syndrome
: code 1779
Dysmorphism-conductive hearingloss-heart defect syndrome
: code 289553
Dysmorphism-multiple structuralanomalies syndrome
: code 1780
Dysmorphism-pectus carinatum-joint laxity syndrome
: code 2104
Dysmorphism-short stature- deafness-disorder of sexdevelopment syndrome
: code 2282
Dysmorphism-short stature- deafness-pseudohermaphroditismsyndrome
: code 2282
Dysosteosclerosis
: code 1782
Dysostosis enchondralismetaepiphysaria Catel-Hempel type
: code 800
Dysostosis Stanescu type
: code 1798
Dysphagia lusoria
: code 99082
Dysplasia epiphysealis hemimelica
: code 1822
Dysplasia of head of femur Meyertype
: code 168621
Dysplastic cortical hyperostosis
: code 2204
Dysplastic gangliocytoma of thecerebellum
: code 65285
Dysprothrombinemia
: code 325
Dysraphism-cleft lip/palate-limbreduction defects syndrome
: code 2476
Dyssegmental dysplasia Rolland-Desbuquois type
: code 156731
Dyssegmental dysplasia Silverman-Handmaker type
: code 1865
Dyssegmental dysplasia-glaucomasyndrome
: code 1804
Dysspondyloenchondromatosis
: code 85198
Dystonia 12
: code 71517
Dystonia 14
: code 98808
Dystonia 16
: code 210571
Dystonia 18
: code 98811
Dystonia 23
: code 420492
Dystonia 24
: code 420485
Dystonia 25
: code 329466
Dystonia 29
: code 508093
Dystonia musculorum deformans
: code 256
Dystonia-aphonia syndrome
: code 412217
Dystonia-parkinsonism Paisan-Ruiztype
: code 199351
Dystrophia Helsinglandica
: code 293381
Dystrophia Smolandiensis
: code 293381
Dystrophic epidermolysis bullosainversa
: code 79409
Dystrophic epidermolysis bullosapruriginosa
: code 89843
DYT1
: code 256
DYT2
: code 99657
DYT3
: code 53351
DYT4
: code 98805
DYT5a
: code 98808
DYT5b
: code 101150
DYT6
: code 98806
DYT9
: code 53583
DYT12
: code 71517
DYT13
: code 98807
DYT14
: code 98808
DYT15
: code 36899
DYT16
: code 210571
DYT18
: code 98811
DYT21
: code 306734
DYT23
: code 420492
DYT24
: code 420485
DYT25
: code 329466
DYT29
: code 508093
E3-deficient maple syrup urinedisease
: code 2394
E-beta-thalassemia
: code 231249
Eagle-Barret syndrome
: code 2970
Eales disease
: code 40923
Ear-patella-short stature syndrome
: code 2554
Early infantile epilepticencephalopathy
: code 1934
Early infantile epileptic encephalopathy with suppression-bursts
: code 1934
Early myoclonic encephalopathy
: code 1935
Early myoclonic encephalopathywith suppression-bursts
: code 1935
Early-onset anterior polar cataract
: code 98988
Early-onset anterior subcapsularcataract
: code 98988
Early-onset autosomal dominant
: code 1020
Early-onset benign childhoodoccipital epilepsy
: code 98815
Early-onset cataract with Y-shapedsuture opacities
: code 98985
Early-onset cerebellar ataxia withretained tendon reflexes
: code 1177
Early-onset desmin-relatedmyopathy
: code 84132
Early-onset diabetes mellitus withmultiple epiphyseal dysplasia
: code 1667
Early-onset dystonia parkinsonism
: code 210571
Early-onset epilepsy-intellectualdisability-brain anomalies syndrome
: code 488635
Early-onset epileptic encephalopathy and intellectualdisability due to GRIN2A mutation
: code 289266
Early-onset epileptic encephalopathy-cortical blindness- intellectual disability-facialdysmorphism syndrome
: code 411986
Early-onset familial autosomaldominant Alzheimer disease
: code 1020
Early-onset familial noncirrhoticportal hypertension
: code 494348
Early-onset generalized limb-onsetdystonia
: code 256
Early-onset generalized torsiondystonia
: code 256
Early-onset hypertension withexacerbation in pregnancy
: code 88660
Early-onset Lafora body disease
: code 324290
Early-onset lamellar cataract
: code 441452
Early-onset multiple carboxylasedeficiency
: code 79242
Early-onset myopathy with fatalcardiomyopathy
: code 289377
Early-onset myopathy-areflexia- respiratory distress-dysphagiasyndrome
: code 439212
Early-onset non-syndromic cataract
: code 91492
Early-onset nuclear cataract
: code 98991
Early-onset Parkinson disease
: code 2828
Early-onset parkinsonism-intellectual disability syndrome
: code 2379
Early-onset partial cataract
: code 98992
Early-onset posterior polar cataract
: code 98993
Early-onset posterior subcapsularcataract
: code 441447
Early-onset primary dystonia
: code 256
Early-onset prion disease withprominent psychiatric features
: code 157941
Early-onset progressive diffuse brain atrophy-microcephaly-muscleweakness-optic atrophy syndrome
: code 496641
Early-onset progressive
: code 500144
Early-onset progressive encephalopathy-spastic ataxia-distalspinal muscular atrophy syndrome
: code 496756
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
: code 352654
Early-onset sarcoidosis
: code 90340
Early-onset schizophrenia
: code 96369
Early-onset seizures-distal limb anomalies-facial dysmorphism- global developmental delaysyndrome
: code 505237
Early-onset severe retinaldystrophy
: code 364055
Early-onset spastic ataxia- myoclonic epilepsy-neuropathysyndrome
: code 313772
Early-onset sutural cataract
: code 98985
Early-onset torsion dystonia
: code 256
Early-onset vitelliform maculardystrophy
: code 1243
Early-onset X-linked optic atrophy
: code 98890
Early-onset zonular cataract
: code 98995
EAST syndrome
: code 199343
East Texas bleeding disorder
: code 391320
Eastern equine encephalitis
: code 83594
Eastern equine encephalomyelitis
: code 83594
Eastman-Bixler syndrome
: code 1973
Eating epilepsy
: code 166418
Eating reflex epilepsy
: code 166418
Eating seizures
: code 166418
EATL
: code 86880
EB progressive
: code 79406
EBJ-I
: code 79405
EBMD
: code 98956
Ebola fever
: code 319218
Ebola hemorrhagic fever
: code 319218
Ebola virus disease
: code 319218
EBS autosomal recessive K14
: code 89838
EBS generalized intermediate
: code 79399
EBS generalized severe
: code 79396
EBS-AR BP230
: code 412181
EBS-AR exophilin 5
: code 412189
EBS-AR KRT14
: code 89838
EBS-loc
: code 79400
EBS-MD
: code 257
EBS-migr
: code 158681
EBS-MP
: code 79397
EBS-O
: code 79401
EBS-PA
: code 158684
EBSS
: code 89839
Ebstein anomaly of the tricuspidvalve
: code 1880
Ebstein malformation
: code 1880
EBV-associated gastric carcinoma
: code 313920
EBV-positive DLBCL of the elderly
: code 289661
EBVaGC
: code 313920
ECAA
: code 494424
ECCA
: code 494424
Eccrine tumors-ectodermaldysplasia
: code 50944
Echinococcus multilocularisinfection
: code 284
ECO syndrome
: code 199332
ECP syndrome
: code 1896
Ectasia of the left atrial appendage
: code 99102
Ectasia of the left auricle
: code 99102
Ectasia of the right atrialappendage
: code 99101
Ectasia of the right atrial auricle
: code 99101
Ectasic coloboma
: code 35737
Ectodermal dysplasia syndrome Rapp-Hodgkin type
: code 1071
Ectodermal dysplasia with natalteeth Turnpenny type
: code 69083
Ectodermal dysplasia Berlin type
: code 1816
Ectodermal dysplasia Rapp-Hodgkin type
: code 1071
Ectodermal dysplasia trichoodontoonychial type
: code 1818
Ectodermal dysplasia-absentdermatoglyphs syndrome
: code 1658
Ectodermal dysplasia-acanthosisnigricans syndrome
: code 140936
Ectodermal dysplasia-adrenal cystsyndrome
: code 2036
Ectodermal dysplasia-blindnesssyndrome
: code 1806
Ectodermal dysplasia-cutaneoussyndactyly syndrome
: code 247827
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
: code 1897
Ectodermal dysplasia-intellectual disability-central nervous systemmalformation syndrome
: code 1812
Ectodermal dysplasia-sensorineuraldeafness syndrome
: code 1883
Ectodermal dysplasia-sensorineuralhearing loss syndrome
: code 1883
Ectodermal dysplasia-short staturesyndrome
: code 423454
Ectodermal dysplasia-skin fragilitysyndrome
: code 158668
Ectodermal dysplasia-syndactylysyndrome
: code 247820
Ectopia cordis
: code 448270
Ectopia lentis syndrome
: code 1885
Ectopia lentis-chorioretinal
: code 1884
Ectopic ACTH secreting tumor
: code 99889
Ectopic aldosterone-producingtumor
: code 231632
Ectopic Cushing syndrome
: code 99889
Ectopic neurohypophysis
: code 95496
Ectrodactyly
: code 2440
Ectrodactyly-cleft palate syndrome
: code 1896
Ectrodactyly-ectodermal dysplasiawithout clefting syndrome
: code 1896
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
: code 1896
Ectrodactyly-polydactyly syndrome
: code 1892
Ectrodactyly-spina bifida-cardiopathy syndrome
: code 1894
Ectropion inferior-cleft lip and/orpalate syndrome
: code 1997
Eczema-thrombocytopenia-immunodeficiency syndrome
: code 906
EDA-ID
: code 98813
EDCS
: code 247827
EDICT syndrome
: code 293936
Edinburgh malformation syndrome
: code 1895
EDM1
: code 93308
EDM4
: code 93307
EDM5
: code 93311
EDMD
: code 261
EDMD2
: code 98853
EDMD3
: code 98855
EDS I
: code 90309
EDS II
: code 90318
EDS III
: code 285
EDS IV
: code 286
EDS IX
: code 198
EDS type 4
: code 286
EDS V
: code 75497
EDS VIA
: code 1900
EDS VII
: code 1899
EDS VIIA
: code 99875
EDS VIIB
: code 99876
EDS VIIC
: code 1901
EDS VIII
: code 75392
EDS with periventricularheterotopia
: code 82004
EDS with progressive kyphoscoliosis myopathy anddeafness
: code 300179
EDS with progressive kyphoscoliosis myopathy andhearing loss
: code 300179
EDS X
: code 75501
EDS XI
: code 2295
EDS cardiac valvular type
: code 230851
EDS classic type
: code 287
EDS classic-like type
: code 230839
EDS kyphoscoliotic and hearingloss type
: code 300179
EDS kyphoscoliotic type
: code 1900
EDS musculocontractural type
: code 2953
EDS oculoscoliotic type
: code 1900
EDS progeroid type
: code 75496
EDS spondylocheirodysplastic type
: code 157965
EDS vascular-like type
: code 230845
EDS/OI syndrome
: code 230857
EDSS
: code 247820
EDSS1
: code 247820
EDSS2
: code 247827
Edstrm Myopathy
: code 178464
Edwards syndrome
: code 3380
Edwards-Patton-Dilly syndrome
: code 2668
EEC
: code 322
EEC syndrome
: code 1896
EEC syndrome without cleftlip/palate
: code 1896
EEM syndrome
: code 1897
Effort subclavian vein thrombosis
: code 357131
EFMR
: code 101039
EGE
: code 2070
EGPA
: code 183
EHF
: code 319218
EHK
: code 312
Ehlers-Danlos syndrome due totenascin-X deficiency
: code 230839
Ehlers-Danlos syndrome type 1
: code 90309
Ehlers-Danlos syndrome type 2
: code 90318
Ehlers-Danlos syndrome type 3
: code 285
Ehlers-Danlos syndrome type 4
: code 286
Ehlers-Danlos syndrome type 5
: code 75497
Ehlers-Danlos syndrome type 6A
: code 1900
Ehlers-Danlos syndrome type 7
: code 1899
Ehlers-Danlos syndrome type 7A
: code 99875
Ehlers-Danlos syndrome type 7B
: code 99876
Ehlers-Danlos syndrome type 7C
: code 1901
Ehlers-Danlos syndrome type 8
: code 75392
Ehlers-Danlos syndrome type 9
: code 198
Ehlers-Danlos syndrome type 10
: code 75501
Ehlers-Danlos syndrome type 11
: code 2295
Ehlers-Danlos syndrome type IV
: code 286
Ehlers-Danlos syndrome type IX
: code 198
Ehlers-Danlos syndrome withperiventricular heterotopia
: code 82004
Ehlers-Danlos syndrome with platelet dysfunction fromfibronectin abnormality
: code 75501
Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and deafness
: code 300179
Ehlers-Danlos syndrome with
: code 300179
Ehlers-Danlos syndrome arthrochalasia type
: code 1899
Ehlers-Danlos syndrome arthrochalasis type
: code 1899
Ehlers-Danlos syndrome cardiacvalvular type
: code 230851
Ehlers-Danlos syndrome classictype
: code 287
Ehlers-Danlos syndrome classic-liketype
: code 230839
Ehlers-Danlos syndrome dermatosparaxis type
: code 1901
Ehlers-Danlos syndrome fibronectin-deficient
: code 75501
Ehlers-Danlos syndrome fibronectinemic type
: code 75501
Ehlers-Danlos syndrome hypermobile type
: code 285
Ehlers-Danlos syndrome hypermobility type
: code 285
Ehlers-Danlos syndrome Koshotype
: code 2953
Ehlers-Danlos syndrome kyphoscoliotic and deafness type
: code 300179
Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type
: code 300179
Ehlers-Danlos syndrome kyphoscoliotic type
: code 1900
Ehlers-Danlos syndrome musculocontractural type
: code 2953
Ehlers-Danlos syndrome oculoscoliotic type
: code 1900
Ehlers-Danlos syndrome periodontitis type
: code 75392
Ehlers-Danlos syndrome progeroidtype
: code 75496
Ehlers-Danlos syndrome spondylocheirodysplastic type
: code 157965
Ehlers-Danlos syndrome vasculartype
: code 286
Ehlers-Danlos syndrome vascular-like type
: code 230845
Ehlers-Danlos/osteogenesisimperfecta syndrome
: code 230857
Ehrlichiosis
: code 1902
Ehrmann-Sneddon syndrome
: code 820
EI
: code 312
EIEE
: code 1934
EIHI
: code 165991
Eiken syndrome
: code 79106
Eisenmenger syndrome
: code 97214
EKC syndrome
: code 476096
EKV
: code 317
Elastoderma
: code 228240
Elastofibroma dorsi
: code 228243
Elastoma
: code 228254
Elastosis perforans serpiginosa
: code 79148
Elastotic striae
: code 228236
Elejalde disease
: code 33445
Elejalde syndrome
: code 221054
Ellis Van Creveld syndrome
: code 289
Ellis-Yale-Winter syndrome
: code 2516
Elsahy-Waters syndrome
: code 1299
Elsching syndrome
: code 1997
Emanuel syndrome
: code 96170
EMARDD
: code 439212
EMAS
: code 1942
Emberger syndrome
: code 3226
Embryonal carcinoma
: code 180226
Embryonal carcinoma of the centralnervous system
: code 48736
Embryonal carcinoma of the CNS
: code 48736
Embryonal rhabdomyosarcoma
: code 99757
Embryonal sarcoma of the liver
: code 178315
Embryonary disorganizationsyndrome
: code 1664
Embryonic testicular regressionsyndrome
: code 983
EMEA
: code 139431
Emery-Dreifuss muscular dystrophy
: code 261
Emery-Nelson syndrome
: code 1927
EMILIN-1-related connective tissuedisease
: code 485418
Enamel-renal syndrome
: code 1031
Encephalitis lethargica
: code 83600
Encephaloclastic proliferativevasculopathy
: code 221126
Encephalocraniocutaneouslipomatosis
: code 2396
Encephalofacial angiomatosis
: code 3205
Encephalopathy due to GLUT1deficiency
: code 71277
Encephalopathy due tohydroxykynureninuria
: code 79155
Encephalopathy due to prosaposindeficiency
: code 139406
Encephalopathy due to sulfiteoxidase deficiency
: code 833
Encephalopathy due to urocanasedeficiency
: code 210128
Encephalopathy with basal gangliacalcification
: code 51
Encephalopathy with intracranial calcification and chroniclymphocytosis of cerebrospinal fluid
: code 51
Encephalopathy-hypertrophic cardiomyopathy-renal tubulardisease syndrome
: code 319678
Encephalopathy-intracerebral
: code 1261
Encephalotrigeminal angiomatosis
: code 3205
Enchondromatosis
: code 296
Encircling double aortic arch
: code 99075
Endemic typhus
: code 83315
Endocrine-cerebro-osteodysplasiasyndrome
: code 199332
Endodermal sinus tumor
: code 876
Endodermal sinus tumor of centralnervous system
: code 252006
Endodermal sinus tumor of CNS
: code 252006
Endoepithelial corneal dystrophy
: code 98974
Endometrial adenoid cysticcarcinoma
: code 213741
Endometrial capillary carcinoma
: code 213726
Endometrial squamous cellcarcinoma
: code 213716
Endometrial stromal sarcoma
: code 213711
Endometrial transitional cellcarcinoma
: code 213746
Endometrial undifferentiatedcarcinoma
: code 213721
Endometrioid carcinoma of ovary
: code 454723
Endometriosis outside pelvis
: code 137820
Endomyocardial fibroelastosis
: code 2022
Endophthalmitis
: code 199323
Endophthalmitisphacoanaphylactica
: code 209959
Endosteal hyperostosis Worth type
: code 2790
Endosteal sclerosis-cerebellarhypoplasia syndrome
: code 85186
Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
: code 293936
Endotheliitis
: code 137602
Eng-Strom syndrome
: code 1937
Enhanced S-cone syndrome
: code 53540
Enlarged parietal foramina
: code 60015
Enteric anendocrinosis
: code 83620
Enteric duplication cyst of thetongue
: code 141071
Enteropathy-associated T-celllymphoma
: code 86880
Enteropathy-type T-cell lymphoma
: code 86880
Enthesitis-related JIA
: code 85438
Enthesitis-related juvenileidiopathic arthritis
: code 85438
EOCA
: code 1177
EOCARR
: code 1177
EOE
: code 370334
EoE
: code 73247
EOFAD
: code 1020
EOMFC
: code 289377
EOPPC
: code 168829
Eosinophilic angiocentric fibrosis
: code 449566
Eosinophilic cellulitis
: code 901
Eosinophilic colitis
: code 402035
Eosinophilic endocarditis
: code 75566
Eosinophilic enteritis
: code 2070
Eosinophilic esophagitis
: code 73247
Eosinophilic fasciitis
: code 3165
Eosinophilic gastroenteritis
: code 2070
Eosinophilic gastroenterocolitis
: code 2070
Eosinophilic granuloma
: code 99871
Eosinophilic granulomatosis withpolyangiitis
: code 183
Eosinophilic lymphogranuloma
: code 482
EOSRD
: code 364055
EOTD
: code 256
Ependymoblastoma
: code 251880
Ependymoma
: code 251636
Epiblepharon
: code 99169
Epibronchial right pulmonary veinsyndrome
: code 185
Epibulbar lipodermoid-preauricularappendage-polythelia syndrome
: code 231742
Epidemic typhus
: code 83314
Epidermal hamartoma syndrome
: code 35125
Epidermal nevus syndrome
: code 35125
Epidermal nevus with epidermolytichyperkeratosis
: code 497737
Epidermodysplasia verruciformis
: code 302
Epidermolysis bullosa acquisita
: code 46487
Epidermolysis bullosa letalis
: code 79404
Epidermolysis bullosa simplex dueto BP230 deficiency
: code 412181
Epidermolysis bullosa simplex dueto exophilin 5 deficiency
: code 412189
Epidermolysis bullosa simplex dueto plakophilin deficiency
: code 158668
Epidermolysis bullosa simplex ofpalms and soles
: code 79400
Epidermolysis bullosa simplexsuperficialis
: code 89839
Epidermolysis bullosa simplex withanodontia/hypodontia
: code 2325
Epidermolysis bullosa simplex withcircinate migratory erythema
: code 158681
Epidermolysis bullosa simplex withmottled pigmentation
: code 79397
Epidermolysis bullosa simplex withmuscular dystrophy
: code 257
Epidermolysis bullosa simplex withpyloric atresia
: code 158684
Epidermolysis bullosa simplex autosomal recessive K14
: code 89838
Epidermolysis bullosa simplex Dowling-Meara type
: code 79396
Epidermolysis bullosa simplex
: code 79399
Epidermolysis bullosa simplex generalized severe
: code 79396
Epidermolysis bullosa simplex herpetiformis
: code 79396
Epidermolysis bullosa simplex Kbner type
: code 79399
Epidermolysis bullosa simplex Koebner type
: code 79399
Epidermolysis bullosa simplex Ogna type
: code 79401
Epidermolysis bullosa simplex Weber-Cockayne type
: code 79400
Epidermolytic epidermal nevus
: code 497737
Epidermolytic hyperkeratosis
: code 312
Epidermolytic ichthyosis
: code 312
Epidermolytic nevus
: code 497737
Epidermolytic palmoplantarkeratoderma
: code 2199
Epidermolytic palmoplantarkeratoderma of Voerner
: code 2199
Epidermolytic palmoplantarkeratoderma of Vrner
: code 2199
Epidermolytic verrucous epidermalnevus
: code 497737
Epignathus
: code 141077
Epilepsy due to FCD
: code 65683
Epilepsy with myoclonic absences
: code 86911
Epilepsy with myoclonic-astaticseizures
: code 1942
Epilepsy with myoclonic-atonicseizures
: code 1942
Epilepsy-cortical blindness- intellectual disability-facialdysmorphism syndrome
: code 411986
Epilepsy-dementia-amelogenesisimperfecta syndrome
: code 1946
Epilepsy-microcephaly-skeletaldysplasia syndrome
: code 1948
Epilepsy-telangiectasia syndrome
: code 1951
Epileptic encephalopathy with continuous spike-and-wave duringslow sleep
: code 725
Epileptic encephalopathy withglobal cerebral demyelination
: code 353217
Epimerase deficiency galactosemia
: code 79238
Epimetaphyseal skeletal dysplasia
: code 1819
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
: code 1825
Epiphyseal dysplasia-microcephaly-nystagmus syndrome
: code 1824
Epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome
: code 1952
Epiphysial-vertebral-ear dysplasia- nose-plus associated findingssyndrome
: code 496751
Epiphysiolysis of the hip
: code 399329
Epiphysiolysis of the upper femur
: code 399329
Episkopi blindness
: code 649
Episodic ataxia type 1
: code 37612
Episodic ataxia type 2
: code 97
Episodic ataxia type 3
: code 79135
Episodic ataxia type 4
: code 79136
Episodic ataxia type 5
: code 211067
Episodic ataxia type 6
: code 209967
Episodic ataxia type 7
: code 209970
Episodic ataxia type 8
: code 401953
Episodic ataxia with myokymia
: code 37612
Episodic ataxia with slurred speech
: code 401953
Episodic ataxia-vertigo-tinnitus-myokymia syndrome
: code 79135
Episodic choreoathetosis/spasticity
: code 53583
Episodic spontaneous hypothermia
: code 29822
Epispadias
: code 93928
Epithelial basement membranedystrophy
: code 98956
Epithelial recurrent erosiondystrophy
: code 293381
Epithelioid hemangioendothelioma
: code 157791
Epithelioid sarcoma
: code 293202
Epithelioid trophoblastic tumor
: code 254698
Epithelioma calcificans of Malherbe
: code 91414
EPM2
: code 501
EPM3
: code 263516
EPM4
: code 163696
EPM5
: code 402082
EPM6
: code 280620
EPM7
: code 435438
EPM8
: code 424027
EPM9
: code 457265
EPP
: code 79278
EPPK
: code 2199
Epstein syndrome
: code 182050
Epstein-Barr virus-associatedgastric carcinoma
: code 313920
Epstein-Barr virus-positive diffuselarge B-cell lymphoma of the elderly
: code 289661
ERA
: code 85438
Erdheim-Chester disease
: code 35687
ERED
: code 293381
Ermine phenotype
: code 999
Eroded polypoid hyperplasia
: code 160148
Eronen-Somer-Gustafssonsyndrome
: code 79500
Erosive pustular dermatosis of thescalp
: code 222
Eruptive collagenoma
: code 228264
Erythema elevatum diutinum
: code 90000
Erythema exsudativum multiformemajus
: code 502499
Erythema multiforme major
: code 502499
Erythema multiforme majus
: code 502499
Erythema palmare hereditarium
: code 231031
Erythrocyte epimerase deficiencygalactosemia
: code 308473
Erythrocyte galactose epimerasedeficiency
: code 308473
Erythrocyte GALE deficiency
: code 308473
Erythrocyte GALE-D
: code 308473
Erythrocyte lactate transporterdefect
: code 171690
Erythrocyte UDP-galactose-4-epimerase deficiency
: code 308473
Erythrocyte uridine diphosphategalactose-4-epimerase deficiency
: code 308473
Erythroderma desquamativum
: code 314
Erythrodermic ichthyosis
: code 79394
Erythroedema polyneuritis
: code 247165
Erythrokeratoderma ”en cocardes”
: code 315
Erythrokeratodermia progressivasymmetrica
: code 316
Erythrokeratodermia variabilis
: code 317
Erythrokeratodermia variabilis Mendes da Costa type
: code 317
Erythrokeratodermia with ataxia
: code 1955
Erythrokeratodermia-cardiomyopathy syndrome
: code 476096
Erythrokeratolysis hiemalis
: code 50943
Erythroleukemia
: code 318
Erythromelalgia
: code 1956
Erythropoietic uroporphyriaassociated with myeloid malignancy
: code 280379
ESCC
: code 99977
Escher-Hirt syndrome
: code 2405
Escobar syndrome
: code 2990
Escobar variant multiple pterygiumsyndrome
: code 2990
Esophageal adenocarcinoma
: code 99976
Esophageal atresia
: code 1199
Esophageal carcinoma salivarygland type
: code 418945
Esophageal duplication cyst
: code 100047
Esophageal epidermoid carcinoma
: code 99977
Esophageal NEN
: code 506136
Esophageal neuroendocrineneoplasm
: code 506136
Esophageal squamous cellcarcinoma
: code 99977
Essential cryoglobulinemia
: code 91138
Essential fructosuria
: code 2056
Essential iris atrophy
: code 98981
Essential mixed cryoglobulinemia
: code 91138
Essential pentosuria
: code 2843
Essential thrombocythemia
: code 3318
Essential thrombocytosis
: code 3318
Esthesioneuroblastoma
: code 1957
Estrogen resistance syndrome
: code 785
ET
: code 3318
Ethylene glycol poisoning
: code 31826
Ethylmalonic encephalopathy
: code 51188
ETRS
: code 983
ETTL
: code 86880
Euhidrotic ectodermal dysplasia
: code 2892
Euryblepharon
: code 99172
Euthyroid Graves ophthalmopathy
: code 466682
Euthyroid Graves orbitopathy
: code 466682
Evans syndrome
: code 1959
Evans syndrome associated withprimary immunodeficiency
: code 444463
EVEN-plus syndrome
: code 496751
EVMPS
: code 2990
EVN
: code 251927
Ewing sarcoma
: code 319
Exercise-induced delayed-onsetmyotonia
: code 99734
Exercise-induced hyperinsulinemichypoglycemia
: code 165991
Exercise-induced hyperinsulinism
: code 165991
Exercise-induced malignanthyperthermia
: code 466650
Exertional heat stroke
: code 466650
Exfoliative ichthyosis
: code 289586
Exner syndrome
: code 955
Exomphalos-macroglossia-gigantism syndrome
: code 116
Exostoses-anetodermia-brachydactyly type E syndrome
: code 1962
Expanded spectrum hemifacialmicrosomia
: code 374
Exstrophy-epispadias complex
: code 322
Extensive peripapillary myelinatednerve fibers
: code 440724
Extensor tendons of fingeranomalies
: code 3294
External auditory canalaplasia/hypoplasia
: code 141074
External auditory canal atresia- vertical talus-hypertelorismsyndrome
: code 3023
External auditory canalstenosis/atresia
: code 141074
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
: code 508533
Extra-adrenal aldosterone-producing tumor
: code 231632
Extra-ovarian primary peritonealcarcinoma
: code 168829
Extracranial carotid arteryaneurysm
: code 494424
Extracutaneous mastocytoma
: code 66662
Extragonadal germinoma
: code 182127
Extragonadal teratoma
: code 883
Extralobar congenitalbronchopulmonary sequestration
: code 280811
Extralobar congenital pulmonarysequestration
: code 280811
Extramammary Paget disease
: code 2800
Extramedullary myeloid tumor
: code 86850
Extramedullary soft tissueplasmacytoma
: code 100022
Extraneural perineurioma
: code 100002
Extranodal marginal zone B-celllymphoma
: code 52417
Extranodal nasal NK/T celllymphoma
: code 86879
Extraosseous Ewing sarcoma
: code 370334
Extraosseous Ewing tumor
: code 370334
Extrapelvic endometriosis
: code 137820
Extraskeletal Ewing sarcoma
: code 370334
Extraskeletal Ewing tumor
: code 370334
Extraskeletal myxoidchondrosarcoma
: code 209916
Extrasystoles-short stature- hyperpigmentation-microcephalysyndrome
: code 1964
Extraventricular neurocytoma
: code 251927
Eye defects-arachnodactyly-cardiopathy syndrome
: code 2725
Eyebrow duplication-syndactylysyndrome
: code 3172
Eyelid myoclonia with and withoutabsences
: code 139431
F5F8D
: code 35909
F syndrome
: code 957
FA
: code 95
Fabry disease
: code 324
FACES syndrome
: code 1969
Facial asymmetry-temporal seizuressyndrome
: code 1167
Facial dermoid cyst
: code 141051
Facial diplegia with paresthesias
: code 480701
Facial diplegia with paresthesiasvariant of GBS
: code 480701
Facial diplegia with paresthesiasvariant of Guillain-Barr syndrome
: code 480701
Facial dysmorphism-ambiguous genitalia-hypopituitarism-shortlimbs syndrome
: code 3157
Facial dysmorphism-anorexia- cachexia-eye and skin anomaliessyndrome
: code 1969
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31microdeletion
: code 284169
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC pointmutation
: code 466950
Facial dysmorphism- immunodeficiency-livedo-shortstature syndrome
: code 352712
Facial dysmorphism-intellectual disability-short stature-hearing losssyndrome
: code 2588
Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumaticconjunctive cysts syndrome
: code 412022
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filteringblebs syndrome
: code 412022
Facial dysmorphism-macrocephaly- myopia-Dandy-Walkermalformation syndrome
: code 1970
Facial dysmorphism-shawl scrotum-joint laxity syndrome
: code 1778
Facial hemispasm
: code 221083
Facial nerve palsy due to herpeszoster infection
: code 3020
Facial nerve palsy due to VZV
: code 3020
Facial nerve paralysis due to VZV
: code 3020
Facial onset sensory and motorneuronopathy
: code 85162
Facio-audio-symphalangism
: code 3237
Facio-digito-genital syndrome Kuwait type
: code 1974
Facio-genito-popliteal syndrome
: code 1300
Facio-oculo-acoustico-renalsyndrome
: code 2143
Facio-pharyngo-glossal diplegia with automatic-voluntarymovement dissociation
: code 2048
Facio-pharyngo-glosso-masticatorydiplegia
: code 2048
Facioauriculovertebral dysplasia
: code 374
Faciocardiorenal syndrome
: code 1973
Faciocutaneoskeletal syndrome
: code 3071
Faciodigitogenital syndrome
: code 915
Faciogenital dysplasia
: code 915
Facioscapulohumeral dystrophy
: code 269
Facioscapulohumeral musculardystrophy
: code 269
Facioscapulohumeral myopathy
: code 269
Factor IX deficiency
: code 98879
Factor V Quebec
: code 220436
Factor VIII deficiency
: code 98878
FACU
: code 300359
FADD-related immunodeficiency
: code 306550
FADS
: code 994
FAH deficiency
: code 882
FAHN
: code 329308
Faisalabad histiocytosis
: code 168569
Fallot complex-intellectualdisability-growth delay syndrome
: code 3304
FAME
: code 86814
Familial hyperprolactinemia
: code 397685
Familial abdominal aortic aneurysm
: code 86
Familial acute necrotizingencephalopathy
: code 88619
Familial adenomatous polyposis
: code 733
Familial adenomatous polyposisdue to 5q22.2 microdeletion
: code 261584
Familial adenomatous polyposisdue to del(5)(q22.2)
: code 261584
Familial adenomatous polyposisdue to monosomy 5q22.2
: code 261584
Familial adrenal adenoma
: code 404
Familial adrenal hypoplasia withabsent pituitary LH
: code 95700
Familial adrenal hypoplasia withabsent pituitary luteinizing hormone
: code 95700
Familial adrenal hypoplasia miniature type
: code 95700
Familial adult myoclonic epilepsy
: code 86814
Familial advanced sleep-phasesyndrome
: code 164736
Familial afibrinogenemia
: code 98880
Familial Alzheimer disease
: code 1020
Familial Alzheimer-like priondisease
: code 280397
Familial AML
: code 319465
Familial amyloid nephropathy
: code 85450
Familial amyloid nephropathy dueto apolipoprotein A-I variant
: code 93560
Familial amyloid nephropathy dueto apolipoprotein A-II variant
: code 238269
Familial amyloid nephropathy dueto fibrinogen A alpha-chain variant
: code 93562
Familial amyloid nephropathy dueto lysozyme variant
: code 93561
Familial amyloid polyneuropathytype I
: code 85447
Familial amyloid polyneuropathytype IV
: code 85448
Familial amyloid polyneuropathy Portuguese-Swedish-Japanese type
: code 85447
Familial amyloidosis Finnish type
: code 85448
Familial anetoderma
: code 228277
Familial angiolipomatosis
: code 199279
Familial angioneurotic edema
: code 91378
Familial aortic dissection
: code 229
Familial apoA-I deficiency
: code 425
Familial apoC-II deficiency
: code 309020
Familial apolipoprotein C-II
: code 309020
Familial articular chondrocalcinosis
: code 1416
Familial atrial fibrillation
: code 334
Familial atrial myxoma
: code 615
Familial atrial tachyarrhythmia- infra-Hisian cardiac conductiondisease
: code 436242
Familial atypical cold urticaria
: code 300359
Familial atypical mole syndrome
: code 404560
Familial atypical multiple molemelanoma syndrome
: code 404560
Familial atypical multiple mole melanoma-pancreatic carcinomasyndrome
: code 404560
Familial avascular necrosis offemoral head
: code 86820
Familial BAV
: code 402075
Familial benign cervical lipomatosis
: code 2398
Familial benign chronic pemphigus
: code 2841
Familial benign copper deficiency
: code 1551
Familial benign flecked retina
: code 363989
Familial benign hypercalcemia
: code 405
Familial benign hypocalciurichypercalcemia
: code 405
Familial benign hypocupremia
: code 1551
Familial berry aneurysm
: code 231160
Familial bicuspid aortic valve
: code 402075
Familial brain cavernous angioma
: code 221061
Familial brain cavernoushemangioma
: code 221061
Familial breast cancer
: code 227535
Familial breast carcinoma
: code 227535
Familial CAD
: code 36382
Familial caf-au-lait spots
: code 2678
Familial calcium pyrophosphatedeposition
: code 1416
Familial caudal dysgenesis
: code 1768
Familial cavitary optic disc anomaly
: code 464760
Familial CC
: code 1416
Familial CD8 deficiency
: code 169085
Familial cerebelloretinalangiomatosis
: code 892
Familial cerebral amyloidangiopathy
: code 439254
Familial cerebral cavernoma
: code 221061
Familial cerebral cavernousmalformation
: code 221061
Familial cerebral saccular aneurysm
: code 231160
Familial cervical artery dissection
: code 36382
Familial Chilblain lupus
: code 481662
Familial chondromalacia patellae
: code 1428
Familial chylomicronemiasyndrome
: code 444490
Familial Clark nevus syndrome
: code 404560
Familial clubfoot due to 5q31
: code 293144
Familial clubfoot due to17q23.1q23.2 microduplication
: code 238578
Familial clubfoot due to PITX1 pointmutation
: code 293150
Familial clubfoot with or withoutassociated lower limb anomalies
: code 199315
Familial CODA
: code 464760
Familial cold autoinflammatorysyndrome
: code 47045
Familial cold autoinflammatorysyndrome type 2
: code 247868
Familial cold urticaria
: code 47045
Familial cold urticaria with commonvariable immunodeficiency
: code 300359
Familial colorectal cancer Type X
: code 440437
Familial congenital controlateralsynkinesia
: code 238722
Familial congenital hypopituitarism
: code 95494
Familial congenital mirrormovements
: code 238722
Familial congenital nasolacrimalduct obstruction
: code 451612
Familial congenital palsy oftrochlear nerve
: code 91498
Familial cortical myoclonic tremorand epilepsy
: code 86814
Familial cortical myoclonus
: code 319189
Familial CPPD
: code 1416
Familial cutaneous amyloidosis
: code 85453
Familial cutaneous collagenoma
: code 53296
Familial cutaneous telangiectasia and oropharyngeal cancerpredisposition syndrome
: code 313846
Familial cylindromatosis
: code 211
Familial dementia British type
: code 97345
Familial dementia Danish type
: code 97346
Familial dementia Neumann type
: code 313808
Familial developmental dysphasia
: code 1799
Familial diffuse cancer of stomach
: code 26106
Familial diffuse gastric cancer
: code 26106
Familial digital arthropathy-brachydactyly
: code 85169
Familial dilated cardiomyopathy with conduction defect due toLMNA mutation
: code 300751
Familial distal primary acidosis
: code 18
Familial doughnut lesions of skull
: code 85192
Familial drusen
: code 75376
Familial dysautonomia
: code 1764
Familial dysautonomia withcontractures
: code 314381
Familial dysbetalipoproteinemia
: code 412
Familial dysfibrinogenemia
: code 98881
Familial dyskinesia and facial
: code 324588
Familial dysplastic nevus syndrome
: code 404560
Familial ectopia lentis
: code 1885
Familial ectopic ossification
: code 2762
Familial encephalopathy withneuroserpin inclusion bodies
: code 85110
Familial episodic pain syndrome
: code 391384
Familial episodic pain syndrome with predominantly lower limbinvolvement
: code 391392
Familial episodic pain syndrome with predominantly upper bodyinvolvement
: code 391389
Familial erythrocytosis
: code 90042
Familial essential thrombocythemia
: code 225968
Familial expansile osteolysis
: code 85195
Familial exudativevitreoretinopathy
: code 891
Familial focal epilepsy with variablefoci
: code 98820
Familial fundic gland polyposis withgastric cancer
: code 314022
Familial gastric type 1neuroendocrine tumor
: code 464756
Familial generalized lentiginosis
: code 231040
Familial gestationalhyperthyroidism
: code 99819
Familial glucocorticoid deficiency
: code 361
Familial gonadotropin-independentmale-limited sexual precocity
: code 3000
Familial hemophagocyticlymphohistiocytosis
: code 540
Familial Hibernian fever
: code 32960
Familial HLH
: code 540
Familial hollow visceral myopathy
: code 2604
Familial hyperaldosteronism type 1
: code 403
Familial hyperaldosteronism type 2
: code 404
Familial hyperaldosteronism type 3
: code 251274
Familial hyperaldosteronism type I
: code 403
Familial hyperaldosteronism type II
: code 404
Familial hyperaldosteronism type III
: code 251274
Familial hyperalphalipoproteinemia
: code 79506
Familial hypercalcemia- nephrocalcinosis-indicanuriasyndrome
: code 94086
Familial hypercholanemia
: code 238475
Familial hyperestrogenism
: code 178345
Familial hyperkalemic hypertension
: code 757
Familial hyperkalemic periodicparalysis
: code 682
Familial hyperlipoproteinemia type3
: code 412
Familial hyperphosphatemic tumoralcalcinosis/Hyperphosphatemic
: code 306661
Familial hyperPP
: code 682
Familial hyperreninemichypoaldosteronism type 1
: code 99763
Familial hyperreninemichypoaldosteronism type 2
: code 99764
Familial hyperthyroidism due tomutations in TSH receptor
: code 424
Familial hypoaldosteronism
: code 427
Familial hypoalphalipoproteinemia
: code 425
Familial hypocalciurichypercalcemia
: code 405
Familial hypocalciurichypercalcemia type 1
: code 93372
Familial hypocalciurichypercalcemia type 2
: code 101049
Familial hypocalciurichypercalcemia type 3
: code 101050
Familial hypodysfibrinogenemia
: code 248408
Familial hypofibrinogenemia
: code 101041
Familial hypospadias
: code 440
Familial IBSN
: code 225154
Familial idiopathic dilatation of theright atrium
: code 1677
Familial idiopathic nephroticsyndrome
: code 656
Familial idiopathic steroid-resistantnephrotic syndrome
: code 656
Familial idiopathic steroid-resistant nephrotic syndrome with diffusemesangial proliferation
: code 93214
Familial idiopathic steroid-resistant nephrotic syndrome with diffusemesangial sclerosis
: code 93217
Familial idiopathic steroid-resistant nephrotic syndrome with focalsegmental glomerulosclerosis
: code 93213
Familial idiopathic steroid-resistant nephrotic syndrome with focalsegmental hyalinosis
: code 93213
Familial idiopathic steroid-resistant nephrotic syndrome with minimalchanges
: code 93216
Familial infantile bilateral striatalnecrosis
: code 225154
Familial infantile gigantism
: code 300373
Familial infantile gigantism due to apoint mutation
: code 448348
Familial infantile gigantism due todup(X)q(26)
: code 448372
Familial infantile gigantism due toXq26 microduplication
: code 448372
Familial infantile hypercalcemia with suppressed intact parathyroidhormone
: code 300547
Familial infantile myoclonic
: code 352582
Familial infantile myoclonusepilepsy
: code 352582
Familial infantile striatonigraldegeneration
: code 225154
Familial infantile striatonigralnecrosis
: code 225154
Familial intestinal malrotation
: code 508410
Familial intestinal malrotation-facial anomalies syndrome
: code 2454
Familial intestinal polyatresiasyndrome
: code 2300
Familial intracranial saccularaneurysm
: code 231160
Familial isolated arrhythmogenicright ventricular cardiomyopathy
: code 217656
Familial isolated arrhythmogenicright ventricular dysplasia
: code 217656
Familial isolated arrhythmogenicventricular cardiomyopathy
: code 217656
Familial isolated arrhythmogenic ventricular cardiomyopathy biventricular form
: code 293899
Familial isolated arrhythmogenic ventricular cardiomyopathy classicform
: code 293910
Familial isolated arrhythmogenic ventricular cardiomyopathy leftdominant form
: code 293888
Familial isolated arrhythmogenic ventricular cardiomyopathy rightdominant form
: code 293910
Familial isolated arrhythmogenicventricular dysplasia
: code 217656
Familial isolated arrhythmogenic ventricular dysplasia biventricularform
: code 293899
Familial isolated arrhythmogenicventricular dysplasia classic form
: code 293910
Familial isolated arrhythmogenic ventricular dysplasia left dominantform
: code 293888
Familial isolated arrhythmogenic ventricular dysplasia rightdominant form
: code 293910
Familial isolated ARVC
: code 217656
Familial isolated ARVD
: code 217656
Familial isolated clinodactyly offingers
: code 295014
Familial isolated congenitalasplenia
: code 101351
Familial isolated dilatedcardiomyopathy
: code 154
Familial isolatedhyperparathyroidism
: code 99879
Familial isolated
: code 2238
Familial isolated hypoparathyroidism due to agenesisof parathyroid gland
: code 2239
Familial isolated hypoparathyroidism due toimpaired PTH secretion
: code 189466
Familial isolated pituitary adenoma
: code 314777
Familial isolated prolactin receptordeficiency
: code 397685
Familial isolated restrictivecardiomyopathy
: code 75249
Familial isolated trichomegaly
: code 411788
Familial isolated vitamin Edeficiency
: code 96
Familial joint instability syndrome
: code 2295
Familial joint laxity
: code 2295
Familial juvenile gigantomastia
: code 180176
Familial juvenile gouty nephropathy
: code 209886
Familial juvenile hypertrophy of thebreast
: code 180176
Familial juvenile hyperuricemicnephropathy type 1
: code 209886
Familial juvenile hyperuricemicnephropathy type 2
: code 217330
Familial keratoacanthoma
: code 493
Familial keratoconus with cataract
: code 293936
Familial lambdoid synostosis
: code 3267
Familial LCAT deficiency
: code 79293
Familial leiomyomatosis and renalcell cancer
: code 523
Familial leiomyomatosis cutis etuteri
: code 523
Familial leiomyomatosis with renalcarcinoma
: code 523
Familial lentigines profusa
: code 231040
Familial Lengre disease
: code 871
Familial Lev disease
: code 871
Familial Lev-Lengre disease
: code 871
Familial lipoprotein lipasedeficiency
: code 309015
Familial macular edema
: code 75381
Familial male-limited precociouspuberty
: code 3000
Familial median cleft of the upperand lower lips
: code 401942
Familial Mediterranean fever
: code 342
Familial medullary thyroidcarcinoma
: code 99361
Familial megaloblastic anemia
: code 35858
Familial melanoma
: code 618
Familial mesial temporal lobeepilepsy with febrile seizures
: code 165805
Familial mitral valve prolapse
: code 741
Familial MNG
: code 276399
Familial monosomy 7 syndrome
: code 495930
Familial MTC
: code 99361
Familial multinodular goiter
: code 276399
Familial multiple coagulation factordeficiency
: code 35909
Familial multiple cutaneousleiomyomas
: code 523
Familial multiple fibrofolliculoma
: code 338
Familial multiple lentiginessyndrome
: code 500
Familial multiple lentigines syndrome without systemicinvolvement
: code 231040
Familial multiple lipomatosis
: code 199276
Familial multiple meningioma
: code 263662
Familial multiple nevi flammei
: code 624
Familial multiple port-wine stains
: code 624
Familial multiple trichoepithelioma
: code 867
Familial nasal acilia
: code 922
Familial nephropathy with gout
: code 209886
Familial non-immunehyperthyroidism
: code 424
Familial normophosphatemictumoral calcinosis
: code 306658
Familial omphalocele syndromewith facial dysmorphism
: code 280403
Familial or idiopathic dilatedcardiomyopathy
: code 154
Familial or idiopathic restrictivecardiomyopathy
: code 75249
Familial or sporadic hemiplegicmigraine
: code 569
Familial orthostatic tachycardia due to norepinephrine transporterdeficiency
: code 443236
Familial ossifying fibroma
: code 435329
Familial osteochondritis dissecans
: code 251262
Familial osteodysplasia Andersontype
: code 2769
Familial osteoectasia
: code 2801
Familial osteonecrosis of thefemoral head
: code 86820
Familial osteosclerosis with abnormalities of the nervous systemand meninges
: code 79093
Familial pancreatic cancer
: code 1333
Familial pancreatic carcinoma
: code 1333
Familial papillary or follicularthyroid carcinoma
: code 319487
Familial papillary thyroid carcinomawith renal papillary neoplasia
: code 97290
Familial parathyroid adenoma
: code 99877
Familial parathyroids hyperplasia
: code 99878
Familial paroxysmal ataxia
: code 97
Familial paroxysmal kinesigenic
: code 98809
Familial paroxysmal polyserositis
: code 342
Familial paroxysmal ventricularfibrillation non Brugada type
: code 228140
Familial partial epilepsy withvariable foci
: code 98820
Familial partial lipodystrophy type1
: code 79084
Familial partial lipodystrophy type2
: code 2348
Familial partial lipodystrophy type3
: code 79083
Familial partial lipodystrophy Dunnigan type
: code 2348
Familial partial lipodystrophy Kbberling type
: code 79084
Familial patent arterial duct
: code 466729
Familial PCCD
: code 871
Familial pelvis-scapular dysplasia
: code 93333
Familial pheochromocytoma-paraganglioma
: code 29072
Familial PKD
: code 98809
Familial platelet disorder withassociated myeloid malignancy
: code 71290
Familial platelet syndrome withpredisposition to acute myelogenous leukemia
: code 71290
Familial polymorphous lighteruption of American Indians
: code 330061
Familial polyposis coli
: code 733
Familial polyposis coli due tomonosomy 5q22.2
: code 261584
Familial porencephaly
: code 99810
Familial porphyria cutanea tarda
: code 443062
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocularinvolvement
: code 2196
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severeocular involvement
: code 31043
Familial primary hypomagnesemia with normocalciuria andnormocalcemia
: code 34527
Familial primary localizedcutaneous amyloidosis
: code 353220
Familial primary self-healing squamous epithelioma of the skin Ferguson-Smith type
: code 65748
Familial progressive cardiacconduction defect
: code 871
Familial progressive heart block
: code 871
Familial progressive hyper- andhypopigmentation
: code 280628
Familial progressive
: code 79146
Familial progressive retinal dystrophy-iris coloboma-congenitalcataract syndrome
: code 488197
Familial progressive subcorticalgliosis
: code 313808
Familial progressivevestibulocochlear dysfunction
: code 1767
Familial prostate cancer
: code 1331
Familial pseudohyperkalemia
: code 90044
Familial pseudohyperkalemia type1
: code 3202
Familial pterygium of theconjunctiva
: code 2989
Familial pulmonary arterialhypertension
: code 275777
Familial pure nonmedullary thyroidcarcinoma
: code 319487
Familial pyrimidinemia
: code 1675
Familial reactive perforatingcollagenosis
: code 79147
Familial rectal pain
: code 46348
Familial recurrent arthritis
: code 69126
Familial recurrent Bell palsy
: code 2809
Familial recurrent peripheral facialpalsy
: code 2809
Familial renal amyloidosis
: code 85450
Familial renal amyloidosis due toapolipoprotein A-I variant
: code 93560
Familial renal amyloidosis due toapolipoprotein A-II variant
: code 238269
Familial renal amyloidosis due tolysozyme variant
: code 93561
Familial renal glucosuria
: code 69076
Familial retinal arterialmacroaneurysm
: code 284247
Familial rhabdoid tumor
: code 231108
Familial Rosa-Dorfman disease
: code 168569
Familial scaphocephaly syndrome McGillivray type
: code 168624
Familial scaphocephaly-radioulnarsynostosis syndrome
: code 171839
Familial Scheuermann disease
: code 3135
Familial Scheuermann juvenilekyphosis
: code 3135
Familial schizencephaly
: code 481986
Familial SHML
: code 168569
Familial short QT syndrome
: code 51083
Familial sick sinus syndrome
: code 166282
Familial sinus histiocytosis withmassive lymphadenopathy
: code 168569
Familial sinus node dysfunction
: code 166282
Familial SLE
: code 300345
Familial spinal osteochondrosis
: code 3135
Familial spontaneous
: code 2903
Familial startle disease
: code 3197
Familial steroid-resistant nephroticsyndrome with adrenal insufficiency
: code 506334
Familial steroid-resistant nephrotic syndrome with sensorineuraldeafness
: code 280406
Familial streblodactyly with amino-aciduria
: code 1325
Familial supernumerary nipples
: code 2456
Familial syringomyelia
: code 370034
Familial systemic lupuserythematosus
: code 300345
Familial TAAD
: code 91387
Familial temporal lobe epilepsy
: code 98819
Familial thoracic aortic aneurysmand aortic dissection
: code 91387
Familial thrombocythemia
: code 71493
Familial thrombocytosis
: code 71493
Familial thrombocytosis withtransverse limb defect
: code 329319
Familial thrombomodulinanomalies
: code 3324
Familial thyroglossal duct cyst
: code 93953
Familial thyroiddyshormonogenesis
: code 95716
Familial trembling of the chin
: code 53372
Familial TTP
: code 93583
Familial tumoral calcinosis
: code 53715
Familial vesicoureteral reflux
: code 289365
Familial visceral myopathy
: code 2604
Familial vocal cord dysfunction
: code 2808
Familial VUR
: code 289365
Familial woolly hair syndrome
: code 170
Familial wooly hair syndrome
: code 170
FAMM-PC syndrome
: code 404560
FAMMM syndrome
: code 404560
Fanconi anemia
: code 84
Fanconi pancytopenia
: code 84
Fanconi syndrome-ichthyosis-dysmorphism syndrome
: code 2697
Fanconi-Bickel disease
: code 2088
FAP
: code 733
FAP due to monosomy 5q22.2
: code 261584
Fara-Chlupackova syndrome
: code 2792
Farber disease
: code 333
Farber lipogranulomatosis
: code 333
Farmer’s lung disease
: code 99906
FAS
: code 1915
FAS deficiency
: code 3261
FASD
: code 1915
FASPS
: code 164736
FASTKD2-related infantilemitochondrial encephalomyopathy
: code 166105
Fatal congenital hypertrophic cardiomyopathy due to glycogenstorage disease
: code 439854
Fatal congenital hypertrophiccardiomyopathy due to glycogenosis
: code 439854
Fatal congenital hypertrophiccardiomyopathy due to GSD
: code 439854
Fatal familial insomnia
: code 466
Fatal infantile cardioencephalomyopathy due tocytochrome C oxidase deficiency
: code 1561
Fatal infantile COX deficiency
: code 1561
Fatal infantile cytochrome Coxidase deficiency
: code 1561
Fatal infantile encephalopathy with mitochondrial respiratory chaindefects
: code 166073
Fatal infantile encephalopathy witholivopontocerebellar hypoplasia
: code 166063
Fatal infantile encephalopathy-pulmonary hypertension syndrome
: code 370114
Fatal infantile HCM due tomitochondrial complex I deficiency
: code 289527
Fatal infantile hypertonicmyofibrillar myopathy
: code 280553
Fatal infantile hypertrophic cardiomyopathy due tomitochondrial complex I deficiency
: code 289527
Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency
: code 289527
Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQreductase deficiency
: code 289527
Fatal infantile lactic acidosis withmethylmalonic aciduria
: code 17
Fatal mitochondrial disease due to combined oxidativephosphorylation defect type 3
: code 168566
Fatal mitochondrial disease due toCOXPD3
: code 168566
Fatal post-viral neurodegenerativedisorder
: code 391343
FATCO syndrome
: code 2492
Fatty acid alcohol oxidoreductasedeficiency
: code 816
Fatty acid hydroxylase-associatedneurodegeneration
: code 329308
Faulk-Epstein-Jones syndrome
: code 2064
Fazio-Londe disease
: code 97229
FBH
: code 405
FBHH
: code 405
FBLN1-related developmental delay-central nervous systemanomaly-syndactyly syndrome
: code 404451
FCAS
: code 47045
FCAS2
: code 247868
FCCTX
: code 440437
FCD
: code 98970
FCD type I
: code 268961
FCD type Ia
: code 268973
FCD type Ib
: code 268980
FCD type Ic
: code 268987
FCD type II
: code 268994
FCD type IIa
: code 269001
FCD type IIb
: code 269008
FCMD
: code 272
FCMTE
: code 86814
FCPD
: code 99654
FCS syndrome
: code 3071
FCU
: code 47045
FD
: code 324
FDFM
: code 324588
FDGC
: code 26106
FDLAB syndrome
: code 412022
Febrile infection-related epilepsysyndrome
: code 163703
FECD
: code 98974
Fechtner syndrome
: code 182050
FED
: code 79292
Feer disease
: code 247165
Fehr corneal dystrophy
: code 98969
Feigenbaum-Bergeron-Richardsonsyndrome
: code 1192
Feingold syndrome
: code 1305
Feingold syndrome type 1
: code 391641
Feingold syndrome type 2
: code 391646
Fellman disease
: code 53693
Felty syndrome
: code 47612
Female infertility due to oocytemeiotic arrest
: code 488191
Female infertility due to zonapellucida defect
: code 404466
Female pseudohermaphroditism-anorectal anomalies syndrome
: code 2973
Female pseudohermaphroditism-skeletal anomalies syndrome
: code 2975
Female restricted epilepsy withintellectual disability
: code 101039
Femoral agenesis/hypoplasia
: code 1987
Femoral head epiphysiolysis
: code 399329
Femoral hypoplasia-unusual faciessyndrome
: code 1988
Femoral intercalary meromelia
: code 1987
Femoral-facial syndrome
: code 1988
Femorotibiofibular intercalarytransverse meromelia
: code 294977
Femur-fibula-ulna complex
: code 2019
Femur-fibula-ulna dysostosis
: code 2019
Femur-fibula-ulna syndrome
: code 2019
Fenestrae parietales symmetricae
: code 60015
FENIB
: code 85110
Fenton-Wilkinson-Toselanosyndrome
: code 1184
FEOM
: code 45358
FEPS
: code 391384
Ferguson-Smith disease
: code 65748
Ferlini-Ragno-Calzolari syndrome
: code 2180
Ferritin-related neurodegeneration
: code 157846
Ferro-cerebro-cutaneous syndrome
: code 397922
Ferroportin disease
: code 139491
Fetal acitretin/etretinate syndrome
: code 40366
Fetal akinesia deformationsequence
: code 994
Fetal akinesia-cerebral and retinalhemorrhage syndrome
: code 363409
Fetal alcohol spectrum disorders
: code 1915
Fetal alcohol syndrome
: code 1915
Fetal aminopterin syndrome
: code 1908
Fetal anasarca
: code 1041
Fetal and neonatal alloimmunethrombocytopenia
: code 853
Fetal carbamazepine syndrome
: code 370076
Fetal cocaine syndrome
: code 1911
Fetal cytomegalovirus syndrome
: code 294
Fetal dihydantoin syndrome
: code 1912
Fetal encasement syndrome
: code 465824
Fetal face syndrome
: code 97360
Fetal Gaucher disease
: code 85212
Fetal hydantoin syndrome
: code 1912
Fetal hydrops
: code 1041
Fetal indomethacin syndrome
: code 1909
Fetal iodine syndrome
: code 1910
Fetal left ventricular aneurysm
: code 1055
Fetal lung interstitial tumor
: code 284362
Fetal methylmercury syndrome
: code 1917
Fetal minoxidil syndrome
: code 1918
Fetal parvovirus syndrome
: code 295
Fetal rubella syndrome
: code 290
Fetal thalidomide syndrome
: code 3312
Fetal trimethadione syndrome
: code 1913
Fetal valproate syndrome
: code 1906
Fetal valproic acid syndrome
: code 1906
Fetal-onset olivopontocerebellarhypoplasia
: code 166068
Feto-fetal transfusion syndrome
: code 95431
Fetomaternal alloimmunizationwith antenatal glomerulopathies
: code 69063
Fever-associated acute infantileliver failure syndrome
: code 464724
Fever-induced refractory epileptic encephalopathy in school-agedchildren
: code 163703
FEVR
: code 891
FFA
: code 254492
FFDD
: code 398166
FFDD1
: code 79133
FFDD2
: code 398173
FFDD3
: code 1807
FFDD4
: code 398189
FFDD type I
: code 79133
FFDD type II
: code 398173
FFDD type III
: code 1807
FFDD type IV
: code 398189
FFEVF
: code 98820
FFS
: code 1988
FFU complex
: code 2019
FG syndrome type 1
: code 93932
FGFR2-related bent bone dysplasia
: code 313855
FGLDS
: code 1305
FGLDS1
: code 391641
FGLDS2
: code 391646
FH1
: code 403
FH2
: code 404
FH3
: code 251274
FH-I
: code 403
FH-II
: code 404
FH-III
: code 251274
FHC
: code 168569
FHCC
: code 401920
FHH
: code 405
FHH type 1
: code 93372
FHH type 2
: code 101049
FHH type 3
: code 101050
FHHA1
: code 99763
FHHA2
: code 99764
FHHNC with severe ocularinvolvement
: code 2196
FHHNC without severe ocularinvolvement
: code 31043
FHI
: code 263479
FHONDA syndrome
: code 397618
FHUFS
: code 1988
Fibrillary astrocytoma
: code 251601
Fibrin-stabilizing factor deficiency
: code 331
Fibrinogen A alpha-chainamyloidosis
: code 93562
Fibrinous bronchitis
: code 439881
Fibroblastic rheumatism
: code 477650
Fibrocalculous pancreatic diabetes
: code 99654
Fibrocalculous pancreatopathy
: code 99654
Fibrochondrogenesis
: code 2021
Fibrodysplasia ossificansprogressiva
: code 337
Fibrofolliculomas withtrichodiscomas and acrochordons
: code 122
Fibrolamellar hepatocarcinoma
: code 401920
Fibrolamellar hepatocellular
: code 401920
Fibromyxosarcoma
: code 79105
Fibronectin glomerulopathy
: code 84090
Fibrosarcoma
: code 2030
Fibrosing mediastinitis
: code 63999
Fibrous dysplasia of bone
: code 249
Fibular aplasia-complexbrachydactyly syndrome
: code 2639
Fibular aplasia-ectrodactylysyndrome
: code 1118
Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
: code 2492
Fibular dimelia-diplopodiasyndrome
: code 1757
Fibular hemimelia
: code 93323
Fibular hypoplasia or aplasia- femoral bowing-oligodactylysyndrome
: code 2854
Fibular longitudinal meromelia
: code 93323
Fibulo-ulnar hypoplasia-renalanomalies syndrome
: code 2256
FIC1 deficiency
: code 79306
Fiessinger-Leroy disease
: code 29207
Fiessinger-Leroy-Reiter syndrome
: code 29207
Figuera syndrome
: code 2756
FIHPT
: code 99879
Filippi syndrome
: code 3255
FILS syndrome
: code 352712
FIME
: code 352582
Fine-Lubinsky syndrome
: code 1272
Finger hyperphalangy-toe anomalies-severe pectus excavatumsyndrome
: code 369979
Fingerprint body myopathy
: code 97232
Finkel disease
: code 209335
Finlay-Marks syndrome
: code 2036
Finnish congenital nephrosis
: code 839
Finnish tibial muscular dystrophy
: code 609
Finnish upper limb-onset distalmyopathy
: code 399086
Finucane-Kurtz-Scott syndrome
: code 1825
FIPA
: code 314777
FIRES
: code 163703
First branchial arch syndrome
: code 141136
First branchial cleft anomaly
: code 141013
First branchial cleft cyst
: code 141013
First branchial cleft fistula
: code 141013
Fish-eye disease
: code 79292
Fisher syndrome
: code 98919
Fistulous vegetative verrucoushydradenoma
: code 840
Fitzsimmons-McLachlan-Gilbertsyndrome
: code 2824
Fitzsimmons-Walson-Mellorsyndrome
: code 2820
Fixed drug eruption
: code 293812
Fixed subaortic stenosis
: code 3092
FJHN type 1
: code 209886
FJHN type 2
: code 217330
Flat face-microstomia-ear anomalysyndrome
: code 1968
FLD
: code 79293
Flea-borne typhus
: code 83315
Fleck corneal dystrophy
: code 98970
Flegel disease
: code 409
FLIT
: code 284362
Floating-Harbor syndrome
: code 2044
Florid cemento-osseous dysplasia
: code 83451
Florid osseous dysplasia
: code 83451
FLOTCH syndrome
: code 2045
FLP
: code 199306
Fluctuating myotonia
: code 99734
Fluke infection
: code 1685
Flynn-Aird syndrome
: code 2047
FMAIG
: code 69063
FMF
: code 342
FMNG
: code 276399
FMPP
: code 3000
FNMTC
: code 319487
Foamy myocardial transformationof infancy
: code 137675
FOAR syndrome
: code 2143
Focal acral hyperkeratosis
: code 308013
Focal cemento-osseous dysplasia
: code 83451
Focal dermal hypoplasia
: code 2092
Focal epilepsy-intellectual disability-cerebro-cerebellarmalformation
: code 352587
Focal epilepsy-intellectual disability-dysarthria-ataxiasyndrome
: code 352587
Focal facial dermal dysplasia
: code 398166
Focal facial dermal dysplasia 1 Brauer type
: code 79133
Focal facial dermal dysplasia 2 Brauer-Setleis type
: code 398173
Focal facial dermal dysplasia 3 Setleis type
: code 1807
Focal facial dermal dysplasia 4
: code 398189
Focal facial dermal dysplasia type 1
: code 79133
Focal facial dermal dysplasia type I
: code 79133
Focal facial dermal dysplasia type II
: code 398173
Focal facial dermal dysplasia type III
: code 1807
Focal facial dermal dysplasia type IV
: code 398189
Focal facial preauricular dysplasia
: code 398189
Focal myoclonus of face
: code 221083
Focal myositis
: code 48918
Focal nodular myositis
: code 48918
Focal palmoplantar and gingival
: code 2200
Focal palmoplantar and gingivalkeratoderma
: code 2200
Focal palmoplantar keratodermawith joint keratoses
: code 370002
Focal stiff limb syndrome
: code 443804
Focal stiff-person syndrome
: code 443804
Foix-Alajouanine syndrome
: code 79093
Foix-Chavany-Marie syndrome
: code 2048
Folinic acid-responsive seizures
: code 79097
Follicular atrophoderma and basalcell carcinomas
: code 113
Follicular atrophoderma-basal cellcarcinoma
: code 79459
Follicular cholangitis andpancreatitis
: code 300552
Follicular dendritic cell sarcoma
: code 86902
Follicular dyskeratoma
: code 69745
Follicular lichen planus
: code 525
Follicular lymphoma
: code 545
Follicular pancreatocholangitis
: code 300552
Follicular stimulating hormone-resistant ovaries
: code 243
Folliculitis ulerythematosareticulate
: code 79100
Folliculotropic mycosis fungoides
: code 178512
Foodborne botulism
: code 228371
Foot contractures-muscle atrophy-oculomotor apraxia syndrome
: code 3454
FOP
: code 337
Foramina parietalia permagna
: code 60015
Forbes disease
: code 366
Foregut duplication cyst of thetongue
: code 141071
Formiminoglutamic aciduria
: code 51208
Formiminotransferasecyclodeaminase deficiency
: code 51208
Forney syndrome
: code 3238
Forney-Robinson-Pascoe syndrome
: code 3238
Forsius-Eriksson syndrome
: code 178333
Forsius-Eriksson type ocularalbinism
: code 178333
FOSMN syndrome
: code 85162
Fountain syndrome
: code 3219
Fourth branchial cleft anomaly
: code 141037
Fourth branchial cleft cyst
: code 141037
Fourth branchial cleft fistula
: code 141037
Foveal hypoplasia-optic nerve decussation defect-anteriorsegment dysgenesis syndrome
: code 397618
Foveal hypoplasia-presenilecataract syndrome
: code 2253
Fowler syndrome
: code 221126
Fowler-Christmas-Chapplesyndrome
: code 2795
FOXN1 deficiency
: code 169095
FOXP2-associated dysphasia
: code 1799
FPAH
: code 275777
FPD/AML syndrome
: code 71290
FPHH
: code 280628
FPLCA
: code 353220
FPLD1
: code 79084
FPLD2
: code 2348
FPLD3
: code 79083
FPLD4
: code 280356
FPLD5
: code 435651
FPLD6
: code 435660
FPS/AML syndrome
: code 71290
FPSG
: code 313808
FRA
: code 69126
Fragile X syndrome
: code 908
Fragile X-associated tremor/ataxiasyndrome
: code 93256
FRAM
: code 284247
Franceschetti-Klein syndrome
: code 861
Franek-Bocker-Kahlen syndrome
: code 2523
Frank-Ter Haar syndrome
: code 137834
Franklin disease
: code 100026
Franois dyscephalic syndrome
: code 2108
Franois syndrome
: code 79149
Franois-Neetens speckled cornealdystrophy
: code 98970
Fraser syndrome
: code 2052
Fraser-like syndrome
: code 2052
Frasier syndrome
: code 347
FraX syndrome
: code 908
FRAXA syndrome
: code 908
FRAXE intellectual disability
: code 100973
FRAXF syndrome
: code 100974
FRDA
: code 95
Free sialic acid storage disease
: code 834
Free sialic acid storage disease infantile form
: code 309324
Freeman-Sheldon syndrome
: code 2053
Freeman-Sheldon syndrome variant
: code 1147
Freire Maia-Pinheiro-Opitzsyndrome
: code 2673
Freire-Maia syndrome
: code 2723
Frias syndrome
: code 264200
Fried syndrome
: code 85335
Fried-Goldberg-Mundel syndrome
: code 2487
Friedman-Goodman syndrome
: code 1969
Friedreich ataxia
: code 95
Friedreich-like ataxia
: code 96
Fried’s tooth and nail syndrome
: code 99672
Frontal encephalocele
: code 1931
Frontal fibrosing alopecia
: code 254492
Frontofacionasal dysplasia
: code 1791
Frontometaphyseal dysplasia
: code 1826
Frontonasal arteriovenousmalformation
: code 141168
Frontonasal dysplasia type 1
: code 391474
Frontonasal dysplasia type 2
: code 228390
Frontonasal dysplasia type 3
: code 306542
Frontonasal dysplasia with alopeciaand genital abnomality
: code 228390
Frontonasal dysplasia with alopeciaand genital anomaly
: code 228390
Frontonasal dysplasia-severe microphthalmia-severe facialclefting syndrome
: code 306542
Frontorhiny
: code 391474
Frontotemporal dementia withamyotrophic lateral sclerosis
: code 275872
Frontotemporal dementia withmotor neuron disease
: code 275872
Frontotemporal dementia righttemporal atrophy variant
: code 293848
Froster-Huch syndrome
: code 2141
Froster-Iskenius-Waterson-Hallsyndrome
: code 2215
Fructokinase deficiency
: code 2056
Fructose-1 6-bisphosphatasedeficiency
: code 348
Frydman-Cohen-Karmon syndrome
: code 2057
Fryns macrocephaly
: code 2429
Fryns microphthalmia syndrome
: code 1104
Fryns syndrome
: code 2059
Fryns-Aftimos syndrome
: code 2995
Fryns-Hofkens-Fabry syndrome
: code 2497
Fryns-Smeets-Thiry syndrome
: code 2058
FS
: code 1305
FS1
: code 391641
FS2
: code 391646
FSH dystrophy
: code 269
FSH-RO
: code 243
FSHD
: code 269
FTCD deficiency
: code 51208
FTD-ALS
: code 275872
FTD-MND
: code 275872
FTH1-associated iron overload
: code 247790
FTH1-related iron overload
: code 247790
Fuchs endothelial cornealdystrophy
: code 98974
Fuchs heterochromic iridocyclitis
: code 263479
Fucosidosis
: code 349
Fuhrmann syndrome
: code 2854
Fuhrmann-Rieger-de Sousasyndrome
: code 2854
Fukuda-Miyanomae-Nakatasyndrome
: code 85199
Fukuhara syndrome
: code 551
Fukuyama congenital musculardystrophy
: code 272
Fulminant hepatic failure
: code 90062
Fulminant viral hepatitis
: code 35063
Fumarase deficiency
: code 24
Fumaric aciduria
: code 24
Fumarylacetoacetase deficiency
: code 882
Fumarylacetoacetate hydrolasedeficiency
: code 882
Functional methionine synthasedeficiency
: code 622
Functional methionine synthasedeficiency type cblDv1
: code 308380
Functional methionine synthasedeficiency type cblE
: code 2169
Functional methionine synthasedeficiency type cblG
: code 2170
Functioning gonadotropic adenoma
: code 91348
Functioning pituitary gonadotropicadenoma
: code 91348
Fundus albipunctatus
: code 227796
Fundus flavimaculatus
: code 827
Fundus pulverulentus
: code 99004
Fungal myositis
: code 207000
Furlong syndrome
: code 60030
Furukawa-Takagi-Nakao syndrome
: code 2579
Furuncular myiasis
: code 591
Furunculoid myiasis
: code 591
Furunculous myiasis
: code 591
Fusariosis
: code 228119
Fusarium infection
: code 228119
Fused mandibular incisors
: code 2287
Fusion of metacarpals 4 and 5
: code 2498
FV and FVIII combined deficiency
: code 35909
FXS
: code 908
FXTAS syndrome
: code 93256
G6P deficiency
: code 364
G6P deficiency type 1a
: code 79258
G6P deficiency type Ib
: code 79259
G6P translocase deficiency
: code 79259
G6PT deficiency
: code 79259
GA1
: code 25
GABA transaminase deficiency
: code 2066
GABEB
: code 79402
Gabriele de Vries syndrome
: code 506358
Gaisbck syndrome
: code 90041
Galactocerebrosidase deficiency
: code 487
Galactokinase deficiency
: code 79237
Galactokinase deficiencygalactosemia
: code 79237
Galactosamine-6-sulfatasedeficiency
: code 309297
Galactose epimerase deficiency
: code 79238
Galactose-1-phosphateuridyltransferase deficiency
: code 79239
Galactosemia type 1
: code 79239
Galactosemia type 2
: code 79237
Galactosemia type 3
: code 79238
Galactosialidosis
: code 351
Galactosylceramidase deficiency
: code 487
Galactosyltransferase I deficiency
: code 75496
GALC deficiency
: code 487
GALE deficiency
: code 79238
GALE-D
: code 79238
GALK deficiency
: code 79237
GALK-D
: code 79237
Gallbladder neuroendocrine tumor
: code 100086
Galloway syndrome
: code 2065
Galloway-Mowat syndrome
: code 2065
GALNS deficiency
: code 309297
GALT deficiency
: code 79239
Gamborg-Nielsen syndrome
: code 2325
Game-Friedman-Paradice syndrome
: code 3035
Gamma-aminobutyric acidtransaminase deficiency
: code 2066
Gamma-cystathionase deficiency
: code 212
Gamma-glutamyl transpeptidasedeficiency
: code 33573
Gamma-glutamylcysteinesynthetase deficiency
: code 33574
Gamma-HCD
: code 100026
Gamma-heavy chain disease
: code 100026
Gamma-hydroxybutyric aciduria
: code 22
Gamma-sarcoglycanopathy
: code 353
Gamstorp disease
: code 682
Gamstorp episodic adynamy
: code 682
GAMT deficiency
: code 382
GAN
: code 643
Gangliocytoma
: code 251937
Ganglioglioma
: code 251949
Ganglioneuroblastoma
: code 251877
Ganglioneuroma
: code 251992
GAPO syndrome
: code 2067
GAPPS
: code 314022
Garcia-Lurie syndrome
: code 3469
Gardner syndrome
: code 79665
Gardner-Diamond syndrome
: code 324636
Gardner-Silengo-Wachtel syndrome
: code 2075
Gass disease
: code 99000
Gastric adenocarcinoma andproximal polyposis of the stomach
: code 314022
Gastric carcinoma salivary glandtype
: code 423781
Gastric duplication cyst of thetongue
: code 141071
Gastric intrinsic factor deficiency
: code 332
Gastric linitis plastica
: code 36273
Gastric NET
: code 100075
Gastric neuroendocrine tumor
: code 100075
Gastric squamous cell carcinoma
: code 418959
Gastrinoma
: code 913
Gastrocutaneous syndrome
: code 2069
Gastrointestinal polyposis-ectodermal changes syndrome
: code 2930
Gastrointestinal polyposis-skin pigmentation-alopecia-fingernailchanges syndrome
: code 2930
Gastrointestinal stromal sarcoma
: code 44890
Gastrointestinal stromal tumor
: code 44890
Gastroschisis
: code 2368
Gaucher disease
: code 355
Gaucher disease type 1
: code 77259
Gaucher disease type 2
: code 77260
Gaucher disease type 3
: code 77261
Gaucher disease type 3C
: code 2072
Gaucher disease subacuteneuronopathic type
: code 77261
Gaucher disease-ophthalmoplegia- cardiovascular calcificationsyndrome
: code 2072
Gaucher-like disease
: code 2072
GBE deficiency adultneuromuscular form
: code 308712
GBE deficiency childhood combined hepatic and myopathicform
: code 308684
GBE deficiency childhoodneuromuscular form
: code 308698
GBE deficiency congenitalneuromuscular form
: code 308670
GBE deficiency fatal perinatalneuromuscular form
: code 308655
GBE deficiency non progressivehepatic form
: code 308638
GBE deficiency progressive hepaticform
: code 308621
GBM
: code 360
GBS acute inflammatory demyelinatingpolyradiculoneuropathic form
: code 98916
GCC
: code 329984
GCD1
: code 98962
GCD2
: code 98963
GCDHD
: code 25
GCDI
: code 98962
GCDII
: code 98963
GCGR-related hyperglucagonemia
: code 438274
GCL
: code 528
GCL4
: code 228429
GCM syndrome
: code 2095
GCPS
: code 380
GCT of bone
: code 363976
GDCD
: code 98957
GDD
: code 53697
GDE deficiency
: code 366
GDS
: code 324636
GEFS+
: code 36387
GEKA
: code 411777
Gelatinous ascites
: code 26790
Gelatinous drop-like cornealdystrophy
: code 98957
Geleophysic dwarfism
: code 2623
Geleophysic dysplasia
: code 2623
Glineau disease
: code 2073
Gelsolin amyloidosis
: code 85448
Gemignani syndrome
: code 2074
Gemistocytic astrocytoma
: code 251604
GEMSS syndrome
: code 2084
Generalized arterial calcification ofinfancy
: code 51608
Generalized atrophic benignepidermolysis bullosa
: code 79402
Generalized basal epidermolysis bullosa simplex with skin atrophy scarring and hair loss
: code 508529
Generalized basaloid follicularhamartoma syndrome
: code 168632
Generalized cervical and upper-limb-onset dystonia
: code 98806
Generalized congenitallipodystrophy
: code 528
Generalized congenitallipodystrophy type 4
: code 228429
Generalized congenitallipodystrophy with myopathy
: code 228429
Generalized deciduous skin
: code 263543
Generalized deciduous skin type A
: code 263548
Generalized deciduous skin type B
: code 263553
Generalized deciduous skin type C
: code 263558
Generalized dominant dystrophicepidermolysis bullosa
: code 231568
Generalized EBS non-Dowling-Meara type
: code 79399
Generalized enchondromatosiswith platyspondyly
: code 99647
Generalized epidermolysis bullosasimplex non-Dowling-Meara type
: code 79399
Generalized epilepsy with febrileseizures-plus
: code 36387
Generalized epilepsy-paroxysmaldyskinesia syndrome
: code 79137
Generalized epimerase deficiencygalactosemia
: code 308487
Generalized eruptive histiocytoma
: code 157991
Generalized eruptive histiocytosis
: code 157991
Generalized eruptivekeratoacanthoma
: code 411777
Generalized eruptivekeratoacanthomas of Grzybowski
: code 411777
Generalized essential telangiectasia
: code 280774
Generalized exfoliative disease
: code 36236
Generalized fetal edema
: code 1041
Generalized galactose epimerasedeficiency
: code 308487
Generalized GALE deficiency
: code 308487
Generalized GALE-D
: code 308487
Generalized hematopoietichypoplasia
: code 33355
Generalized junctional epidermolysis bullosa non-Herlitztype
: code 79402
Generalized juvenilepolyposis/juvenile polyposis coli
: code 329971
Generalized lichenoid papulareruption
: code 167635
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
: code 435628
Generalized lymphatic anomaly
: code 141209
Generalized mitis RDEB
: code 89842
Generalized papular and sclerodermoid lichenmyxedematosus
: code 167635
Generalized peeling skin syndrome
: code 263543
Generalized peeling skin syndrometype A
: code 263548
Generalized peeling skin syndrometype B
: code 263553
Generalized peeling skin syndrometype C
: code 263558
Generalizedpseudohypoaldosteronism type 1
: code 171876
Generalized PSS
: code 263543
Generalized pustular psoriasis
: code 247353
Generalized resistance to thyroidhormone
: code 3221
Generalized UDP-galactose-4-epimerase deficiency
: code 308487
Generalized uridine diphosphategalactose-4-epimerase deficiency
: code 308487
Genetic hyperferritinemia withoutiron overload
: code 254704
Genetic recurrent myoglobinuria
: code 99845
Genetic transient congenitalhypothyroidism
: code 226316
Genitopalatocardiac syndrome
: code 2075
Genitopatellar syndrome
: code 85201
Genoa syndrome
: code 2163
Genochondromatosis type 1
: code 85197
Genochondromatosis type 2
: code 93398
Genome-wide paternal uniparentaldisomy mosaicism
: code 329813
Gentile syndrome
: code 1454
Genuine diffuse phlebectasia
: code 217008
Geographic corneal dystrophy
: code 98961
Geographic helicoid peripapillarychoroidopathy
: code 35686
GEPD
: code 79137
Gerhardt syndrome
: code 2808
Germ cell cancer of the cervix uteri
: code 213837
Germ cell cancer of the corpus uteri
: code 213751
German syndrome
: code 2077
Germinoma of the central nervoussystem
: code 91352
Geroderma osteodysplastica
: code 2078
Gershoni-Baruch syndrome
: code 496693
Gershoni-Baruch-Leibo syndrome
: code 1117
Gerstmann syndrome
: code 221117
Gerstmann-Straussler-Scheinkersyndrome
: code 356
Gestational choriocarcinoma
: code 99926
Gestational pemphigoid
: code 63275
GET
: code 280774
GFND
: code 84090
GH and PRL cosecreting pituitaryadenoma
: code 314769
GH receptor deficiency
: code 633
Ghosal hematodiaphyseal dysplasia
: code 1802
Ghosal syndrome
: code 1802
Ghost teeth
: code 83450
Ghrelin receptor deficiency
: code 314811
Giant adenofibroma of the breast
: code 180267
Giant axonal neuropathy
: code 643
Giant cell arteritis
: code 397
Giant cell chondrodysplasia
: code 1190
Giant cell glioblastoma
: code 251579
Giant cell histiocytomatosis
: code 139436
Giant cell tumor of bone
: code 363976
Giant congenital melanocytic nevus
: code 626
Giant hypertrophic gastritis
: code 2494
Giant pigmented hairy nevus
: code 626
Giant platelet syndrome
: code 274
Gillespie syndrome
: code 1065
Gingival fibromatosis-facialdysmorphism syndrome
: code 2025
Gingival fibromatosis- hepatosplenomegaly-otheranomalies syndrome
: code 3473
Gingival fibromatosis-hypertrichosis syndrome
: code 2026
Gingival fibromatosis-progressivedeafness syndrome
: code 2027
Gingival hypertrophy-cornealdystrophy
: code 2709
GIST
: code 44890
GIST-paraganglioma dyad
: code 97286
Gitelman syndrome
: code 358
Giuffr-Tsukahara syndrome
: code 3268
GLA
: code 141209
Glanzmann thrombasthenia
: code 849
Glass bone disease
: code 666
Glass-Chapman-Hockley syndrome
: code 53271
Glassy cell carcinoma of the cervixuteri
: code 213833
Glaucoma secondary to spherophakia/ectopia lentis andmegalocornea
: code 238763
Glaucoma-ectopia- microspherophakia-stiff joints-shortstature syndrome
: code 2084
Glaucoma-sleep apnea syndrome
: code 2085
GLB1 deficiency
: code 354
Glioblastoma
: code 360
Glioblastoma multiforme
: code 360
Glioependymal/ependymal cyst
: code 269197
Gliomatosis cerebri
: code 251582
Gliosarcoma
: code 251576
Global developmental delay-lung cysts-overgrowth-Wilms tumorsyndrome
: code 404476
Global developmental delay-neuro- ophthalmological abnormalities- seizures-intellectual disabilitysyndrome
: code 488613
Global developmental delay- osteopenia-ectodermal defectsyndrome
: code 73223
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotoniasyndrome
: code 480898
Globodontia
: code 2791
Globoid cell leukodystrophy
: code 487
Glomangiomatosis
: code 83454
Glomerulonephritis-sparse hair-telangiectasis syndrome
: code 69735
Glomerulopathy with fibronectindeposits
: code 84090
Glomus tumor
: code 391651
Glomuvenous malformation
: code 83454
Gloomy face syndrome
: code 2616
Glossopalatine ankylosis
: code 141163
Glossopharyngeal neuralgia
: code 221098
GLOW syndrome
: code 404476
GLRX5-related sideroblastic anemia
: code 255132
Glucagonoma
: code 97280
Glucagonoma syndrome
: code 97280
Glucocerebrosidase deficiency
: code 355
Glucocorticoid resistance
: code 786
Glucocorticoid-remediablealdosteronism
: code 403
Glucocorticoid-sensitivehypertension
: code 403
Glucosamine N-acetyl-6-sulfatase
: code 79272
Glucose transporter type 1deficiency
: code 71277
Glucose-galactose malabsorption
: code 35710
Glucosidase 1 deficiency
: code 79330
Glucosyltransferase 1 deficiency
: code 79320
Glucosyltransferase 2 deficiency
: code 79325
Glut1-DS
: code 71277
Glut-1 deficiency syndrome
: code 71277
Glutamate formiminotransferasedeficiency
: code 51208
Glutamate-aspartate transportdefect
: code 2195
Glutamate-cysteine ligasedeficiency
: code 33574
Glutaric acidemia type 1
: code 25
Glutaric acidemia type 2
: code 26791
Glutaric acidemia type 3
: code 35706
Glutaric aciduria type 1
: code 25
Glutaric aciduria type 2
: code 26791
Glutaric aciduria type 2 mild type
: code 394532
Glutaric aciduria type 2 severeneonatal type
: code 394529
Glutaric aciduria type 3
: code 35706
Glutaryl-CoA dehydrogenasedeficiency
: code 25
Glutaryl-CoA oxidase deficiency
: code 35706
Glutaryl-coenzyme Adehydrogenase deficiency
: code 25
Glutathione synthetase deficiency
: code 32
Glutathione synthetase deficiencywith 5-oxoprolinuria
: code 289846
Glutathione synthetase deficiencywithout 5-oxoprolinuria
: code 289849
Glutathionuria
: code 33573
Glycerol kinase deficiency adultform
: code 284414
Glycerol kinase deficiency infantileform
: code 284408
Glycerol kinase deficiency juvenileform
: code 284411
Glycerol kinase deficiency-contiguous gene syndrome
: code 261476
Glycine cleavage system L proteindeficiency
: code 255182
Glycine encephalopathy
: code 407
Glycine N-methyltransferasedeficiency
: code 289891
Glycogen storage disease due toacid maltase deficiency
: code 365
Glycogen storage disease due to acid maltase deficiency infantileonset
: code 308552
Glycogen storage disease due toacid maltase deficiency late-onset
: code 420429
Glycogen storage disease due toaldolase A deficiency
: code 57
Glycogen storage disease due toG6P deficiency
: code 364
Glycogen storage disease due toG6P deficiency type Ia
: code 79258
Glycogen storage disease due toG6P deficiency type Ib
: code 79259
Glycogen storage disease due toglucose-6-phosphatase deficiency
: code 364
Glycogen storage disease due to glucose-6-phosphatase deficiencytype Ia
: code 79258
Glycogen storage disease due to glucose-6-phosphatase deficiencytype Ib
: code 79259
Glycogen storage disease due toGLUT2 deficiency
: code 2088
Glycogen storage disease due to glycogen branching enzymedeficiency
: code 367
Glycogen storage disease due to glycogen branching enzyme deficiency adult neuromuscularform
: code 308712
Glycogen storage disease due to glycogen branching enzyme deficiency childhood combinedhepatic and myopathic form
: code 308684
Glycogen storage disease due to glycogen branching enzyme deficiency childhoodneuromuscular form
: code 308698
Glycogen storage disease due to glycogen branching enzyme deficiency congenitalneuromuscular form
: code 308670
Glycogen storage disease due to glycogen branching enzyme deficiency fatal perinatalneuromuscular form
: code 308655
Glycogen storage disease due to glycogen branching enzyme deficiency non progressive hepaticform
: code 308638
Glycogen storage disease due to glycogen branching enzymedeficiency progressive hepatic form
: code 308621
Glycogen storage disease due to glycogen debranching enzymedeficiency
: code 366
Glycogen storage disease due to hepatic glycogen synthasedeficiency
: code 2089
Glycogen storage disease due tolactate dehydrogenase deficiency
: code 2364
Glycogen storage disease due to
: code 284435
Glycogen storage disease due to lactate dehydrogenase M-subunitdeficiency
: code 284426
Glycogen storage disease due toLAMP-2 deficiency
: code 34587
Glycogen storage disease due to liver and muscle phosphorylasekinase deficiency
: code 79240
Glycogen storage disease due to liver glycogen phosphorylasedeficiency
: code 369
Glycogen storage disease due toliver glycogen synthase deficiency
: code 2089
Glycogen storage disease due to liver phosphorylase kinasedeficiency
: code 264580
Glycogen storage disease due to muscle and heart glycogen synthasedeficiency
: code 137625
Glycogen storage disease due tomuscle beta-enolase deficiency
: code 99849
Glycogen storage disease due to muscle glycogen phosphorylasedeficiency
: code 368
Glycogen storage disease due to muscle phosphofructokinasedeficiency
: code 371
Glycogen storage disease due to muscle phosphorylase kinasedeficiency
: code 715
Glycogen storage disease due tophosphoglucomutase deficiency
: code 319646
Glycogen storage disease due to phosphoglycerate kinase 1deficiency
: code 713
Glycogen storage disease due tophosphoglycerate mutase deficiency
: code 97234
Glycogen storage disease type 0a
: code 2089
Glycogen storage disease type 0b
: code 137625
Glycogen storage disease type 1
: code 364
Glycogen storage disease type 1a
: code 79258
Glycogen storage disease type 1b
: code 79259
Glycogen storage disease type 1C
: code 79259
Glycogen storage disease type 1D
: code 79259
Glycogen storage disease type 2
: code 365
Glycogen storage disease type 2 infantile onset
: code 308552
Glycogen storage disease type 2 late-onset
: code 420429
Glycogen storage disease type 3
: code 366
Glycogen storage disease type 4
: code 367
Glycogen storage disease type 4 adult neuromuscular form
: code 308712
Glycogen storage disease type 4
: code 308684
Glycogen storage disease type 4 childhood neuromuscular form
: code 308698
Glycogen storage disease type 4 congenital neuromuscular form
: code 308670
Glycogen storage disease type 4 fatal perinatal neuromuscular form
: code 308655
Glycogen storage disease type 4 non progressive hepatic form
: code 308638
Glycogen storage disease type 4 progressive hepatic form
: code 308621
Glycogen storage disease type 5
: code 368
Glycogen storage disease type 6
: code 369
Glycogen storage disease type 7
: code 371
Glycogen storage disease type 9A
: code 264580
Glycogen storage disease type 9B
: code 79240
Glycogen storage disease type 9C
: code 264580
Glycogen storage disease type 9D
: code 715
Glycogen storage disease type 9E
: code 715
Glycogen storage disease type 11
: code 2088
Glycogen storage disease type 11
: code 284426
Glycogen storage disease type 12
: code 57
Glycogen storage disease type 14
: code 319646
Glycogen storage disease type 15
: code 263297
Glycogen storage disease type I
: code 364
Glycogen storage disease type Ib
: code 79259
Glycogen storage disease type II
: code 365
Glycogen storage disease type II infantile onset
: code 308552
Glycogen storage disease type II late-onset
: code 420429
Glycogen storage disease type III
: code 366
Glycogen storage disease type IV
: code 367
Glycogen storage disease type IV adult neuromuscular form
: code 308712
Glycogen storage disease type IV childhood combined hepatic andmyopathic form
: code 308684
Glycogen storage disease type IV childhood neuromuscular form
: code 308698
Glycogen storage disease type IV congenital neuromuscular form
: code 308670
Glycogen storage disease type IV fatal perinatal neuromuscular form
: code 308655
Glycogen storage disease type IV non progressive hepatic form
: code 308638
Glycogen storage disease type IV progressive hepatic form
: code 308621
Glycogen storage disease type IXa
: code 264580
Glycogen storage disease type IXb
: code 79240
Glycogen storage disease type IXc
: code 264580
Glycogen storage disease type IXd
: code 715
Glycogen storage disease type IXe
: code 715
Glycogen storage disease type V
: code 368
Glycogen storage disease type VI
: code 369
Glycogen storage disease type VII
: code 371
Glycogen storage disease type XI
: code 2088
Glycogen storage disease type XII
: code 57
Glycogen storage disease type XIV
: code 319646
Glycogen storage disease type XV
: code 263297
Glycogen storage disease with severe cardiomyopathy due toglycogenin deficiency
: code 263297
Glycogenosis due to acid maltasedeficiency
: code 365
Glycogenosis due to acid maltasedeficiency infantile onset
: code 308552
Glycogenosis due to aldolase Adeficiency
: code 57
Glycogenosis due to glucose-6-phosphatase deficiency type 1a
: code 79258
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
: code 79259
Glycogenosis due to glucose-6-phosphatase deficiency type Ia
: code 79258
Glycogenosis due to glucose-6- phosphatase transport defect typeIb
: code 79259
Glycogenosis due to GLUT2deficiency
: code 2088
Glycogenosis due to glycogenbranching enzyme deficiency
: code 367
Glycogenosis due to glycogen branching enzyme deficiency adultneuromuscular form
: code 308712
Glycogenosis due to glycogen branching enzyme deficiency childhood combined hepatic andmyopathic form
: code 308684
Glycogenosis due to glycogen branching enzyme deficiency childhood neuromuscular form
: code 308698
Glycogenosis due to glycogen branching enzyme deficiency congenital neuromuscular form
: code 308670
Glycogenosis due to glycogen branching enzyme deficiency fatalperinatal neuromuscular form
: code 308655
Glycogenosis due to glycogenbranching enzyme deficiency non progressive hepatic form
: code 308638
Glycogenosis due to glycogen branching enzyme deficiency progressive hepatic form
: code 308621
Glycogenosis due to glycogendebranching enzyme deficiency
: code 366
Glycogenosis due to lactatedehydrogenase deficiency
: code 2364
Glycogenosis due to lactatedehydrogenase H-subunit deficiency
: code 284435
Glycogenosis due to lactate dehydrogenase M-subunitdeficiency
: code 284426
Glycogenosis due to LAMP-2deficiency
: code 34587
Glycogenosis due to liver and muscle phosphorylase kinasedeficiency
: code 79240
Glycogenosis due to liver glycogenphosphorylase deficiency
: code 369
Glycogenosis due to liverphosphorylase kinase deficiency
: code 264580
Glycogenosis due to muscle andheart glycogen synthase deficiency
: code 137625
Glycogenosis due to muscle beta-enolase deficiency
: code 99849
Glycogenosis due to muscleglycogen phosphorylase deficiency
: code 368
Glycogenosis due to musclephosphofructokinase deficiency
: code 371
Glycogenosis due to musclephosphorylase kinase deficiency
: code 715
Glycogenosis due tophosphoglucomutase deficiency
: code 319646
Glycogenosis due to phosphoglycerate kinase 1deficiency
: code 713
Glycogenosis due tophosphoglycerate mutase deficiency
: code 97234
Glycogenosis type 0a
: code 2089
Glycogenosis type 0b
: code 137625
Glycogenosis type 1
: code 364
Glycogenosis type 1b
: code 79259
Glycogenosis type 2
: code 365
Glycogenosis type 2 infantile onset
: code 308552
Glycogenosis type 2 late-onset
: code 420429
Glycogenosis type 3
: code 366
Glycogenosis type 4
: code 367
Glycogenosis type 4 adultneuromuscular form
: code 308712
Glycogenosis type 4 childhood combined hepatic and myopathicform
: code 308684
Glycogenosis type 4 childhoodneuromuscular form
: code 308698
Glycogenosis type 4 congenitalneuromuscular form
: code 308670
Glycogenosis type 4 fatal perinatalneuromuscular form
: code 308655
Glycogenosis type 4 nonprogressive hepatic form
: code 308638
Glycogenosis type 4 progressivehepatic form
: code 308621
Glycogenosis type 5
: code 368
Glycogenosis type 6
: code 369
Glycogenosis type 7
: code 371
Glycogenosis type 9A
: code 264580
Glycogenosis type 9B
: code 79240
Glycogenosis type 9C
: code 264580
Glycogenosis type 9D
: code 715
Glycogenosis type 9E
: code 715
Glycogenosis type 11
: code 284426
Glycogenosis type 12
: code 57
Glycogenosis type 13
: code 99849
Glycogenosis type 14
: code 319646
Glycogenosis type 15
: code 263297
Glycogenosis type I
: code 364
Glycogenosis type Ia
: code 79258
Glycogenosis type Ib
: code 79259
Glycogenosis type II
: code 365
Glycogenosis type II infantile onset
: code 308552
Glycogenosis type II late-onset
: code 420429
Glycogenosis type III
: code 366
Glycogenosis type IV
: code 367
Glycogenosis type IV adultneuromuscular form
: code 308712
Glycogenosis type IV childhood combined hepatic and myopathicform
: code 308684
Glycogenosis type IV childhoodneuromuscular form
: code 308698
Glycogenosis type IV congenitalneuromuscular form
: code 308670
Glycogenosis type IV fatal perinatalneuromuscular form
: code 308655
Glycogenosis type IV nonprogressive hepatic form
: code 308638
Glycogenosis type IV progressivehepatic form
: code 308621
Glycogenosis type IXa
: code 264580
Glycogenosis type IXb
: code 79240
Glycogenosis type IXc
: code 264580
Glycogenosis type IXd
: code 715
Glycogenosis type IXe
: code 715
Glycogenosis type V
: code 368
Glycogenosis type VI
: code 369
Glycogenosis type VII
: code 371
Glycogenosis type XII
: code 57
Glycogenosis type XIV
: code 319646
Glycogenosis type XV
: code 263297
Glycogenosis with severe cardiomyopathy due to glycogenindeficiency
: code 263297
Glycolic aciduria
: code 93598
GM1 gangliosidosis
: code 354
GM1 gangliosidosis type 1
: code 79255
GM1 gangliosidosis type 2
: code 79256
GM1 gangliosidosis type 3
: code 79257
GM2 gangliosidosis 0 variant
: code 796
GM2 gangliosidosis AB variant
: code 309246
GM2 gangliosidosis B variant adultform
: code 309192
GM2 gangliosidosis B variant infantile form
: code 309178
GM2 gangliosidosis B variant juvenile form
: code 309185
GM2 gangliosidosis B B1 variant
: code 845
GM2 gangliosidosis B1 variant
: code 309239
GM2 synthase deficiency
: code 101006
GMN
: code 626
GMS syndrome
: code 2090
Gnathodiaphyseal dysplasia
: code 53697
GNE myopathy
: code 602
GNET
: code 100075
GNS deficiency
: code 79272
Goblet cell adenocarcinoid
: code 329984
Goblet cell carcinoid
: code 329984
Goblet cell carcinoma
: code 329984
Goblet cell tumor
: code 329984
Goiter-deafness syndrome
: code 705
Golabi-Rosen syndrome
: code 373
Goldberg syndrome
: code 351
Goldberg-Shprintzen megacolonsyndrome
: code 66629
Goldblatt chondrodysplasia
: code 166272
Goldblatt syndrome
: code 166272
Goldblatt-Viljoen syndrome
: code 3026
Goldblatt-Wallis syndrome
: code 2261
Goldenhar syndrome
: code 374
Goldmann-Favre syndrome
: code 53540
Goldston syndrome
: code 3032
Gollop syndrome
: code 1791
Gollop-Wolfgang complex
: code 1986
Goltz syndrome
: code 2092
Goltz-Gorlin syndrome
: code 2092
Gmez-Lpez-Hernndez syndrome
: code 1532
Gonadoblastoma
: code 206484
Gonadotroph adenoma
: code 91348
Gonadotropic deficiency
: code 432
Gonadotropin-dependantprecocious puberty
: code 759
Gonadotropin-independent female-limited sexual precocity
: code 562
Goniodysgenesis-intellectualdisability-short stature syndrome
: code 2090
Gonococcal conjunctivitis
: code 1482
Gonzales-del Angel syndrome
: code 3034
Good syndrome
: code 169105
Goodman camptodactyly
: code 1321
Goodman syndrome
: code 65798
Goodpasture syndrome
: code 375
Goossens-Devriendt syndrome
: code 75389
Gordon hyperkalemia-hypertensionsyndrome
: code 757
Gordon syndrome
: code 376
Gordon-Holmes syndrome
: code 1173
Gorham disease
: code 73
Gorham syndrome
: code 73
Gorham-Stout disease
: code 73
Gorlin syndrome
: code 377
Gorlin-Chaudhry-Moss syndrome
: code 2095
Gorlin-Goltz syndrome
: code 377
GOSHS
: code 66629
GOSR2-related progressivemyoclonus ataxia
: code 280620
Gottron syndrome
: code 2500
Gowers disease
: code 59135
GPA
: code 900
gPAPP deficiency
: code 280586
GPP
: code 247353
GPS
: code 721
GPSC
: code 313808
GRA
: code 403
Gracile bone dysplasia
: code 2763
GRACILE syndrome
: code 53693
Graft versus host disease
: code 39812
Graham Little syndrome
: code 505
Graham Little-Piccardi-Lassueursyndrome
: code 505
Graham-Boyle-Troxell syndrome
: code 2111
Graham-Cox syndrome
: code 52055
Grand-Kaine-Fulling syndrome
: code 247691
Grange occlusive arterial syndrome
: code 79094
Grange syndrome
: code 79094
Grant syndrome
: code 2097
Granular corneal dystrophy type 1
: code 98962
Granular corneal dystrophy type 2
: code 98963
Granular corneal dystrophy type 3
: code 98961
Granular corneal dystrophy type I
: code 98962
Granular corneal dystrophy type II
: code 98963
Granular corneal dystrophy type III
: code 98961
Granular-lattice corneal dystrophy
: code 98963
Granulocytic sarcoma
: code 86850
Granulomatosis with polyangiitis
: code 900
Granulomatous allergic angiitis
: code 183
Granulomatous mastitis
: code 64722
Granulomatous slack skin
: code 33111
Granulosa cell cancer
: code 99915
Granulosa cell malignant tumor
: code 99915
Grsbeck-Imerslund disease
: code 35858
Gravidic intrahepatic cholestasis
: code 69665
Gray platelet syndrome
: code 721
Grayson-Wilbrandt cornealdystrophy
: code 293375
Green jaundice
: code 276405
Green monkey disease
: code 99826
Greenberg dysplasia
: code 1426
Greig cephalopolysyndactyly
: code 380
Greither disease
: code 495
GRF tumor
: code 97261
GRFoma
: code 97261
Grisart-Destre syndrome
: code 139474
Griscelli disease
: code 381
Griscelli disease type 1
: code 79476
Griscelli disease type 2
: code 79477
Griscelli disease type 3
: code 79478
Griscelli-Pruniras syndrome
: code 381
Griscelli-Pruniras syndrome type 1
: code 79476
Griscelli-Pruniras syndrome type 2
: code 79477
Griscelli-Pruniras syndrome type 3
: code 79478
Groll-Hirschowitz syndrome
: code 3217
Gronblad-Strandberg-Tourainesyndrome
: code 758
Growing teratoma syndrome
: code 314613
Growth and developmental delay- hypotonia-vision impairment-lacticacidosis syndrome
: code 391348
Growth deficiency-brachydactyly-dysmorphism syndrome
: code 264200
Growth delay due to insulin-likegrowth factor I resistance
: code 73273
Growth delay due to insulin-likegrowth factor type 1 deficiency
: code 73272
Growth delay-alopecia- pseudoanodontia-optic atrophysyndrome
: code 2067
Growth delay-aminoaciduria- cholestasis-iron overload-lacticacidosis-early death syndrome
: code 53693
Growth delay-deafness- intellectualdisability syndrome
: code 73272
Growth delay-hydrocephaly-lunghypoplasia syndrome
: code 3035
Growth hormone and prolactincosecreting pituitary adenoma
: code 314769
Growth hormone receptordeficiency
: code 633
Growth hormone releasing factortumor
: code 97261
Growth restriction-aminoaciduria- cholestasis-iron overload-lacticacidosis-early death syndrome
: code 53693
Growth retardation-mild developmental delay-chronichepatitis syndrome
: code 391366
Grubben-de Cock-Borghgraefsyndrome
: code 2101
Grzybowski syndrome
: code 411777
GSD due to acid maltase deficiency
: code 365
GSD due to acid maltase deficiency infantile onset
: code 308552
GSD due to acid maltase deficiency
: code 420429
GSD due to aldolase A deficiency
: code 57
GSD due to G6P deficiency
: code 364
GSD due to G6P deficiency type 1a
: code 79258
GSD due to G6P deficiency type Ia
: code 79258
GSD due to G6P deficiency type Ib
: code 79259
GSD due to G6PT deficiency
: code 79259
GSD due to GLUT2 deficiency
: code 2088
GSD due to glycogen branchingenzyme deficiency
: code 367
GSD due to glycogen branching enzyme deficiency adultneuromuscular form
: code 308712
GSD due to glycogen branching enzyme deficiency childhood combined hepatic and myopathicform
: code 308684
GSD due to glycogen branching enzyme deficiency childhoodneuromuscular form
: code 308698
GSD due to glycogen branching enzyme deficiency congenitalneuromuscular form
: code 308670
GSD due to glycogen branching enzyme deficiency fatal perinatalneuromuscular form
: code 308655
GSD due to glycogen branching enzyme deficiency non progressivehepatic form
: code 308638
GSD due to glycogen branching enzyme deficiency progressivehepatic form
: code 308621
GSD due to glycogen debranchingenzyme deficiency
: code 366
GSD due to hepatic glycogensynthase deficiency
: code 2089
GSD due to lactate dehydrogenasedeficiency
: code 2364
GSD due to lactate dehydrogenaseH-subunit deficiency
: code 284435
GSD due to lactate dehydrogenaseM-subunit deficiency
: code 284426
GSD due to LAMP-2 deficiency
: code 34587
GSD due to liver and musclephosphorylase kinase deficiency
: code 79240
GSD due to liver glycogenphosphorylase deficiency
: code 369
GSD due to liver phosphorylasekinase deficiency
: code 264580
GSD due to muscle and heartglycogen synthase deficiency
: code 137625
GSD due to muscle beta-enolasedeficiency
: code 99849
GSD due to muscle glycogenphosphorylase deficiency
: code 368
GSD due to muscle
: code 371
GSD due to muscle phosphorylasekinase deficiency
: code 715
GSD due to phosphoglucomutasedeficiency
: code 319646
GSD due to phosphoglyceratekinase 1 deficiency
: code 713
GSD due to phosphoglyceratemutase deficiency
: code 97234
GSD type 0a
: code 2089
GSD type 0b
: code 137625
GSD type 1
: code 364
GSD type 1 non a
: code 79259
GSD type 1a
: code 79258
GSD type 1b
: code 79259
GSD type 2
: code 365
GSD type 2 infantile onset
: code 308552
GSD type 2 late-onset
: code 420429
GSD type 3
: code 366
GSD type 4
: code 367
GSD type 4 adult neuromuscularform
: code 308712
GSD type 4 childhood combinedhepatic and myopathic form
: code 308684
GSD type 4 childhoodneuromuscular form
: code 308698
GSD type 4 congenitalneuromuscular form
: code 308670
GSD type 4 fatal perinatalneuromuscular form
: code 308655
GSD type 4 non progressive hepaticform
: code 308638
GSD type 4 progressive hepaticform
: code 308621
GSD type 5
: code 368
GSD type 6
: code 369
GSD type 7
: code 371
GSD type 9A
: code 264580
GSD type 9B
: code 79240
GSD type 9C
: code 264580
GSD type 9D
: code 715
GSD type 9E
: code 715
GSD type 10
: code 97234
GSD type 11
: code 2088
GSD type 11
: code 284426
GSD type 12
: code 57
GSD type 14
: code 319646
GSD type 15
: code 263297
GSD type I
: code 364
GSD type Ib
: code 79259
GSD type II
: code 365
GSD type II infantile onset
: code 308552
GSD type II late-onset
: code 420429
GSD type IV
: code 367
GSD type IXa
: code 264580
GSD type IXb
: code 79240
GSD type IXc
: code 264580
GSD type IXd
: code 715
GSD type IXe
: code 715
GSD type V
: code 368
GSD type VI
: code 369
GSD type VII
: code 371
GSD type XI
: code 2088
GSD type XII
: code 57
GSD type XV
: code 263297
GSD with severe cardiomyopathydue to glycogenin deficiency
: code 263297
GSDIa
: code 79258
GSDIb
: code 79259
GSDIII
: code 366
GSDIV adult neuromuscular form
: code 308712
GSDIV childhood combined hepaticand myopathic form
: code 308684
GSDIV childhood neuromuscularform
: code 308698
GSDIV congenital neuromuscularform
: code 308670
GSDIV fatal perinatalneuromuscular form
: code 308655
GSDIV non progressive hepaticform
: code 308638
GSDIV progressive hepatic form
: code 308621
GSDXIII
: code 99849
GSDXIV
: code 319646
GTP cyclohydrolase I deficiency
: code 2102
GTPCH1-deficient dopa-responsivedystonia
: code 98808
GTPCH1-deficient DRD
: code 98808
GTPCH deficiency
: code 2102
Guam disease
: code 90020
Guanarito hemorrhagic fever
: code 319234
Guanidinoacetatemethyltransferase deficiency
: code 382
Guibaud-Vainsel syndrome
: code 2785
Guillain-Barr syndrome acute inflammatory demyelinatingpolyradiculoneuropathic form
: code 98916
Guinea worm disease
: code 231
Guzar Vzquez-Luengas-Muozsyndrome
: code 1661
Guzar Vzquez-Snchez-Manzanosyndrome
: code 2104
Gunal-Seber-Basaran syndrome
: code 1562
Gnther disease
: code 79277
Gurrieri-Sammito-Bellussisyndrome
: code 1858
Guttate hypopigmentation and punctate palmoplantarkeratoderma
: code 324561
Guttmacher syndrome
: code 2957
GVH
: code 39812
GWCD
: code 293375
Gynandroblastoma
: code 99914
Gyrate atrophy of choroid andretina
: code 414
H syndrome
: code 168569
H-ABC
: code 139441
H-type tracheoesophageal fistula
: code 454750
Haberland syndrome
: code 2396
Haddad syndrome
: code 99803
Hadziselimovic syndrome
: code 217026
HAE
: code 91378
HAE 1
: code 100050
HAE 2
: code 100051
HAE 3
: code 100054
HAE-I
: code 100050
HAE-II
: code 100051
HAE-III
: code 100054
HAFF
: code 966
Hagberg-Santavuori disease
: code 79263
Hailey-Hailey disease
: code 2841
Haim-Munk syndrome
: code 2342
Hair defect-photosensitivity-intellectual disability syndrome
: code 1408
Hair-nail ectodermal dysplasia
: code 69084
Hairy cell leukemia variant
: code 300878
Hairy elbows syndrome
: code 2220
Hairy throat syndrome
: code 3387
Hajdu-Cheney syndrome
: code 955
HAL deficiency
: code 2157
Hal-Berg-Rudolph syndrome
: code 2985
Halal syndrome
: code 2521
Halal-Setton-Wang syndrome
: code 1809
Halasz syndrome
: code 185
Hall-Hittner syndrome
: code 138
Hall-Riggs syndrome
: code 2107
Hallermann-Streiff syndrome
: code 2108
Hallermann-Streiff-Franoissyndrome severe form
: code 2109
Hallermann-Streiff-like syndrome
: code 2109
Hallervorden-Spatz syndrome
: code 157850
Hallux varus-preaxialpolysyndactyly syndrome
: code 2110
HAM syndrome
: code 3453
HAM/TSP
: code 289326
Hamamy syndrome
: code 314555
Hamanishi-Ueba-Tsuji syndrome
: code 2926
Hamano-Tsukamoto syndrome
: code 1217
Hamartomatous intestinalpolyposis
: code 2869
Hamel cerebro-palato-cardiacsyndrome
: code 93946
Hamman-Rich syndrome
: code 79126
HANAC syndrome
: code 73229
Hand and foot deformity-flat faciessyndrome
: code 1927
Hand-foot-genital syndrome
: code 2438
Hand-foot-uterus syndrome
: code 2438
Hand-Schller-Christian disease
: code 99873
Hanhart syndrome
: code 989
Hanot syndrome
: code 186
Hantavirosis
: code 340
Hantavirus fever
: code 340
Hantavirus pulmonary syndrome
: code 319247
Hapnes-Boman-Skeie syndrome
: code 3294
Haptocorrin deficiency
: code 2967
Harboyan syndrome
: code 1490
Hard skin syndrome Parana type
: code 2812
HARD syndrome
: code 899
Hardcastle syndrome
: code 85182
Hardikar syndrome
: code 1415
Harding ataxia
: code 1177
Harel-Yoon syndrome
: code 496790
Harlequin ichthyosis
: code 457
Harlequin syndrome
: code 199282
HARP syndrome
: code 216866
Harrod syndrome
: code 2115
Hartnup disease
: code 2116
Hartnup disorder
: code 2116
Hartsfield syndrome
: code 2117
HAS
: code 84085
Hashimoto encephalitis
: code 83601
Hashimoto-Pritzker syndrome
: code 99872
Haspeslagh-Fryns-Muelenaeresyndrome
: code 2994
HAT
: code 3325
Hawkinsinuria
: code 2118
Hay-Wells syndrome
: code 1071
Hb Bart’s hydrops fetalis
: code 163596
HbC-beta-thalassemia syndrome
: code 231242
HbE-beta-thalassemia syndrome
: code 231249
HbH disease
: code 93616
HBID
: code 352657
HbLepore-beta-thalassemiasyndrome
: code 330032
HbS-beta-thalassemia syndrome
: code 251359
HbSC disease
: code 251365
HbSD disease
: code 251370
HbSE disease
: code 251375
HBSL
: code 363412
HCC
: code 88673
HCD
: code 86864
HCDD
: code 93556
HCHWA
: code 85458
HCHWA Arctic type
: code 324723
HCHWA Dutch type
: code 100006
HCHWA Flemish type
: code 324718
HCHWA Icelandic type
: code 100008
HCHWA Iowa type
: code 324708
HCHWA Italian type
: code 324713
HCHWA Piedmont type
: code 324703
HCHWA-D
: code 100006
HCL-C
: code 58017
HCL-v
: code 300878
HCS
: code 163690
HD-HA syndrome
: code 306741
HDGC
: code 26106
HDL1
: code 157941
HDL2
: code 98934
HDL3
: code 157946
HDL4
: code 98759
HDLS
: code 313808
HDR syndrome
: code 2237
HDV
: code 402823
HE
: code 288
Head and neck squamous cellcarcinoma
: code 67037
Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
: code 254898
Hearing loss-familial salivary gland insensitivity to aldosteronesyndrome
: code 3225
Heart defect-tongue hamartoma-polysyndactyly syndrome
: code 1338
Heart defects-limb shorteningsyndrome
: code 1354
Heart tumor of child
: code 875
Heart-hand syndrome type 1
: code 392
Heart-hand syndrome type 2
: code 1350
Heart-hand syndrome type 3
: code 1342
Heart-hand syndrome Sloveniantype
: code 168796
Heart-hand syndrome Spanish type
: code 1342
Heart-limb syndrome type 3
: code 1342
Heavy chain amyloidosis
: code 442582
Heavy chain deposition disease
: code 93556
Heavy chain disease
: code 86864
HEC syndrome
: code 2119
Hecht syndrome
: code 3377
Hecht-Beals syndrome
: code 3377
Hecht-Scott syndrome
: code 2492
HED
: code 238468
HED-ID
: code 98813
HEDH syndrome
: code 1882
Heide syndrome
: code 2787
Heimler syndrome
: code 3220
Heiner syndrome
: code 99932
Heinz body anemia
: code 178330
Helicoid peripapillary chorioretinaldegeneration
: code 86813
Heller syndrome
: code 168782
HELLP syndrome
: code 244242
HEM dysplasia
: code 1426
Hemangioblastoma
: code 252054
Hemangioma-thrombocytopeniasyndrome
: code 2330
Hematopoietic stem celltransplantation
: code 90053
Hemi 3 syndrome
: code 2128
Hemiconvulsion-hemiplegia-epilepsy syndrome
: code 86908
Hemicorporal hypertrophy
: code 2128
Hemicrania continua
: code 443070
Hemidystonia-hemiatrophysyndrome
: code 306741
Hemifacial atrophy
: code 1214
Hemifacial hyperplasia
: code 141145
Hemifacial hyperplasia-strabismussyndrome
: code 1241
Hemifacial hypertrophy
: code 141145
Hemifacial microsomia
: code 141136
Hemifacial microsomia-radialdefects syndrome
: code 2549
Hemifacial myohyperplasia
: code 141148
Hemifacial spasm
: code 221083
Hemihyperplasia-multiplelipomatosis syndrome
: code 276280
Hemimegalencephaly
: code 99802
Hemiparkinsonism-hemiatrophysyndrome
: code 306669
Hemitruncus arteriosus
: code 99050
Hemochromatosis due to defect inferroportin
: code 139491
Hemochromatosis type 2
: code 79230
Hemochromatosis type 3
: code 225123
Hemochromatosis type 4
: code 139491
Hemochromatosis type 5
: code 447792
Hemoglobin Bart’s hydrops fetalis
: code 163596
Hemoglobin C disease
: code 2132
Hemoglobin C-beta-thalassemiasyndrome
: code 231242
Hemoglobin D disease
: code 90039
Hemoglobin E disease
: code 2133
Hemoglobin E-beta-thalassemiasyndrome
: code 231249
Hemoglobin H disease
: code 93616
Hemoglobin Lepore-beta-thalassemia syndrome
: code 330032
Hemoglobin M disease
: code 330041
Hemoglobinopathy Toms River
: code 280615
Hemolysis elevated liver enzymes low platelets in pregnancy
: code 244242
Hemolysis-elevated liver enzymes-low platelets syndrome
: code 244242
Hemolytic anemia due to adenylatekinase deficiency
: code 86817
Hemolytic anemia due to diphosphoglycerate mutasedeficiency
: code 714
Hemolytic anemia due to erythrocyte adenosine deaminaseoverproduction
: code 99138
Hemolytic anemia due to glucophosphate isomerasedeficiency
: code 712
Hemolytic anemia due toglutathione reductase deficiency
: code 90030
Hemolytic anemia due to glyceraldehyde-3-phosphatedehydrogenase deficiency
: code 248305
Hemolytic anemia due to pyrimidine 5′ nucleotidasedeficiency
: code 35120
Hemolytic anemia due to red cellpyruvate kinase deficiency
: code 766
Hemolytic disease of the newbornwith Kell alloimmunization
: code 275944
Hemolytic-uremic syndrome withdiarrhea
: code 90038
Hemolytic-uremic syndromewithout diarrhea
: code 2134
Hemolytic-uremic syndrome without diarrhea with anti-factor Hantibodies
: code 93581
Hemolytic-uremic syndrome without diarrhea with B factoranomaly
: code 93578
Hemolytic-uremic syndromewithout diarrhea with C3 anomaly
: code 93575
Hemolytic-uremic syndrome without diarrhea with DGKEdeficiency
: code 357008
Hemolytic-uremic syndrome without diarrhea with H factoranomaly
: code 93579
Hemolytic-uremic syndrome without diarrhea with I factoranomaly
: code 93580
Hemolytic-uremic syndrome without diarrhea with MCP/CD46anomaly
: code 93576
Hemolytic-uremic syndrome without diarrhea withthrombomodulin anomaly
: code 217023
Hemophagocytic syndromeassociated with an infection
: code 158048
Hemophilia A
: code 98878
Hemophilia B
: code 98879
Hemophilia C
: code 329
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
: code 178396
Hemorrhagic fever-renal syndrome
: code 340
Hemorrhagiparous thrombocyticdystrophy
: code 274
Hemosiderosis of the centralnervous system
: code 247245
Hendra virus infection
: code 324632
Hennekam syndrome
: code 2136
Hennekam-Beemer syndrome
: code 2135
Henoch-Schnlein purpura
: code 761
HEP
: code 95159
Heparan sulfamidase deficiency
: code 79269
Heparan-alpha-glucosaminide N-acetyltransferase deficiency
: code 79271
Heparin-associatedthrombocytopenia
: code 3325
Heparin-induced thrombocytopenia
: code 3325
Heparin-induced thrombocytopeniatype 2
: code 3325
Hepatic carnitine palmitoyltransferase 1 deficiency
: code 156
Hepatic carnitine palmitoyltransferase I deficiency
: code 156
Hepatic cystic hamartoma
: code 386
Hepatic fibrosis-renal cysts-intellectual disability syndrome
: code 2031
Hepatic glycogen phosphorylasedeficiency
: code 369
Hepatic phosphorylase deficiency
: code 369
Hepatic solitary necrotic nodule
: code 100035
Hepatic veno-occlusive disease
: code 890
Hepatic veno-occlusive disease-immunodeficiency syndrome
: code 79124
Hepatitis B reinfection followingliver transplantation
: code 90073
Hepatitis D virus
: code 402823
Hepatitis delta
: code 402823
Hepatoblastoma
: code 449
Hepatocellular adenoma
: code 54272
Hepatocellular carcinoma
: code 88673
Hepatoencephalopathy due to combined oxidativephosphorylation defect type 1
: code 137681
Hepatoencephalopathy due toCOXPD1
: code 137681
Hepatoerythropoietic porphyria
: code 95159
Hepatolenticular degeneration
: code 905
Hepatoportal sclerosis
: code 64743
Hepatorenal glycogenosis
: code 364
Hepatorenal tyrosinemia
: code 882
Hepatosplenic T-cell lymphoma
: code 86882
Hereditary acrokeratoticpoikiloderma of Kindler-Weary
: code 306539
Hereditary acrokeratoticpoikiloderma Weary type
: code 2907
Hereditary adult-onset painfulaxonal polyneuropathy
: code 447964
Hereditary amyloid nephropathy
: code 85450
Hereditary amyloid nephropathydue to apolipoprotein A-I variant
: code 93560
Hereditary amyloid nephropathydue to apolipoprotein A-II variant
: code 238269
Hereditary amyloid nephropathy due to fibrinogen A alpha-chainvariant
: code 93562
Hereditary amyloid nephropathydue to lysozyme variant
: code 93561
Hereditary amyloidosis withprimary renal involement
: code 85450
Hereditary amyloidosis Finnishtype
: code 85448
Hereditary anetoderma
: code 228277
Hereditary angioedema
: code 91378
Hereditary angioedema type 1
: code 100050
Hereditary angioedema type 2
: code 100051
Hereditary angioedema type 3
: code 100054
Hereditary angioneurotic edema
: code 91378
Hereditary angioneurotic edematype 1
: code 100050
Hereditary angioneurotic edematype 2
: code 100051
Hereditary angioneurotic edematype 3
: code 100054
Hereditary angiopathy- nephropathy-aneurysms-musclecramps syndrome
: code 73229
Hereditary areflexic dystasia Roussy-Lvy type
: code 3115
Hereditary arterial and articularmultiple calcification syndrome
: code 289601
Hereditary articularchondrocalcinosis
: code 1416
Hereditary benign cornealintraepithelial dyskeratosis
: code 352657
Hereditary benign intraepithelialdyskeratosis
: code 352657
Hereditary bradykinine-inducedangioedema
: code 91378
Hereditary brain cavernousangioma
: code 221061
Hereditary brain cavernoushemangioma
: code 221061
Hereditary breast and ovariancancer syndrome
: code 145
Hereditary breast cancer
: code 227535
Hereditary breast carcinoma
: code 227535
Hereditary bundle branch defect
: code 871
Hereditary CAD
: code 36382
Hereditary calcium pyrophosphatedeposition
: code 1416
Hereditary CC
: code 1416
Hereditary CDI
: code 30925
Hereditary central diabetesinsipidus
: code 30925
Hereditary cerebral cavernoma
: code 221061
Hereditary cerebral cavernousmalformation
: code 221061
Hereditary cerebral hemorrhagewith amyloidosis
: code 85458
Hereditary cerebral hemorrhagewith amyloidosis Arctic type
: code 324723
Hereditary cerebral hemorrhagewith amyloidosis Dutch type
: code 100006
Hereditary cerebral hemorrhagewith amyloidosis Flemish type
: code 324718
Hereditary cerebral hemorrhagewith amyloidosis Icelandic type
: code 100008
Hereditary cerebral hemorrhagewith amyloidosis Iowa type
: code 324708
Hereditary cerebral hemorrhagewith amyloidosis Italian type
: code 324713
Hereditary cerebral hemorrhagewith amyloidosis Piedmont type
: code 324703
Hereditary ceruloplasmin deficiency
: code 48818
Hereditary cervical artery dissection
: code 36382
Hereditary chin myoclonus
: code 53372
Hereditary chin-trembling
: code 53372
Hereditary chronic pancreatitis
: code 676
Hereditary clear cell renal celladenocarcinoma
: code 422526
Hereditary clear cell renal cellcarcinoma
: code 422526
Hereditary clubfoot due to 5q31microdeletion
: code 293144
Hereditary clubfoot due to 17q23.1-q23.2 microduplication
: code 238578
Hereditary clubfoot due to PITX1point mutation
: code 293150
Hereditary combined deficiency offactors II VII IX and X
: code 98434
Hereditary combined deficiency of vitamin K-dependent clottingfactors
: code 98434
Hereditary congenital controlateralsynkinesia
: code 238722
Hereditary congenital mirrormovements
: code 238722
Hereditary continuous muscle fiberactivity
: code 972
Hereditary coproporphyria
: code 79273
Hereditary cranium bifidum
: code 60015
Hereditary cryohydrocytosis type 2
: code 168577
Hereditary cryohydrocytosis withnormal stomatin
: code 398088
Hereditary cryohydrocytosis withreduced stomatin
: code 168577
Hereditary crystalline stromaldystrophy of Schnyder
: code 98967
Hereditary cystatin C amyloidangiopathy
: code 100008
Hereditary diffuse cancer ofstomach
: code 26106
Hereditary diffuse gastricadenocarcinoma
: code 26106
Hereditary diffuse gastric cancer
: code 26106
Hereditary diffuse leukoencephalopathy with axonalspheroids and pigmented glia
: code 313808
Hereditary diffuse leukoencephalopathy withspheroids
: code 313808
Hereditary elliptocytosis
: code 288
Hereditary endotheliopathy- retinopathy-nephropathy-strokesyndrome
: code 247691
Hereditary erythroblastic multinuclearity with a positiveacidified-serum test (hempas)
: code 98873
Hereditary essential myoclonus
: code 36899
Hereditary expansile polyostoticosteolytic dysplasia
: code 85195
Hereditary ferritinopathy
: code 157846
Hereditary fibrosing poikiloderma- tendon contractures-myopathy-pulmonary fibrosis syndrome
: code 221043
Hereditary folate malabsorption
: code 90045
Hereditary fructose intolerance
: code 469
Hereditary fructose-1-phosphatealdolase deficiency
: code 469
Hereditary fructosemia
: code 469
Hereditary geniospasm
: code 53372
Hereditary gingival fibromatosis
: code 2024
Hereditary gingival hyperplasia
: code 2024
Hereditary hemorrhagictelangiectasia
: code 774
Hereditary hollow visceralmyopathy
: code 2604
Hereditary hypercarotenemia andvitamin A deficiency
: code 199285
Hereditary hypercholanemia
: code 238475
Hereditary hyperekplexia
: code 3197
Hereditary hyperexplexia
: code 3197
Hereditary hyperferritinemia withcongenital cataracts
: code 163
Hereditary hyperferritinemia-cataract syndrome
: code 163
Hereditary hyperphosphatasia
: code 2801
Hereditary hypophosphatemicrickets with hypercalciuria
: code 157215
Hereditary hypotrichosis simplex
: code 55654
Hereditary hypotrichosis simplex ofthe scalp
: code 90368
Hereditary hypotrichosis withrecurrent skin vesicles
: code 217407
Hereditary inclusion bodymyopathy type 2
: code 602
Hereditary inclusion bodymyopathy type 3
: code 79091
Hereditary inclusion bodymyopathy type 4
: code 324381
Hereditary inclusion bodymyopathy with early respiratory failure
: code 178464
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
: code 79091
Hereditary infantile gigantism
: code 300373
Hereditary isolated aplastic anemia
: code 397692
Hereditary juvenile megaloblastic anemia due to intrinsic factordeficiency
: code 332
Hereditary keratitis
: code 2334
Hereditary keratoacanthoma
: code 493
Hereditary late-onset Parkinsondisease
: code 411602
Hereditary leiomyomatosis
: code 523
Hereditary leiomyomatosis andrenal cell cancer
: code 523
Hereditary leiomyomatosis withrenal carcinoma
: code 523
Hereditary lymphedema type I
: code 79452
Hereditary lymphedema type II
: code 90186
Hereditary macular atrophy
: code 228277
Hereditary methemoglobinemia
: code 621
Hereditary mixed polyposissyndrome
: code 157794
Hereditary motor and sensoryneuropathy type 3
: code 64748
Hereditary motor and sensoryneuropathy type 4
: code 773
Hereditary motor and sensoryneuropathy type 5
: code 64751
Hereditary motor and sensoryneuropathy type 6
: code 90120
Hereditary motor and sensoryneuropathy type III
: code 64748
Hereditary motor and sensoryneuropathy with acrodystrophy
: code 90119
Hereditary motor and sensory neuropathy with deafness intellectual disability and absentsensory large myelinated fibers
: code 90103
Hereditary motor and sensoryneuropathy Lom type
: code 99950
Hereditary motor and sensoryneuropathy Okinawa type
: code 90117
Hereditary motor and sensoryneuropathy proximal type
: code 90117
Hereditary motor and sensoryneuropathy Russe Type
: code 99953
Hereditary mucoepithelial dysplasia
: code 1839
Hereditary mucosal leukokeratosis
: code 171723
Hereditary multi-infarct dementia
: code 136
Hereditary multicentric osteolysis
: code 3460
Hereditary multiple cutaneousleiomyomas
: code 523
Hereditary multiple glomangiomas
: code 83454
Hereditary myoclonus-progressivedistal muscular atrophy syndrome
: code 2590
Hereditary myopathy with lacticacidosis due to ISCU deficiency
: code 43115
Hereditary neurocutaneousmalformation
: code 1062
Hereditary neuroendocrine tumorof small bowel
: code 456333
Hereditary neuroendocrine tumorof small intestine
: code 456333
Hereditary neurogenic diabetesinsipidus
: code 30925
Hereditary neuropathy with liabilityto pressure palsies
: code 640
Hereditary neutrophilia
: code 279943
Hereditary non histamine-inducedangioedema
: code 91378
Hereditary North American Indianchildhood cirrhosis
: code 168583
Hereditary ochronosis
: code 56
Hereditary orotic aciduria
: code 30
Hereditary ovalocytosis
: code 98868
Hereditary painful callosities
: code 79141
Hereditary palmoplantar hyperkeratosis Gamborg-Nielsentype
: code 86923
Hereditary palmoplantarkeratoderma Gamborg-Nielsen type
: code 86923
Hereditary papillary renal cellcarcinoma
: code 47044
Hereditary parathyroidshyperplasia
: code 99878
Hereditary pediatric Behet-likedisease
: code 476102
Hereditary persistence of alpha-fetoprotein
: code 168615
Hereditary persistence of fetal hemoglobin-beta-thalassemiasyndrome
: code 46532
Hereditary persistence of fetal hemoglobin-sickle cell diseasesyndrome
: code 251380
Hereditary pheochromocytoma-paraganglioma
: code 29072
Hereditary pituitary hyperplasia
: code 300373
Hereditary polymorphous lighteruption of American Indians
: code 330061
Hereditary prepubertal
: code 178345
Hereditary progressivearthroophthalmopathy
: code 828
Hereditary progressive dystoniawith marked diurnal fluctuation
: code 98808
Hereditary progressive mucinoushistiocytosis
: code 158025
Hereditary proximal myopathy withearly respiratory failure
: code 178464
Hereditary pulmonary alveolarproteinosis
: code 264675
Hereditary pulmonary alveolar proteinosis with hepaticinvolvement
: code 440427
Hereditary pulmonary arterialhypertension
: code 275777
Hereditary pyropoikilocytosis
: code 288
Hereditary renal amyloidosis
: code 85450
Hereditary renal amyloidosis due toapolipoprotein A-I variant
: code 93560
Hereditary renal amyloidosis due toapolipoprotein A-II variant
: code 238269
Hereditary renal amyloidosis due tofibrinogen A alpha-chain variant
: code 93562
Hereditary renal amyloidosis due tolysozyme variant
: code 93561
Hereditary renal hypouricemia
: code 94088
Hereditary resistance to anti-vitamin K
: code 788
Hereditary retinoblastoma
: code 357027
Hereditary sclerosing poikiloderma Weary type
: code 221039
Hereditary sensorimotorneuropathy with hyperelastic skin
: code 280598
Hereditary sensory and autonomicneuropathy type 1
: code 36386
Hereditary sensory and autonomic neuropathy type 1 with cough andgastroesophageal reflux
: code 139564
Hereditary sensory and autonomicneuropathy type 1B
: code 139564
Hereditary sensory and autonomicneuropathy type 2
: code 970
Hereditary sensory and autonomicneuropathy type 3
: code 1764
Hereditary sensory and autonomicneuropathy type 4
: code 642
Hereditary sensory and autonomicneuropathy type 5
: code 64752
Hereditary sensory and autonomicneuropathy type 6
: code 314381
Hereditary sensory and autonomicneuropathy type 7
: code 391397
Hereditary sensory and autonomicneuropathy type 8
: code 478664
Hereditary sensory and autonomic
: code 36386
Hereditary sensory and autonomicneuropathy type IB
: code 139564
Hereditary sensory and autonomicneuropathy type II
: code 970
Hereditary sensory and autonomicneuropathy type III
: code 1764
Hereditary sensory and autonomicneuropathy type IV
: code 642
Hereditary sensory and autonomicneuropathy type V
: code 64752
Hereditary sensory and autonomicneuropathy type VI
: code 314381
Hereditary sensory and autonomicneuropathy type VII
: code 391397
Hereditary sensory and autonomicneuropathy type VIII
: code 478664
Hereditary sensory and autonomic neuropathy with deafness andglobal delay
: code 139573
Hereditary sensory and autonomic neuropathy with hyperhidrosis andgastrointestinal dysfunction
: code 391397
Hereditary sensory and autonomicneuropathy with spastic paraplegia
: code 139578
Hereditary sensory neuropathy-deafness-dementia syndrome
: code 456318
Hereditary sensory neuropathy- sensorineural hearing loss-dementiasyndrome
: code 456318
Hereditary site-specific ovariancancer syndrome
: code 213524
Hereditary spastic paraparesis type15
: code 100996
Hereditary spherocytosis
: code 822
Hereditary thermosensitiveneuropathy
: code 84093
Hereditary thrombocythemia
: code 71493
Hereditary thrombocytopenia withearly-onset myelofibrosis
: code 480851
Hereditary thrombocytopenia withnormal platelets
: code 268322
Hereditary thrombocytopenia with normal platelets-hematologicalcancer predisposition syndrome
: code 71290
Hereditary thrombocytosis withtransverse limb defect
: code 329319
Hereditary thrombophilia due to congenital antithrombin 3deficiency
: code 82
Hereditary thrombophilia due tocongenital antithrombin deficiency
: code 82
Hereditary thrombophilia due to congenital histidine-rich (poly-L)glycoprotein deficiency
: code 217467
Hereditary thrombophilia due to
: code 217467
Hereditary unconjugatedhyperbilirubinemia
: code 205
Hereditary unconjugatedhyperbilirubinemia type 1
: code 79234
Hereditary unconjugatedhyperbilirubinemia type 2
: code 79235
Hereditary vascular retinopathy
: code 247691
Hereditary vascular retinopathy- Raynaud phenomenon-migrainesyndrome
: code 247691
Hereditary vitamin D-resistantrickets
: code 93160
Hereditary von Willebrand disease
: code 903
Hereditary whispering dysphonia
: code 98805
Hereditary woolly hair syndrome
: code 170
Hereditary wooly hair syndrome
: code 170
Hereditary xanthinuria
: code 3467
Hereditary xerocytosis
: code 3202
Heredopathia atacticapolyneuritiformis
: code 773
Heritable pulmonary arterialhypertension
: code 275777
Herlyn-Werner syndrome
: code 3411
Hermansky-Pudlak syndrome
: code 79430
Hermansky-Pudlak syndrome type2
: code 183678
Hermansky-Pudlak syndrome type7
: code 231531
Hermansky-Pudlak syndrome type8
: code 231537
Hermansky-Pudlak syndrome type9
: code 280663
Hermansky-Pudlak syndrome withneutropenia
: code 183678
Hermansky-Pudlak syndrome withpulmonary fibrosis
: code 231500
Hermansky-Pudlak syndromewithout pulmonary fibrosis
: code 231512
Hernndez-Aguirre Negretesyndrome
: code 2139
Hernndez-Fragoso syndrome
: code 2786
HERNS syndrome
: code 247691
Herpes simplex meningo-encephalitis
: code 1930
Herpes simplex neuroinvasion
: code 1930
Herpes simplex virus encephalitis
: code 1930
Herpetic encephalitis
: code 1930
Herpetiform pemphigus
: code 208524
Hers disease
: code 369
Herva disease
: code 1486
HES-L
: code 314970
HES-M
: code 314950
HES-N
: code 314950
HES-R
: code 314962
Heterozygous microdeletion17p11.2p12
: code 640
Heterozygous OSMED
: code 3450
Heterozygous otospondylomegaepiphysealdysplasia
: code 3450
Hexosaminidase A deficiency
: code 845
Hexosaminidase A deficiency adultform
: code 309192
Hexosaminidase A deficiency B1variant
: code 309239
Hexosaminidase A deficiency infantile form
: code 309178
Hexosaminidase A deficiency juvenile form
: code 309185
Hexosaminidase activatordeficiency
: code 309246
Hexosaminidases A and Bdeficiency
: code 796
Hexosaminidases A and Bdeficiency adult form
: code 309169
Hexosaminidases A and Bdeficiency infantile form
: code 309155
Hexosaminidases A and Bdeficiency juvenile form
: code 309162
HF
: code 1041
HFGS
: code 2438
HGPPS
: code 2744
HGPS
: code 740
HGSNAT deficiency
: code 79271
HHCS
: code 163
HHE syndrome
: code 86908
HHH syndrome
: code 415
HHML
: code 276280
HHRH
: code 157215
HHT
: code 774
HI
: code 457
HI syndrome
: code 435
HI/HA syndrome
: code 35878
HIBCH deficiency
: code 88639
HIBM2
: code 602
HIBM3
: code 79091
HIBM4
: code 324381
HIBM-ERF
: code 178464
Hidrotic ectodermal dysplasia
: code 189
Hidrotic ectodermal dysplasia Christianson-Fourie type
: code 1808
Hidrotic ectodermal dysplasia Halaltype
: code 1809
HIDS
: code 343
HIE
: code 137577
High altitude pulmonary edema
: code 330012
High anorectal malformation
: code 171201
High bone mass OI
: code 314029
High bone mass osteogenesis
: code 314029
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6rearrangement
: code 480541
High myopia-sensorineuraldeafness syndrome
: code 363396
High scapula
: code 3181
High-grade dysplasia in patientswith Barrett esophagus
: code 231080
High-grade ependymoma
: code 251646
High-grade neuroendocrinecarcinoma of the cervix uteri
: code 213777
High-grade neuroendocrinecarcinoma of the corpus uteri
: code 213731
High-grade neuroendocrinecarcinoma of the uterine cervix
: code 213777
High-grade neuroendocrinecarcinoma of the uterine corpus
: code 213731
HIGM1
: code 101088
HIGM2
: code 101089
HIGM3
: code 101090
HIGM4
: code 101091
HIGM5
: code 101092
HIGM with susceptibility toopportunistic infections
: code 183663
HIGM without susceptibility toopportunistic infections
: code 183666
Hilar CCA
: code 99978
Hilar cholangiocarcinoma
: code 99978
Hinman syndrome
: code 84085
Hinman-Allen syndrome
: code 84085
Hinson-Pepys disease
: code 1164
Hip dysplasia Beukes type
: code 2114
Hip dysplasia-enchondromata-ecchondroma syndrome
: code 3408
Hirata disease
: code 411593
Hirayama disease
: code 65684
Hirschsprung disease
: code 388
Hirschsprung disease and intellectual disability due to 2q22microdeletion
: code 261537
Hirschsprung disease and intellectual disability due to a ZEB2point mutation
: code 261552
Hirschsprung disease and intellectual disability due todel(2)(q22)
: code 261537
Hirschsprung disease and intellectual disability due tomonosomy 2q22
: code 261537
Hirschsprung disease-deafness-polydactyly syndrome
: code 2155
Hirschsprung disease-ganglioneuroblastoma syndrome
: code 2151
Hirschsprung disease-intellectual
: code 2152
Hirschsprung disease-nailhypoplasia-dysmorphism syndrome
: code 2153
Hirschsprung disease-type Dbrachydactyly syndrome
: code 2150
Hirsutism-congenital gingivalhyperplasia syndrome
: code 2026
His bundle tachycardia
: code 3283
HIS deficiency
: code 2157
Histidase deficiency
: code 2157
Histidine ammonia-lyase deficiency
: code 2157
Histidinemia
: code 2157
Histidinuria
: code 2157
Histidinuria-renal tubular defectsyndrome
: code 2158
Histiocytic necrotizinglymphadenitis
: code 50918
Histiocytic sarcoma
: code 86896
Histiocytoid cardiomyopathy
: code 137675
Histoplasmosis
: code 390
HIT
: code 3325
Hittner-Hirsch-Kreh syndrome
: code 138
HIV-associated cancer
: code 443291
HIV-related cancer
: code 443291
HJMD
: code 1573
HLA class 2-negative SCID
: code 572
HLA class 2-negative severecombined immunodeficiency
: code 572
HLHS
: code 2248
HLP type 1
: code 444490
HLP type 3
: code 412
HLP type 5
: code 70470
HLRCC
: code 523
HMC syndrome
: code 2213
HMERF
: code 178464
HMG-CoA lyase deficiency
: code 20
HMG-CoA synthase deficiency
: code 35701
HMPS
: code 157794
HMSN 3
: code 64748
HMSN 4
: code 773
HMSN 5
: code 64751
HMSN2 with giant axons
: code 401964
HMSN III
: code 64748
HMSN with acrodystrophy
: code 90119
HMSN Lom type
: code 99950
HMSN-Lom
: code 99950
HMSNP
: code 90117
HMSNR
: code 99953
HNED
: code 69084
HNF1B-MODY
: code 93111
HNF1B-related renal cysts anddiabetes syndrome
: code 93111
HNPP
: code 640
HNSCC
: code 67037
Hoepffner-Dreyer-Reimerssyndrome
: code 1979
Hoffman syndrome
: code 2349
HoFH
: code 391665
HOGA
: code 414
Holmes-Adie syndrome
: code 454718
Holmes-Benacerraf syndrome
: code 994
Holmes-Collins syndrome
: code 3328
Holmes-Gang syndrome
: code 93970
Holmes-Schepens syndrome
: code 2143
Holocarboxylase synthetasedeficiency
: code 79242
Holoprosencphalie minor form
: code 280200
Holoprosencephaly
: code 2162
Holoprosencephaly-caudaldysgenesis syndrome
: code 2165
Holoprosencephaly-craniosynostosis syndrome
: code 2163
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
: code 2117
Holoprosencephaly-fetal akinesia/hypokinesia sequencesyndrome
: code 2570
Holoprosencephaly-hypokinesia-congenital contractures syndrome
: code 2570
Holoprosencephaly-like
: code 280200
Holoprosencephaly-postaxialpolydactyly syndrome
: code 2166
Holoprosencephaly-radial heartrenal anomalies syndrome
: code 3186
Holt-Oram syndrome
: code 392
Holzgreve syndrome
: code 2167
Holzgreve-Wagner-Rehdersyndrome
: code 2167
HOMG1
: code 30924
HOMG2
: code 34528
HOMG3
: code 31043
Homocarnosinase deficiency
: code 2168
Homocarnosinosis
: code 2168
Homocystinuria due to cystathionine beta-synthasedeficiency
: code 394
Homocystinuria due to methylene tetrahydrofolate reductasedeficiency
: code 395
Homocystinuria withoutmethylmalonic aciduria
: code 622
Homogentisic acid oxidasedeficiency
: code 56
Homozygous alpha0-thalassemia
: code 163596
Homozygous familialhypercholesterolemia
: code 391665
Homozygous familialhypobetalipoproteinemia
: code 14
Homozygous hereditary
: code 288
Honey-droplet corneal dystrophy
: code 98958
Honeycomb corneal dystrophy
: code 98960
Hookworm infection
: code 78
HOPP syndrome
: code 307936
Horizontal gaze palsy withprogressive scoliosis
: code 2744
Horton disease
: code 397
HOS
: code 392
Hot water reflex epilepsy
: code 166412
Houlston-Ironton-Temple syndrome
: code 1352
House allergic alveolitis
: code 99907
Howell-Evans syndrome
: code 2198
Hoyeraal-Hreidarsson syndrome
: code 3322
HP-HA syndrome
: code 306669
HPAH
: code 275777
HPD with marked diurnalfluctuation
: code 98808
HPE
: code 2162
HPE minor form
: code 280200
HPE-L
: code 280200
HPFH-beta-thalassemia syndrome
: code 46532
HPFH-sickle cell disease syndrome
: code 251380
HPP
: code 436
HPPD
: code 293958
HPRCC
: code 47044
HPRT1 partial deficiency
: code 79233
HPRT complete deficiency
: code 510
HPRT deficiency grade IV
: code 510
HPRT deficiency grade I
: code 79233
HPRT partial deficiency
: code 79233
HPRT-related gout
: code 79233
HPRT-related hyperuricemia
: code 79233
HPS
: code 79430
HPS2
: code 183678
HPS7
: code 231531
HPS8
: code 231537
HPS9
: code 280663
HPS with pulmonary fibrosis
: code 231500
HPS without pulmonary fibrosis
: code 231512
HPT-JT
: code 99880
HRD syndrome
: code 2323
HS
: code 84085
HSAN1
: code 36386
HSAN1B
: code 139564
HSAN1E
: code 456318
HSAN2
: code 970
HSAN3
: code 1764
HSAN4
: code 642
HSAN5
: code 64752
HSAN6
: code 314381
HSAN7
: code 391397
HSAN8
: code 478664
HSAN with cough and
: code 139564
HSAN with deafness and globaldelay
: code 139573
HSAN with hyperhidrosis andgastrointestinal dysfunction
: code 391397
HSAN with spastic paraplegia
: code 139578
HSAS
: code 2182
HSCR
: code 388
HSD10 deficiency
: code 391417
HSD10 deficiency atypical type
: code 85295
HSD10 deficiency classic type
: code 391428
HSD10 deficiency infantile type
: code 391428
HSD10 deficiency neonatal type
: code 391457
HSD10 disease
: code 391417
HSD10 disease atypical type
: code 85295
HSD10 disease classic type
: code 391428
HSD10 disease infantile type
: code 391428
HSD10 disease neonatal type
: code 391457
HSE
: code 1930
HSH
: code 30924
HSN1E
: code 456318
HSV encephalitis
: code 1930
HSVE
: code 1930
HT-EDS
: code 285
HTLV-1-associated myelopathy/tropical spasticparaparesis
: code 289326
HTRA1-related autosomaldominant cerebral angiopathy
: code 482077
HTRA1-related autosomal dominant cerebral small vesseldisease
: code 482077
Hughes-Stovin syndrome
: code 228116
Human infection by orthopoxvirus
: code 438279
Human T-lymphotropic virus type I- associated myelopathy/tropicalspastic paraparesis
: code 289326
Human T-lymphotropic virus type- 1-associated myelopathy/tropicalspastic paraparesis
: code 289326
Humeral agenesis/hypoplasia
: code 294973
Humeral intercalary meromelia
: code 294973
Humero-radial fusion
: code 3265
Humero-radial fusion bilateral
: code 295211
Humero-radial fusion unilateral
: code 295209
Humero-radial synostosis
: code 3265
Humero-radial synostosis bilateral
: code 295211
Humero-radial synostosis unilateral
: code 295209
Humero-radio-ulnar fusion
: code 3266
Humero-radio-ulnar fusion bilateral
: code 295207
Humero-radio-ulnar fusion unilateral
: code 295205
Humero-radio-ulnar intercalary
: code 294975
Humero-radio-ulnar synostosis
: code 3266
Humero-radio-ulnar synostosis bilateral
: code 295207
Humero-radio-ulnar synostosis unilateral
: code 295205
Humero-spinal dysostosis
: code 263463
Humero-ulnar fusion
: code 94056
Humero-ulnar fusion bilateral
: code 295215
Humero-ulnar fusion unilateral
: code 295213
Humero-ulnar synostosis
: code 94056
Humero-ulnar synostosis bilateral
: code 295215
Humero-ulnar synostosis unilateral
: code 295213
Humerospinal dysostosis
: code 263463
Humerus trochlea aplasia
: code 3383
Hunter syndrome
: code 580
Hunter syndrome type A
: code 217085
Hunter syndrome type B
: code 217093
Hunter-Carpenter-McDonaldsyndrome
: code 35069
Hunter-Jurenka-Thompsonsyndrome
: code 2715
Hunter-McAlpine craniosynostosis
: code 97340
Hunter-Rudd-Hoffmann syndrome
: code 3365
Hunter-Thompson-Reed syndrome
: code 1390
Huntington chorea
: code 399
Huntington disease
: code 399
Huntington disease phenocopy dueto C9ORF72 expansions
: code 401901
Huntington disease-like 1
: code 157941
Huntington disease-like 2
: code 98934
Huntington disease-like 3
: code 157946
Huntington disease-like 4
: code 98759
Huntington disease-like syndromedue to C9ORF72 expansions
: code 401901
HUPRA syndrome
: code 363694
Huriez syndrome
: code 384
Hurler disease
: code 93473
Hurler syndrome
: code 93473
Hurler-Scheie syndrome
: code 93476
Hutchinson summer prurigo
: code 330061
Hutchinson-Gilford progeriasyndrome
: code 740
HVDRR
: code 93160
HVLL
: code 364039
HVR
: code 247691
Hyaline body myopathy
: code 53698
Hyaline fibromatosis syndrome
: code 498474
Hyaline membrane disease
: code 70587
Hyalinosis cutis et mucosae
: code 530
Hyaluronidase 2 deficiency
: code 508476
Hyaluronidase deficiency
: code 67041
Hydatid disease
: code 400
Hydatidiform mole
: code 99927
Hydatidosis
: code 400
Hyde Forster-McCarthy-Berrysyndrome
: code 2898
Hydranencephaly
: code 2177
Hydrargyria
: code 330021
Hydroa aestivale
: code 330061
Hydroa vacciniforme
: code 330058
Hydroa vacciniforme-likelymphoma
: code 364039
Hydroa-like cutaneous T-celllymphoma
: code 364039
Hydrocephalus with stenosis of theaqueduct of Sylvius
: code 2182
Hydrocephalus-agyria-retinaldysplasia syndrome
: code 899
Hydrocephalus-blue sclerae-nephropathy syndrome
: code 2186
Hydrocephalus-cleft palate-jointcontractures syndrome
: code 916
Hydrocephalus-costovertebral dysplasia-Sprengel anomalysyndrome
: code 2180
Hydrocephalus-endocardialfibroelastosis-cataract syndrome
: code 2119
Hydrocephalus-obesity-hypogonadism syndrome
: code 2183
Hydrocephaly-cerebellar agenesissyndrome
: code 1397
Hydrocephaly-low insertionumbilicus syndrome
: code 2184
Hydrocephaly-tall stature-jointlaxity syndrome
: code 2181
Hydrocephaly/hydranencephalydue to cerebral vasculopathy
: code 221126
Hydrolethalus
: code 2189
Hydrometrocolpos-postaxialpolydactyly syndrome
: code 2473
Hydronephrosis-inverted smilesyndrome
: code 2704
Hydrops fetalis
: code 1041
Hydrops-ectopic calcification-motheaten syndrome
: code 1426
Hydroxymethylglutaric aciduria
: code 20
Hymenolepiasis
: code 401
Hyper-beta-alaninemia
: code 309147
Hyper-IgD syndrome
: code 343
Hyper-IgM syndrome due to CD40deficiency
: code 101090
Hyper-IgM syndrome due to CD40ligand deficiency
: code 101088
Hyper-IgM syndrome due to CD40Ldeficiency
: code 101088
Hyper-IgM syndrome due to UNGdeficiency
: code 101092
Hyper-IgM syndrome due to uracilN-glycosylase
: code 101092
Hyper-IgM syndrome type 1
: code 101088
Hyper-IgM syndrome type 2
: code 101089
Hyper-IgM syndrome type 3
: code 101090
Hyper-IgM syndrome type 4
: code 101091
Hyper-IgM syndrome type 5
: code 101092
Hyper-IgM syndrome with susceptibility to opportunisticinfections
: code 183663
Hyper-IgM syndrome without susceptibility to opportunisticinfections
: code 183666
Hyperalaninemia
: code 309147
Hyperammonemia due to N-acetylglutamate synthase deficiency
: code 927
Hyperammonemic encephalopathy due to carbonic anhydrase VAdeficiency
: code 401948
Hyperandrogenism due to cortisonereductase deficiency
: code 168588
Hyperargininemia
: code 90
Hyperbilirubinemia type 2
: code 234
Hyperbilirubinemia Rotor type
: code 3111
Hyperbiliverdinemia
: code 276405
Hypercalcemic tumoral calcinosis
: code 306661
Hypercalciuria-bilateral macularcoloboma syndrome
: code 2196
Hypercholesterolemia due to cholesterol 7alpha-hydroxylasedeficiency
: code 209902
Hypercoagulability syndrome due to glycosylphosphatidylinositoldeficiency
: code 83639
Hyperdibasic aminoaciduria type 1
: code 1032
Hyperdibasic aminoaciduria type 2
: code 470
Hyperekplexia
: code 3197
Hyperekplexia-epilepsy syndrome
: code 163985
Hyperglycerolemia
: code 408
Hypergonadotropic hypogonadism-cataract syndrome
: code 2410
Hypergonadotropic ovariandysgenesis
: code 243
Hyperhistidinemia
: code 2157
Hyperimidodipeptiduria
: code 742
Hyperimmunoglobinemia D withrecurrent fever
: code 343
Hyperimmunoglobulin E syndrometype 1
: code 2314
Hyperimmunoglobulin E-recurrentinfection syndrome
: code 2314
Hyperimmunoglobulinemia Dsyndrome
: code 343
Hyperimmunoglobulinemia D withperiodic fever
: code 343
Hyperinsulinemic hypoglycemiadue to glucokinase deficiency
: code 79299
Hyperinsulinemic hypoglycemiadue to HNF1A deficiency
: code 324575
Hyperinsulinemic hypoglycemiadue to HNF4A deficiency
: code 263455
Hyperinsulinemic hypoglycemiadue to INSR deficiency
: code 263458
Hyperinsulinemic hypoglycemiadue to insulin receptor deficiency
: code 263458
Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency diazoxide-resistant focal form
: code 276603
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
: code 71212
Hyperinsulinemic hypoglycemia due to SUR1 deficiency diazoxide-resistant focal form
: code 276598
Hyperinsulinemic hypoglycemiadue to UCP2 deficiency
: code 276556
Hyperinsulinism due to glucokinasedeficiency
: code 79299
Hyperinsulinism due toglutamodehydrogenase deficiency
: code 71212
Hyperinsulinism due to HNF1Adeficiency
: code 324575
Hyperinsulinism due to HNF4Adeficiency
: code 263455
Hyperinsulinism due to INSRdeficiency
: code 263458
Hyperinsulinism due to monocarboxylate transporter 1deficiency
: code 165991
Hyperinsulinism due to SCHADdeficiency
: code 71212
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenasedeficiency
: code 71212
Hyperinsulinism due to SLC16A1deficiency
: code 165991
Hyperinsulinism due to UCP2deficiency
: code 276556
Hyperinsulinism-hyperammonemiasyndrome
: code 35878
Hyperkalemia-hypertensionsyndrome Gordon type
: code 757
Hyperkalemic periodic paralysis
: code 682
Hyperkalemic PP
: code 682
Hyperkeratosis lenticularis perstans
: code 409
Hyperkeratosis-contracturesyndrome
: code 1662
Hyperkeratosis-hyperpigmentationsyndrome
: code 1336
HyperKPP
: code 682
Hyperlipidemia due to hepaticlipase deficiency
: code 140905
Hyperlipidemia due to hepatic
: code 140905
Hyperlipidemia due to hepatictriglyceride lipase deficiency
: code 140905
Hyperlipidemia due to HL deficiency
: code 140905
Hyperlipidemia due to HTGLdeficiency
: code 140905
Hyperlipidemia type 3
: code 412
Hyperlipoproteinemia type 1
: code 444490
Hyperlipoproteinemia type 3
: code 412
Hyperlipoproteinemia type 5
: code 70470
Hyperlysinemia
: code 2203
Hyperlysinemia type I
: code 2203
Hyperlysinemia type II
: code 3124
Hypermethioninemia due to glycineN-methyltransferase deficiency
: code 289891
Hypermethioninemia due to GNMTdeficiency
: code 289891
Hypermethioninemia due to S- adenosylhomocysteine hydrolasedeficiency
: code 88618
Hypermethioninemia encephalopathy due to adenosinekinase deficiency
: code 289290
Hypermethioninemia encephalopathy due to ADKdeficiency
: code 289290
Hypernychthemeral syndrome
: code 73267
Hyperornithinemia
: code 414
Hyperornithinemia-gyrate atrophyof choroid and retina syndrome
: code 414
Hyperornithinemia- hyperammonemia-homocitrullinuriasyndrome
: code 415
Hyperostosis corticalis deformansjuvenilis
: code 2801
Hyperostosis corticalis generalisata
: code 3416
Hyperostosis cranialis interna
: code 443098
Hyperostosis frontalis interna
: code 77296
Hyperostosis generalisata withstriations
: code 2780
Hyperparathyroidism-jaw tumorsyndrome
: code 99880
Hyperphalangy
: code 295002
Hyperphalangy in digits 2-5
: code 295140
Hyperphalangy bilateral
: code 295142
Hyperphalangy unilateral
: code 295140
Hyperphalangy-clinodactyly of index finger with Pierre Robinsyndrome
: code 1388
Hyperphenylalaninemia due to 6- pyruvoyltetrahydropterin synthasedeficiency
: code 13
Hyperphenylalaninemia due to BH4deficiency
: code 238583
Hyperphenylalaninemia due to
: code 1578
Hyperphenylalaninemia due to dihydropteridine reductasedeficiency
: code 226
Hyperphenylalaninemia due toDNAJC12 deficiency
: code 508523
Hyperphenylalaninemia due to GTPcyclohydrolase deficiency
: code 2102
Hyperphenylalaninemia due to pterin-4-alpha-carbinolaminedehydratase deficiency
: code 1578
Hyperphenylalaninemia due totetrahydrobiopterin deficiency
: code 238583
Hyperphenylalaninemia withprimapterinuria
: code 1578
Hyperphenylalaninemicembryopathy
: code 2209
Hyperphosphatasemia tarda
: code 3416
Hyperphosphatasia-intellectualdisability syndrome
: code 247262
Hyperpipecolatemia
: code 79189
Hyperplastic polyposis syndrome
: code 157798
HyperPP
: code 682
Hyperprolinemia type 1
: code 419
Hyperprolinemia type 2
: code 79101
Hyperprostaglandin E syndrome
: code 93604
Hypersensitivity angiitis
: code 889
Hypertelorism Teebi type
: code 1519
Hypertelorism-hypospadias-polysyndactyly syndrome
: code 2211
Hypertelorism-microtia-facialclefting syndrome
: code 2213
Hypertelorism-oesophagealabnormality-hypospadias syndrome
: code 2745
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
: code 293958
Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
: code 293958
Hypertension due to gain-of- function mutations in themineralocorticoid receptor
: code 88660
Hypertensive hyperkalemia
: code 757
Hyperthermia of anesthesia
: code 423
Hypertrichosis cubiti
: code 2220
Hypertrichosis lanuginosacongenita
: code 2222
Hypertrichosis universalis
: code 2222
Hypertrichosis with or withoutgingival hyperplasia
: code 2026
Hypertrichosis-acromegaloid facialappearance syndrome
: code 966
Hypertrichosis-acromegaloid facialfeatures syndrome
: code 966
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
: code 1231
Hypertrichosis-coarse facesyndrome
: code 966
Hypertrichosis-short stature-facial dysmorphism-developmental delaysyndrome
: code 319182
Hypertrichoticosteochondrodysplasia Cantu type
: code 1517
Hypertrophic cardiomyopathy and renal tubular disease due tomitochondrial DNA mutation
: code 324525
Hypertrophic cardiomyopathy and renal tubular disease due to mtDNAmutation
: code 324525
Hypertrophic cardiomyopathy dueto intensive athletic training
: code 217601
Hypertrophic gastropathy withouthypoproteinemia
: code 329883
Hypertrophic or verrucous lupuserythematosus
: code 90282
Hypertryptophanemia
: code 2224
Hyperuricemia-pulmonary hypertension-renal failure-alkalosissyndrome
: code 363694
Hyperzincemia andhypercalprotectinemia
: code 251523
Hypnic headache
: code 276429
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disabilitysyndrome
: code 2435
Hypocalcemic vitamin D-dependentrickets
: code 289157
Hypocalcemic vitamin D-resistantrickets
: code 93160
Hypocalcified amelogenesisimperfecta
: code 100032
Hypochondrogenesis
: code 93297
Hypochondroplasia
: code 429
Hypocomplementemic urticarialvasculitis
: code 36412
Hypodontia-dysplasia of nailssyndrome
: code 2228
Hypodontia-nail dysgenesissyndrome
: code 2228
Hypogenetic lung syndrome
: code 185
Hypoglossia-hypodactyly syndrome
: code 989
Hypogonadism-gynecomastia-X- linked intellectual disabilitysyndrome
: code 261483
Hypogonadism-mitral valve prolapse-intellectual disabilitysyndrome
: code 2233
Hypogonadism-short stature- coloboma-preaxial polydactylysyndrome
: code 141333
Hypogonadotropic hypogonadism-
: code 2230
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
: code 2235
Hypogonadotropic hypogonadism- severe microcephaly-sensorineuraldeafness-dysmorphism syndrome
: code 293967
Hypogonadotropic hypogonadism- severe microcephaly-sensorineural hearing loss-dysmorphismsyndrome
: code 293967
Hypohidrosis-enamel hypoplasia- palmoplantar keratoderma-intellectual disability syndrome
: code 363523
Hypohidrotic ectodermal dysplasia
: code 238468
Hypohidrotic ectodermal dysplasiawith immunodeficiency
: code 98813
Hypohidrotic ectodermal dysplasia- hypothyroidism-ciliary dyskinesiasyndrome
: code 1882
Hypoinsulinemic hypoglycemia andbody hemihypertrophy
: code 293964
Hypokalemic periodic paralysis
: code 681
Hypomagnesemia caused byselective magnesium malabsorption
: code 30924
Hypomagnesemia intestinal type 1
: code 30924
Hypomandibular faciocranialdysostosis
: code 1790
Hypomaturation amelogenesisimperfecta
: code 100033
Hypomaturation-hypoplastic amelogenesis imperfecta withtaurodontism
: code 100034
Hypomelanosis of Ito
: code 435
Hypomyelinating leukodystrophydue to hikeshi deficiency
: code 495844
Hypomyelinating leukodystrophy- ataxia-hypodontia-hypomyelinationsyndrome
: code 137639
Hypomyelination neuropathy-arthrogryposis syndrome
: code 2680
Hypomyelination with atrophy ofbasal ganglia and cerebellum
: code 139441
Hypomyelination with brain stem and spinal cord involvement and legspasticity
: code 363412
Hypomyelination-cerebellar atrophy-hypoplasia of the corpuscallosum syndrome
: code 447893
Hypomyelination-congenitalcataract syndrome
: code 85163
Hypomyelination- hypogonadotropic hypogonadism-hypodontia syndrome
: code 88637
Hypoparathyroidism-Addison disease-mucocutaneous candidiasissyndrome
: code 3453
Hypoparathyroidism-deafness-renaldisease syndrome
: code 2237
Hypoparathyroidism-intellectualdisability-dysmorphism syndrome
: code 2323
Hypoparathyroidism-short stature- intellectual disability-seizuressyndrome
: code 2323
Hypophosphatasia
: code 436
Hypophyseal duplication
: code 314621
Hypophyseal gigantism
: code 99725
Hypopigmentation and punctatekeratosis of the palms and soles
: code 324561
Hypopigmentation-deafnesssyndrome
: code 42665
Hypopigmentation- immunodeficiency with or withoutneurologic impairment syndrome
: code 79477
Hypopigmentation-neurologicimpairment syndrome
: code 79476
Hypopigmentation-punctate palmoplantar keratodermasyndrome
: code 324561
Hypopituitarism due to empty sellaturcica syndrome
: code 91354
Hypopituitarism-micropenis-cleftlip/palate syndrome
: code 3157
Hypopituitarism-microphthalmiasyndrome
: code 3157
Hypoplasia of the mitral valveannulus
: code 99058
Hypoplasminogenemia
: code 722
Hypoplastic amelogenesisimperfecta
: code 100031
Hypoplastic left heart syndrome
: code 2248
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladdersyndrome
: code 293864
Hypoplastic tibiae-postaxialpolydactyly syndrome
: code 3332
Hypoprebetalipoproteinemia- acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome
: code 216866
Hypoproconvertinemia
: code 327
Hypoproteinemic hypertrophicgastropathy
: code 2494
Hypoprothrombinemia
: code 325
Hyposmia-nasal and ocular hypoplasia-hypogonadotropichypogonadism syndrome
: code 2250
Hypospadias-dysphagia syndrome
: code 2745
Hypospadias-hypertelorismsyndrome
: code 2745
Hypospadias-hypertelorism-coloboma and deafness syndrome
: code 1299
Hypospadias-intellectual disability Goldblatt type syndrome
: code 2261
Hypotelorism-cleft palate-hypospadias syndrome
: code 2353
Hypothalamic adipsichypernatraemia syndrome
: code 443101
Hypothalamic hamartoblastomasyndrome
: code 672
Hypothalamic hamartomas withgelastic seizures
: code 86906
Hypothalamic insufficiency- secondary microcephaly-visual impairment-urinary anomaliessyndrome
: code 3157
Hypothyroidism due to deficient transcription factors involved inpituitary development or function
: code 226307
Hypothyroidism due to TSHreceptor mutations
: code 90673
Hypothyroidism-cleft palatesyndrome
: code 1226
Hypothyroidism-dysmorphism- postaxial polydactyly-intellectualdisability syndrome
: code 3047
Hypotonia and ichthyosis due todolichol phosphate deficiency
: code 91131
Hypotonia with lactic acidemia andhyperammonemia
: code 137908
Hypotonia-cystinuria syndrome
: code 163690
Hypotonia-failure to thrive-microcephaly syndrome
: code 79507
Hypotonia-speech impairment-severe cognitive delay syndrome
: code 371364
Hypotrichosis simplex
: code 55654
Hypotrichosis simplex of the scalp
: code 90368
Hypotrichosis with juvenile maculardegeneration
: code 1573
Hypotrichosis with juvenile maculardystrophy
: code 1573
Hypotrichosis Marie Unna type
: code 444
Hypotrichosis-congenital ichthyosissyndrome
: code 91132
Hypotrichosis-deafness syndrome
: code 330029
Hypotrichosis-intellectual disability Lopes type
: code 2266
Hypotrichosis-lymphedema- telangiectasia- membranoproliferativeglomerulonephritis syndrome
: code 69735
Hypotrichosis-lymphedema- telangiectasia-renal defectsyndrome
: code 69735
Hypotrichosis-osteolysis- periodontitis-palmoplantarhyperkeratosis syndrome
: code 307936
Hypotrichosis-osteolysis- periodontitis-palmoplantarkeratoderma syndrome
: code 307936
Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
: code 307936
Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
: code 307936
Hypoxanthine guanine phosphoribosyltransferase 1 partialdeficiency
: code 79233
Hypoxanthine guanine phosphoribosyltransferasecomplete deficiency
: code 510
Hypoxanthine guanine phosphoribosyltransferasedeficiency grade I
: code 79233
Hypoxanthine guanine phosphoribosyltransferasedeficiency grade IV
: code 510
Hypoxanthine guanine phosphoribosyltransferase partialdeficiency
: code 79233
Hypoxic and ischemic brain injury inthe newborn
: code 137577
Hypoxic-ischemic encephalopathy
: code 137577
HYPP
: code 682
Hypsicephaly
: code 63440
Hypsocephaly
: code 63440
I-cell disease
: code 576
IAD
: code 480512
IAEP
: code 724
IAHS
: code 158048
IAHSP
: code 293168
Iatrogenic botulism
: code 254509
Iatrogenic or traumatic pituitarydeficiency
: code 95619
IBA57 deficiency
: code 363424
IBIDS syndrome
: code 33364
IBM
: code 611
IBM2
: code 602
IBM3
: code 79091
IBMPFD
: code 52430
IC/BPS
: code 37202
IC/PBS
: code 37202
ICCA syndrome
: code 31709
ICE syndrome
: code 64734
ICF syndrome
: code 2268
Ichthyosis bullosa of Siemens
: code 455
Ichthyosis congenita Harlequintype
: code 457
Ichthyosis exfoliativa
: code 289586
Ichthyosis fetalis Harlequin type
: code 457
Ichthyosis follicularis-alopecia-photophobia syndrome
: code 2273
Ichthyosis follicularis-atrichia-photophobia syndrome
: code 2273
Ichthyosis hystrix gravior
: code 79504
Ichthyosis hystrix of Curth-Macklin
: code 79503
Ichthyosis hystrix Curth-Macklintype
: code 79503
Ichthyosis variegata
: code 281190
Ichthyosis with confetti
: code 281190
Ichthyosis Lambert type
: code 79504
Ichthyosis-alopecia-eclabion- ectropion-intellectual disabilitysyndrome
: code 2269
Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
: code 91132
Ichthyosis-follicular atrophoderma- hypotrichosis-hypohidrosissyndrome
: code 91132
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
: code 2274
Ichthyosis-hypotrichosis syndrome
: code 91132
Ichthyosis-hypotrichosis-sclerosingcholangitis syndrome
: code 59303
Ichthyosis-intellectual disability- dwarfism-renal impairmentsyndrome
: code 2278
Ichthyosis-male hypogonadismsyndrome
: code 1643
Ichthyosis-oral and digitalanomalies syndrome
: code 2272
Ichthyosis-prematurity syndrome
: code 88621
Ichthyosis-short stature- brachydactyly-microspherophakiasyndrome
: code 363992
IDH
: code 289347
idic(15)
: code 3306
Idiopathic achalasia
: code 930
Idiopathic achalasia of esophagus
: code 930
Idiopathic acute eosinophilicpneumonia
: code 724
Idiopathic acute transverse myelitis
: code 139423
Idiopathic adult ductopenia
: code 480512
Idiopathic and/or familialpulmonary arterial hypertension
: code 422
Idiopathic anterior uveitis
: code 280914
Idiopathic aplastic anemia
: code 88
Idiopathic asymptomatichyperCKemia
: code 206599
Idiopathic avascular necrosis
: code 399307
Idiopathic AVN
: code 399307
Idiopathic basal ganglia calcification
: code 1980
Idiopathic bilateral vestibulopathy
: code 171684
Idiopathic bile acid malabsorption
: code 84065
Idiopathic bone marrow failure
: code 88
Idiopathic bronchiectasis
: code 60033
Idiopathic camptocormia
: code 1320
Idiopathic camptocormism
: code 1320
Idiopathic capillary leak syndrome
: code 188
Idiopathic catastrophic epilepticencephalopathy
: code 163703
Idiopathic CD4 lymphocytopenia
: code 228000
Idiopathic central precociouspuberty
: code 169615
Idiopathic chronic eosinophilicpneumonia
: code 2902
Idiopathic congenitalhypothyroidism
: code 95717
Idiopathic copper-associatedcirrhosis
: code 209919
Idiopathic disseminated CMVinfection
: code 35062
Idiopathic disseminatedcytomegalovirus infection
: code 35062
Idiopathic dropped head syndrome
: code 447881
Idiopathic ductopenia
: code 480512
Idiopathic dystonia
: code 256
Idiopathic eosinophilia-associatedmyopathy
: code 247724
Idiopathic eosinophilic myositis
: code 247724
Idiopathic giant cell myocarditis
: code 329874
Idiopathic granulomatous mastitis
: code 64722
Idiopathic hemiconvulsion-hemiplegia syndrome
: code 86908
Idiopathic hypercalciuria
: code 2197
Idiopathic hypereosinophilicsyndrome
: code 3260
Idiopathic hypersomnia
: code 33208
Idiopathic hypersomnia with longsleep time
: code 228315
Idiopathic hypersomnia withoutlong sleep time
: code 228318
Idiopathic hypertrophicpachymeningitis
: code 449427
Idiopathic immunoglobulindeficiency
: code 1572
Idiopathic infantile arterialcalcification
: code 51608
Idiopathic intracranial hypertension
: code 238624
Idiopathic juvenile osteoporosis
: code 85193
Idiopathic late-onset cerebellarataxia
: code 247234
Idiopathic linear interstitial keratitis
: code 314017
Idiopathic lobular panniculitis
: code 33577
Idiopathic localized lipodystrophy
: code 90158
Idiopathic macular telangiectasiatype 1
: code 353344
Idiopathic macular telangiectasiatype 3
: code 353351
Idiopathic malabsorption due tobile acid synthesis defects
: code 84065
Idiopathic massive osteolysis
: code 73
Idiopathic membranousglomerulonephritis
: code 97560
Idiopathic Moyamoya disease
: code 2573
Idiopathic multicentric osteolysiswith or without nephropathy
: code 2774
Idiopathic myelofibrosis
: code 824
Idiopathic neonatal atrial flutter
: code 45452
Idiopathic nodular panniculitis
: code 33577
Idiopathic obliterative arteriopathy
: code 51608
Idiopathic orthostatic hypotension
: code 441
Idiopathic panuveitis
: code 280921
Idiopathic PAP
: code 747
Idiopathic peliosis hepatis
: code 480524
Idiopathic peliosis hepatitis
: code 480524
Idiopathic phalangeal acro-osteolysis
: code 444316
Idiopathic phalangealacroosteolysis
: code 444316
Idiopathic pleuroparenchymalfibroelastosis
: code 494428
Idiopathic pleuropulmonaryfibroelastosis
: code 494428
Idiopathic posterior uveitis
: code 280917
Idiopathic progressive lumbarkyphosis
: code 1320
Idiopathic pulmonary alveolarproteinosis
: code 747
Idiopathic pulmonary arterialhypertension
: code 275766
Idiopathic pulmonary arterydilatation
: code 1676
Idiopathic pulmonary fibrosis
: code 2032
Idiopathic pulmonaryhemosiderosis
: code 99931
Idiopathic recurrent and disablingcutaneous herpes
: code 35061
Idiopathic recurrent pericarditis
: code 251307
Idiopathic recurrent stupor
: code 276174
Idiopathic relapsing pericarditis
: code 251307
Idiopathic retinal perivasculitis
: code 40923
Idiopathic retinal vasculitis
: code 40923
Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome
: code 209943
Idiopathic retroperitoneal fibrosis
: code 49041
Idiopathic SCAD
: code 458718
Idiopathic severe pneumococcemia
: code 35065
Idiopathic spontaneous coronaryartery dissection
: code 458718
Idiopathic steroid-sensitivenephrotic syndrome
: code 69061
Idiopathic steroid-sensitive nephrotic syndrome with diffusemesangial proliferation
: code 93209
Idiopathic steroid-sensitive nephrotic syndrome with focalsegmental glomerulosclerosis
: code 93206
Idiopathic steroid-sensitive
: code 93206
Idiopathic steroid-sensitive nephrotic syndrome with minimalchange
: code 93207
Idiopathic syringomyelia
: code 99858
Idiopathic torsion dystonia
: code 256
Idiopathic torsion dystonia ofmixed type
: code 98806
Idiopathic tracheobronchomegaly
: code 3347
Idiopathic trachyonychia
: code 79153
Idiopathic uveal effusion syndrome
: code 209956
Idiopathic ventricular fibrillation Brugada type
: code 130
Idiopathic ventricular fibrillation non Brugada type
: code 228140
IDMDC
: code 280384
Iduronate 2-sulfatase deficiency
: code 580
Iduronate 2-sulfatase deficiencytype A
: code 217085
Iduronate 2-sulfatase deficiencytype B
: code 217093
IED
: code 92050
IFAH syndrome
: code 91132
IFAP syndrome
: code 2273
IFD
: code 332
Ig-mediated membranoproliferativeglomerulonephritis
: code 329903
Ig-mediated MPGN
: code 329903
IgA vasculitis
: code 761
IGCM
: code 329874
IGDA
: code 79099
IGF-1 deficiency
: code 73272
IgG4-related aortitis
: code 449400
IgG4-related dacryoadenitis andsialadenitis
: code 79078
IgG4-related eosinophilicangiocentric fibrosis
: code 449566
IgG4-related hepatopathy
: code 90003
IgG4-related kidney disease
: code 449395
IgG4-related mediastinitis
: code 63999
IgG4-related mesenteritis
: code 238593
IgG4-related ophthalmic disease
: code 449563
IgG4-related pachymeningitis
: code 449427
IgG4-related pancreatitis
: code 280302
IgG4-related periaortitis
: code 449400
IgG4-related retroperitonealfibrosis
: code 49041
IgG4-related sclerosing cholangitis
: code 447764
IgG4-related sialadenitis
: code 449432
IgG4-related submandibular glanddisease
: code 449432
IgG4-related thyroid disease
: code 64744
IgG subclass deficiency with IgA
: code 183675
IGSF1 deficiency syndrome
: code 329235
IHF
: code 364013
IHHS
: code 86908
IHPRF syndrome
: code 371364
IHS
: code 91132
IHSC
: code 59303
IIH
: code 238624
IJO
: code 85193
IL10-related early-onset IBD
: code 238569
IL10-related early-onsetinflammatory bowel disease
: code 238569
IL21-related infantile IBD
: code 477661
IL21-related infantile inflammatorybowel disease
: code 477661
Ileal neuroendocrine neoplasm
: code 100078
Ileal neuroendocrine tumor
: code 100078
Ileal pouch anal anastomosisrelated faecal incontinence
: code 238621
Illum syndrome
: code 1150
ILVEN
: code 79466
IMAGe syndrome
: code 85173
IMAM
: code 247718
Iminoglycinuria
: code 42062
Immature interstitial mesenchymaltumor
: code 284362
Immature teratoma of ovary
: code 398987
Immigration delay disease
: code 289465
Immotile cilia syndrome Kartagener type
: code 244
Immune brachial plexusneuropathy
: code 2901
Immune dysfunction due to T-cell inactivation due to calcium entrydefect
: code 169090
Immune dysregulation- inflammatory bowel disease- arthritis-recurrent infectionssyndrome
: code 238569
Immune dysregulation- polyendocrinopathy-enteropathy-X-linked syndrome
: code 37042
Immune fetal edema
: code 364013
Immune fetal hydrops
: code 364013
Immune HF
: code 364013
Immune hydrops fetalis
: code 364013
Immune myopathy with myocytenecrosis
: code 206569
Immune pancytopenia
: code 1959
Immune thrombocytopenia
: code 3002
Immune thrombocytopenic purpura
: code 3002
Immune-mediated necrotizingmyopathy
: code 206569
Immune-mediated rippling muscledisease
: code 206575
Immunoblastic lymphadenopathy
: code 86886
Immunodeficiency by defectiveexpression of HLA class 1
: code 34592
Immunodeficiency by defectiveexpression of HLA class 2
: code 572
Immunodeficiency due to a classical component pathway complementdeficiency
: code 169147
Immunodeficiency due to a late component of complementdeficiency
: code 169150
Immunodeficiency due to an early component of complementdeficiency
: code 169147
Immunodeficiency due to C1 C4 or C2 component complementdeficiency
: code 169147
Immunodeficiency due to C5 to C9component complement deficiency
: code 169150
Immunodeficiency due to CD25deficiency
: code 169100
Immunodeficiency due to ficolin3deficiency
: code 331190
Immunodeficiency due to interleukin-1 receptor-associatedkinase-4 deficiency
: code 70592
Immunodeficiency due to MASP-2deficiency
: code 331187
Immunodeficiency due to selective anti-polysaccharide antibodydeficiency
: code 70593
Immunodeficiency with factor Hanomaly
: code 200421
Immunodeficiency with factor Ianomaly
: code 200418
Immunodeficiency-centromeric instability-facial anomaliessyndrome
: code 2268
Immunodeficiency-microcephaly-chromosomal instability syndrome
: code 647
Immunodeficiency-short limbdwarfism syndrome
: code 935
Immunoglobulin A vasculitis
: code 761
Immunoglobulin heavy chaindeficiency
: code 169110
Immunoglobulin-mediated membranoproliferativeglomerulonephritis
: code 329903
Immunoglobulin-mediated MPGN
: code 329903
Immunoproliferative smallintestinal disease
: code 100025
Immunotactoid glomerulonephritis
: code 97567
Immunotactoid glomerulopathy
: code 97567
IMNEPD
: code 456312
IMNM
: code 206569
Imperforate anus with hand foot
: code 857
Imperforate oropharynx-costovertebral anomalies syndrome
: code 2759
Imploding antrum syndrome
: code 71276
INAD
: code 35069
INAD1
: code 35069
Inadvertent botulism
: code 254509
Incessant infant ventriculartachycardia
: code 45453
INCL
: code 79263
Inclusion body beta-thalassemia
: code 231226
Inclusion body fibromatosis
: code 199267
Inclusion body myopathy type 2
: code 602
Inclusion body myopathy type 3
: code 79091
Inclusion body myopathy with Paget disease of bone andfrontotemporal dementia
: code 52430
Inclusion body myositis
: code 611
Incomplete hydatidiform mole
: code 254693
Incomplete Meigs syndrome
: code 314466
Incomplete molar pregnancy
: code 254693
Incomplete situs inversus
: code 157769
Incomplete unilateral aplasia of theMllerian ducts
: code 180079
Incomplete unilateral Mllerianaplasia
: code 180079
Incontinentia pigmenti
: code 464
Incontinentia pigmenti type 1
: code 435
Indeterminate cell histiocytosis
: code 158019
Indeterminate Dendritic Cell Tumor
: code 158019
Index finger anomaly-Pierre Robinsyndrome
: code 1388
Indolent systemic mastocytosis
: code 98848
Indomethacin embryofetopathy
: code 1909
Infant acute respiratory distresssyndrome
: code 70587
Infant ARDS
: code 70587
Infant botulism
: code 178478
Infant epilepsy with migrant focalcrisis
: code 1943
Infant intestinal botulism
: code 178478
Infant intestinal toxemia botulism
: code 178478
Infant intestinal toxin-mediatedbotulism
: code 178478
Infant respiratory distresssyndrome
: code 70587
Infant-like botulism
: code 178487
Infantile acrodynia
: code 247165
Infantile agranulocytosis
: code 99749
Infantile and juvenile forms ofacromegaly
: code 99725
Infantile apnea
: code 70590
Infantile arteriosclerosis
: code 51608
Infantile axonal neuropathy
: code 2679
Infantile Bartter syndrome with
: code 89938
Infantile botulism
: code 178478
Infantile Canavan disease
: code 314911
Infantile cardiomyopathy withhistiocytoid change
: code 137675
Infantile cellular interstitialpneumonitis
: code 217557
Infantile cerebellar-retinaldegeneration
: code 313850
Infantile cerebral and cerebellar atrophy with postnatal progressivemicrocephaly
: code 402364
Infantile cerebral Gaucher disease
: code 77260
Infantile choroidocerebralcalcification syndrome
: code 1313
Infantile convulsions andchoreoathetosis
: code 31709
Infantile cortical hyperostosis
: code 1310
Infantile digital fibromatosis
: code 199267
Infantile dysmorphic sialidosis
: code 87876
Infantile dystonia-parkinsonism
: code 238455
Infantile epileptic-dyskineticencephalopathy
: code 364063
Infantile gigantism due to pituitaryhyperplasia
: code 300373
Infantile glycine encephalopathy
: code 289860
Infantile GM1 gangliosidosis
: code 79255
Infantile GM2 gangliosidosis 0variant
: code 309155
Infantile hereditary endothelialdystrophy
: code 293603
Infantile hypertrophic cardiomyopathy due to MRPL44deficiency
: code 352563
Infantile hypophosphatasia
: code 247651
Infantile hypotonia-psychomotor retardation-characteristic faciessyndrome
: code 371364
Infantile juvenile polyposissyndrome
: code 79076
Infantile Krabbe disease
: code 206436
Infantile lobar hyperinflation
: code 1928
Infantile malignant osteopetrosis
: code 667
Infantile mercury intoxication
: code 247165
Infantile mercury poisoning
: code 247165
Infantile multisystem neurologic-endocrine-pancreatic disease
: code 456312
Infantile myofibromatosis
: code 2591
Infantile NCL
: code 79263
Infantile nephronophthisis
: code 93591
Infantile neuroaxonal dystrophy
: code 35069
Infantile neuronal ceroidlipofuscinosis
: code 79263
Infantile NKH
: code 289860
Infantile non-ketotic
: code 289860
Infantile onset panniculitis withuveitis and systemic granulomatosis
: code 251304
Infantile onset spinocerebellarataxia
: code 1186
Infantile optic atrophy with choreaand spastic paraplegia
: code 67047
Infantile osteopetrosis withneuroaxonal dysplasia
: code 85179
Infantile phosphoethanolaminuria
: code 247651
Infantile Rathburn disease
: code 247651
Infantile Refsum disease
: code 772
Infantile reversible cytochrome Coxidase deficiency myopathy
: code 254864
Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia diseasesyndrome
: code 263410
Infantile spasms
: code 3451
Infantile spasms-broad thumbssyndrome
: code 3173
Infantile spinal muscular atrophy
: code 83330
Infantile subacute necrotizing encephalopathy withleukodystrophy
: code 255241
Infantile subacute necrotizing encephalopathy with nephroticsyndrome
: code 255249
Infantile systemic hyalinosis
: code 2176
Infantile tibia vara
: code 2768
Infantile xanthomatouscardiomyopathy
: code 137675
Infantile-onset ascendinghereditary spastic paralysis
: code 293168
Infantile-onset autosomal recessivenonprogressive cerebellar ataxia
: code 284332
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
: code 457205
Infantile-onset generalized dyskinesia with orofacialinvolvement
: code 494526
Infantile-onset mesial temporal lobe epilepsy with severe cognitiveregression
: code 391316
Infantile-onset multisysteminflammatory disease
: code 1451
Infantile-onset orofacial-trunk-limbs dyskinesia
: code 494526
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
: code 500062
Infantile-onset spinocerebellarataxia-psychomotor delay syndrome
: code 352403
Infantile-onset symptomatic epilepsy syndrome-developmentalstagnation-blindness syndrome
: code 171714
Infantile-onset X-linked spinalmuscular atrophy
: code 1145
Infection due to Coxiella burnetii
: code 781
Infectious anterior uveitis
: code 279922
Infectious epithelial keratitis
: code 137593
Infectious panuveitis
: code 279925
Infectious posterior uveitis
: code 279919
Infective dermatitis associated withHTLV-1
: code 289347
Infective dermatitis associated withhuman T-lymphotropic virus type 1
: code 289347
Infective dermatitis associated withhuman T-lymphotropic virus type I
: code 289347
Inferior caval vein interruption
: code 99123
Inferior palpebral coloboma
: code 155889
Inferior vena cava interruption
: code 99123
Infiltrative small vesicular DCM
: code 280794
Infiltrative small vesicular diffusecutaneous mastocytosis
: code 280794
Inflammatory amyloidosis
: code 85445
Inflammatory linear verrucousepidermal nevus
: code 79466
Inflammatory myofibroblastictumor
: code 178342
Inflammatory myoglandular polyps
: code 160148
Inflammatory myopathy withabundant macrophages
: code 247718
Inflammatory peeling skinsyndrome
: code 263553
Inflammatory pseudotumor ofskeletal muscle
: code 48918
Inflammatory pseudotumor of theliver
: code 90003
Infundibulo-neurohypophysitis
: code 238305
Infundibulo-panhypophysitis
: code 95513
Infundibulopelvic stenosis-multicystic kidney syndrome
: code 1849
Inhalation anthrax disease
: code 247257
Inhalation botulism
: code 254504
Inhalational anthrax
: code 247257
Inhalational botulism
: code 254504
Inherited acute myeloid leukemia
: code 319465
Inherited AML
: code 319465
Inherited cancer-predisposing syndrome due to biallelic BRCA2mutations
: code 319462
Inherited CJD
: code 282166
Inherited congenital spasticquadriplegia
: code 210141
Inherited congenital spastictetraplegia
: code 210141
Inherited Creutzfeldt-Jakob disease
: code 282166
Inherited deficiency oftranscobalamin
: code 859
Inherited estrogen-associated
: code 100054
Inherited estrogen-associatedangioneurotic edema
: code 100054
Inherited estrogen-dependentangioedema
: code 100054
Inherited estrogen-dependentangioneurotic edema
: code 100054
Inherited glutamine synthetasedeficiency
: code 71278
Inherited GS deficiency
: code 71278
Inherited isolated adrenal insufficiency due to partial CYP11A1deficiency
: code 289548
Inherited predisposition toessential thrombocythemia
: code 225968
Inherited zinc deficiency
: code 37
Iniencephaly
: code 63259
Inoculation botulism
: code 178475
Insulin autoimmune syndrome
: code 411593
Insulin-resistance syndrome type A
: code 2297
Insulin-resistance syndrome type B
: code 2298
Insulinoma
: code 97279
Intellectual disability associatedwith fragile site FRAXE
: code 100973
Intellectual disability syndrome dueto a DYRK1A point mutation
: code 464311
Intellectual disability Birk-Bareltype
: code 166108
Intellectual disability Buenos-Airestype
: code 3079
Intellectual disability Kahrizi type
: code 324737
Intellectual disability Mietens-Weber type
: code 2557
Intellectual disability Wolff type
: code 3080
Intellectual disability-alacrima-achalasia syndrome
: code 289483
Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
: code 2466
Intellectual disability-balding- patella luxation-acromicriasyndrome
: code 3041
Intellectual disability- brachydactyly-Pierre Robinsyndrome
: code 364577
Intellectual disability-cataract-coloboma-kyphosis syndrome
: code 324737
Intellectual disability-cataracts- calcified pinnae-myopathysyndrome
: code 3042
Intellectual disability-cataracts-kyphosis syndrome
: code 171860
Intellectual disability-coarse face- macrocephaly-cerebellar hypoplasiasyndrome
: code 397709
Intellectual disability-coarse face-
: code 397709
Intellectual disability-craniofacial dysmorphism-cryptorchidismsyndrome
: code 329224
Intellectual disability- developmental delay-contracturessyndrome
: code 3454
Intellectual disability-dysmorphism- hypogonadism-diabetes mellitussyndrome
: code 3044
Intellectual disability-dysmorphism- intrauterine growth retardationsyndrome
: code 280
Intellectual disability-enteropathy- deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
: code 171851
Intellectual disability-epilepsy-bulbous nose syndrome
: code 2139
Intellectual disability-epilepsy-endocrine disorders syndrome
: code 127
Intellectual disability-epilepsy-extrapyramidal syndrome
: code 468620
Intellectual disability-epilepsy- stereotypic hand movementsyndrome
: code 435638
Intellectual disability-expressive aphasia-facial dysmorphismsyndrome
: code 436151
Intellectual disability-facial dysmorphism syndrome due toSETD5 haploinsufficiency
: code 404440
Intellectual disability-facial dysmorphism-hand anomaliessyndrome
: code 370010
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
: code 363611
Intellectual disability-hyperkineticmovement-truncal ataxia syndrome
: code 369847
Intellectual disability-hypoplastic corpus callosum-preauricular tagsyndrome
: code 1495
Intellectual disability-hypotonia- brachycephaly-pyloric stenosis-cryptorchidism syndrome
: code 314575
Intellectual disability-hypotonia-facial dysmorphism syndrome
: code 166108
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
: code 356996
Intellectual disability-hypsarrhythmia syndrome
: code 3451
Intellectual disability-loss of expressive language-facialdysmorphism syndrome
: code 436151
Intellectual disability-macrocephaly-hypotonia-behavioral
: code 457279
Intellectual disability-microcephaly- strabismus-behavioralabnormalities syndrome
: code 468678
Intellectual disability-muscle weakness-short stature-facialdysmorphism syndrome
: code 457365
Intellectual disability-myopathy- short stature-endocrine defectsyndrome
: code 3068
Intellectual disability-obesity-brain malformations-facial dysmorphismsyndrome
: code 352530
Intellectual disability-obesity- prognathism-eye and skinanomalies syndrome
: code 397973
Intellectual disability-polydactyly-uncombable hair syndrome
: code 3082
Intellectual disability-seizures- hypotonia-ophthalmologic-skeletalanomalies syndrome
: code 369837
Intellectual disability-seizures-macrocephaly-obesity syndrome
: code 369950
Intellectual disability-severe speechdelay-mild dysmorphism syndrome
: code 391372
Intellectual disability-short stature- hand contractures-genitalanomalies syndrome
: code 3409
Intellectual disability-short stature-hypertelorism syndrome
: code 3074
Intellectual disability-short stature- wedge-shaped epiphyses of kneessyndrome
: code 1240
Intellectual disability-skeletal abnormalities-joint laxity-cardiacanomalies syndrome
: code 508498
Intellectual disability-sparse hair-brachydactyly syndrome
: code 3051
Intellectual disability-spasticity-ectrodactyly syndrome
: code 1891
Intellectual disability-strabismussyndrome
: code 363528
Intellectual disability-truncalobesity syndrome
: code 397941
Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
: code 75858
Interatrial communication
: code 1478
Interauricular communication
: code 1478
Intercostal nerve syndrome
: code 51890
Interdigitating cell sarcoma
: code 86900
Interdigitating dendritic cellsarcoma
: code 86900
Interleukin-1 receptor antagonistdeficiency
: code 210115
Interleukin-2 receptor alpha chain
: code 169100
Intermediate anorectalmalformation
: code 171208
Intermediate BCKD deficiency
: code 268162
Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency
: code 268162
Intermediate cystinosis
: code 411634
Intermediate DEND syndrome
: code 99989
Intermediate lichenmyxedematosus
: code 86797
Intermediate maple syrup urinedisease
: code 268162
Intermediate MSUD
: code 268162
Intermediate nemaline myopathy
: code 171433
Intermediate osteopetrosis
: code 210110
Intermediate severe Salla disease
: code 309331
Intermediate spinal muscularatrophy
: code 83418
Intermediate uveitis
: code 279914
Intermittent BCKD deficiency
: code 268173
Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency
: code 268173
Intermittent cutaneous lupus
: code 90283
Intermittent hydrarthrosis
: code 329967
Intermittent maple syrup urinedisease
: code 268173
Intermittent MSUD
: code 268173
Intermittent neutropenia
: code 2686
Internal carotid agenesis
: code 981
Interstitial cystitis
: code 37202
Interstitial cystitis/bladder painsyndrome
: code 37202
Interstitial cystitis/painful bladdersyndrome
: code 37202
Interstitial granulomatousdermatitis with arthritis
: code 79099
Interstitial lung and liver disease
: code 440427
Interstitial lung disease due toABCA3 deficiency
: code 440402
Interstitial lung disease due to ATP- binding cassette subfamily Amember 3 deficiency
: code 440402
Interstitial lung disease due to SP-Cdeficiency
: code 440392
Interstitial lung disease due tosurfactant protein C deficiency
: code 440392
Interventricular septum aneurysm
: code 99092
Intestinal atresia type IIIb
: code 1201
Intestinal botulism
: code 178481
Intestinal colonization botulism
: code 178481
Intestinal epithelial dysplasia
: code 92050
Intestinal hypomagnesemia withsecondary hypocalcemia
: code 30924
Intestinal lipodystrophy
: code 3452
Intestinal lipophagic
: code 3452
Intestinal obstruction in the newborn due to guanylate cyclase2C deficiency
: code 314376
Intestinal T-cell lymphoma
: code 86880
Intestinal toxemia botulism
: code 178481
Intestinal toxin-mediated botulism
: code 178481
Intoxication botulism
: code 228371
Intracranial arteriovenousmalformation
: code 46724
Intracranial endodermal sinustumor
: code 252006
Intracranial yolk sac tumor
: code 252006
Intractable diarrhea-choanalatresia-eye anomalies syndrome
: code 137622
Intraductal papillary mucinouscarcinoma of pancreas
: code 424058
Intrahepatic bile ductcystadenocarcinoma
: code 424982
Intrahepatic cholestasis ofpregnancy
: code 69665
Intralobar congenitalbronchopulmonary sequestration
: code 280802
Intralobar congenital pulmonarysequestration
: code 280802
Intramural coronary arterial course
: code 99088
Intraneural perineurioma
: code 100003
Intraocular medulloepithelioma
: code 268139
Intraosseous hemangioma
: code 140436
Intrauterine adhesions
: code 137686
Intrauterine growth restriction- short stature-early adult-onsetdiabetes syndrome
: code 436144
Intrauterine growth retardation- metaphyseal dysplasia-adrenal hypoplasia congenita-genitalanomalies syndrome
: code 85173
Intrauterine synechiae
: code 137686
Intravascular large B-cell lymphoma
: code 98839
Intravascular lymphomatosis
: code 98839
Intrinsic factor deficiency
: code 332
iNTS disease
: code 324648
Invasive candidiasis-deepdermatophytosis syndrome
: code 457088
Invasive infections due tovancomycin-resistant enterococci
: code 90078
Invasive infections due to VRE
: code 90078
Invasive mole
: code 99925
Invasive non-typhoidal salmonelladisease
: code 324648
Invasive non-typhoidalsalmonellosis
: code 324648
Invdup(15)
: code 3306
Invdupdel(8p)
: code 96092
Inverse JEB
: code 79405
Inverse Klippel-Trnaunaysyndrome
: code 329324
Inverse Marcus-Gunn phenomenon
: code 98951
Inverse RDEB
: code 79409
Inverse recessive dystrophicepidermolysis bullosa
: code 79409
Inverted 8p duplication/deletionsyndrome
: code 96092
Inverted smile-neurogenic bladdersyndrome
: code 2704
IOMID syndrome
: code 1451
ION
: code 499096
IOSCA
: code 1186
IPAH
: code 275766
iPAP
: code 747
IPD
: code 238455
IPEX
: code 37042
Ipp-Gelfand syndrome
: code 1006
IPPFE
: code 494428
IPS
: code 88621
IPSID
: code 100025
IQSEC2-related syndromicintellectual disability
: code 397933
IRAK4 deficiency
: code 70592
IRD
: code 772
IRIDA syndrome
: code 209981
Iridocorneal endothelial syndrome
: code 64734
Iris dysplasia-hypertelorism-deafness syndrome
: code 782
Iris melanoma
: code 39044
Iron-refractory iron deficiencyanemia
: code 209981
Iron-sulfur cluster deficiencymyopathy
: code 43115
Irons-Bhan syndrome
: code 86915
Irons-Bianchi syndrome
: code 86915
IRVAN syndrome
: code 209943
Isaac syndrome
: code 84142
Isaac-Mertens syndrome
: code 84142
Ischio-spinal dysostosis
: code 85200
Ischio-vertebral dysplasia
: code 85200
Ischio-vertebral syndrome
: code 85200
Ischiopatellar dysplasia
: code 1509
ISCU myopathy
: code 43115
Iso-Kikuchi syndrome
: code 79144
Isobutyric aciduria
: code 79159
Isobutyryl-CoA dehydrogenasedeficiency
: code 79159
Isochromosome 5p
: code 3309
Isochromosome 9p
: code 3310
Isochromosome 12p mosaicism
: code 884
Isochromosome 12p syndrome
: code 884
Isochromosome 18p
: code 3307
Isochromosome 21
: code 96055
Isochromosomy Yp
: code 98797
Isochromosomy Yq
: code 98798
ISOD
: code 99731
Isodicentric 15 chromosome
: code 3306
Isolated acute necrotizingencephalopathy
: code 263524
Isolated agammaglobulinemia
: code 229717
Isolated agenesis of gallbladder
: code 440987
Isolated amyelia
: code 268868
Isolated ANE
: code 263524
Isolated anencephaly/exencephaly
: code 1048
Isolated angiitis of the centralnervous system
: code 140989
Isolated aniridia
: code 250923
Isolated ankyloblepharon filiformeadnatum
: code 91397
Isolated anonychia
: code 79143
Isolated anorectal malformation
: code 557
Isolated anterior cervicalhypertrichosis
: code 3387
Isolated apertura pyriformisstenosis
: code 162516
Isolated arhinencephaly
: code 268936
Isolated arrhinia
: code 1134
Isolated asymmetric crying facies
: code 1166
Isolated asymptomatic elevation ofcreatine phosphokinase
: code 206599
Isolated asymptomatichyperCKemia
: code 206599
Isolated ATP synthase deficiency
: code 254913
Isolated atresia of bile ducts
: code 30391
Isolated autosomal dominanthypomagnesemia
: code 34528
Isolated autosomal dominanthypomagnesemia Glaudemans type
: code 199326
Isolated bilateral hemisphericcerebellar hypoplasia
: code 269221
Isolated biliary atresia
: code 30391
Isolated bone marrow mastocytosis
: code 158778
Isolated brachycephaly
: code 35099
Isolated cerebellar agenesis
: code 1398
Isolated cerebellar vermis agenesis
: code 269203
Isolated cerebellar vermishypoplasia
: code 199630
Isolated CHF
: code 485426
Isolated cleft lip
: code 199302
Isolated cleft of the ala nasi
: code 141242
Isolated cloverleaf skull syndrome
: code 2343
Isolated coenzyme Q-cytochrome Creductase deficiency
: code 1460
Isolated coloboma of the nose
: code 141242
Isolated complex I deficiency
: code 2609
Isolated complex III deficiency
: code 1460
Isolated congenital acropachy
: code 217059
Isolated congenital
: code 289465
Isolated congenital alacrima
: code 91416
Isolated congenital amastia
: code 180188
Isolated congenital anonychia
: code 79143
Isolated congenital anosmia
: code 88620
Isolated congenital auditory ossiclemalformation
: code 162526
Isolated congenital breasthypoplasia/aplasia
: code 180188
Isolated congenital controlateralsynkinesia
: code 238722
Isolated congenital digital clubbing
: code 217059
Isolated congenital ectropion
: code 99171
Isolated congenital elbowdislocation
: code 295032
Isolated congenital gonadotropindeficiency
: code 432
Isolated congenital hepatic fibrosis
: code 485426
Isolated congenitalhypoglossia/aglossia
: code 141152
Isolated congenitalmaxillomandibular fusion
: code 141214
Isolated congenital megalocornea
: code 91489
Isolated congenital microcephaly
: code 199642
Isolated congenital mirrormovements
: code 238722
Isolated congenital nail clubbing
: code 217059
Isolated congenital nasal pyriformaperture stenosis
: code 162516
Isolated congenital onychodysplasia
: code 79144
Isolated congenital radial headdislocation
: code 295032
Isolated congenital sclerocornea
: code 91490
Isolated congenital syngnathia
: code 141214
Isolated congenitally uncorrectedtransposition of the great arteries
: code 216718
Isolated congenitally uncorrectedtransposition of the great vessels
: code 216718
Isolated CoQ-cytochrome Creductase deficiency
: code 1460
Isolated COX deficiency
: code 254905
Isolated cryptophthalmia
: code 91396
Isolated cytochrome C oxidasedeficiency
: code 254905
Isolated Dandy-Walkermalformation
: code 217
Isolated Dandy-Walkermalformation with hydrocephalus
: code 269212
Isolated Dandy-Walker malformation withouthydrocephalus
: code 269215
Isolated delta-SPD
: code 248340
Isolated delta-storage pool disease
: code 248340
Isolated dense-SPD
: code 248340
Isolated dense-storage pool disease
: code 248340
Isolated distichiasis
: code 99177
Isolated dolichocephaly
: code 35093
Isolated ectopia lentis
: code 1885
Isolated encephalocele
: code 199647
Isolated facial myokymia
: code 221106
Isolated focal cortical dysplasia
: code 65683
Isolated focal cortical dysplasia type2
: code 268994
Isolated focal cortical dysplasia typeI
: code 268961
Isolated focal cortical dysplasia typeIa
: code 268973
Isolated focal cortical dysplasia typeIb
: code 268980
Isolated focal cortical dysplasia typeIc
: code 268987
Isolated focal cortical dysplasia typeII
: code 268994
Isolated focal cortical dysplasia typeIIa
: code 269001
Isolated focal cortical dysplasia typeIIb
: code 269008
Isolated focal non-epidermolyticpalmoplantar keratoderma
: code 448264
Isolated follicle stimulatinghormone deficiency
: code 52901
Isolated FSH deficiency
: code 52901
Isolated generalized anhidrosis withnormal sweat glands
: code 468666
Isolated genetic deafness
: code 87884
Isolated glycerol kinase deficiency
: code 408
Isolated growth hormonedeficiency type IA
: code 231662
Isolated growth hormonedeficiency type IB
: code 231671
Isolated growth hormonedeficiency type II
: code 231679
Isolated growth hormonedeficiency type III
: code 231692
Isolated hemihyperplasia
: code 2128
Isolated hemihypertrophy
: code 2128
Isolated hereditary congenital facialparalysis
: code 306527
Isolated hypogammaglobulinemia
: code 229717
Isolated IgG subclass deficiency
: code 183675
Isolated Klippel-Feil syndrome
: code 2345
Isolated lissencephaly type 1without known genetic defects
: code 1084
Isolated macrencephaly
: code 268920
Isolated median cleft facesyndrome
: code 391474
Isolated megalencephaly
: code 268920
Isolated mesenteric lipodystrophy
: code 238593
Isolated micropenis
: code 95707
Isolated mitochondrial
: code 90641
Isolated mitochondrial respiratorychain complex I deficiency
: code 2609
Isolated mitochondrial respiratorychain complex II deficiency
: code 3208
Isolated mitochondrial respiratorychain complex III deficiency
: code 1460
Isolated mitochondrial respiratorychain complex IV deficiency
: code 254905
Isolated mitochondrial respiratorychain complex V deficiency
: code 254913
Isolated mitochondrialsensorineural deafness
: code 90641
Isolated NADH-coenzyme Qreductase deficiency
: code 2609
Isolated NADH-CoQ reductasedeficiency
: code 2609
Isolated NADH-ubiquinonereductase deficiency
: code 2609
Isolated nasal pyriform aperturehypoplasia
: code 162516
Isolated neck extensor myopathy
: code 447881
Isolated neonatal sclerosingcholangitis
: code 480556
Isolated nose agenesis
: code 1134
Isolated optic nervehypoplasia/aplasia
: code 137902
Isolated optic neuritis
: code 499096
Isolated osteopoikilosis
: code 166119
Isolated oxycephaly
: code 63440
Isolated partial cerebellar vermisagenesis
: code 269209
Isolated partial vaginal agenesis
: code 96269
Isolated Pierre Robin sequence
: code 718
Isolated Pierre Robin syndrome
: code 718
Isolated plagiocephaly
: code 35098
Isolated polycystic liver disease
: code 2924
Isolated polythelia
: code 2456
Isolated postlingual geneticdeafness
: code 216452
Isolated prelingual genetic deafness
: code 216445
Isolated prothyroliberin deficiency
: code 238670
Isolated protirelin deficiency
: code 238670
Isolated pulmonary capillaritis
: code 264691
Isolated renal magnesium wasting
: code 34528
Isolated right ventricular hypoplasia
: code 439
Isolated scaphocephaly
: code 35093
Isolated SCCH
: code 178311
Isolated sedoheptulokinasedeficiency
: code 440713
Isolated SHPK deficiency
: code 440713
Isolated splenogonadal fusion
: code 457083
Isolated split hand-split footmalformation
: code 2440
Isolated sternocostoclavicular
: code 178311
Isolated succinate-coenzyme Qreductase deficiency
: code 3208
Isolated succinate-CoQ reductasedeficiency
: code 3208
Isolated succinate-ubiquinonereductase deficiency
: code 3208
Isolated sulfite oxidase deficiency
: code 99731
Isolated thyroid-stimulatinghormone deficiency
: code 90674
Isolated thyroliberin deficiency
: code 238670
Isolated thyrotropin deficiency
: code 90674
Isolated thyrotropin-releasingfactor deficiency
: code 238670
Isolated thyrotropin-releasinghormone deficiency
: code 238670
Isolated total cerebellar vermisagenesis
: code 269206
Isolated tracheoesophageal fistula
: code 454750
Isolated trehalose intolerance
: code 103909
Isolated TRF deficiency
: code 238670
Isolated TRH deficiency
: code 238670
Isolated trigonocephaly
: code 3366
Isolated TSH deficiency
: code 90674
Isolated TSH-releasing factordeficiency
: code 238670
Isolated ubiquinone-cytochrome Creductase deficiency
: code 1460
Isolated unilateral hemisphericcerebellar hypoplasia
: code 269218
Isolated ventriculoarterialdiscordance
: code 860
Isolated vitamin E deficiency
: code 96
Isosporiasis
: code 472
Isotretinoin embryopathy
: code 2305
Isotretinoin syndrome
: code 2305
Isotretinoin-like syndrome
: code 2306
Isovaleric acid CoA dehydrogenasedeficiency
: code 33
Isovaleric acidemia
: code 33
ISSD
: code 309324
Itin syndrome
: code 33364
ITM2B amyloidosis
: code 439254
ITM2B-related amyloidosis
: code 439254
ITM2B-related cerebral amyloidangiopathy
: code 439254
Ito hypomelanosis
: code 435
ITP
: code 3002
ITPA-related encephalopathy
: code 457375
IU
: code 279914
IVC interruption
: code 99123
Ivemark II syndrome
: code 294415
Ivemark syndrome
: code 97548
IVIC syndrome
: code 2307
IWC
: code 281190
Jackson-Barr syndrome
: code 3236
Jackson-Weiss syndrome
: code 1540
Jacobs syndrome
: code 2848
Jacobsen syndrome
: code 2308
JAE
: code 1941
Jaffe-Campanacci syndrome
: code 636
Jaffe-Lichtenstein disease
: code 93277
Jagell-Holmgren-Hofer syndrome
: code 2269
Jalili syndrome
: code 1873
JALS
: code 300605
Jamaican vomiting sickness
: code 73423
Jamaican vomiting syndrome
: code 73423
Jancar syndrome
: code 1891
Jankovic-Rivera syndrome
: code 2590
Jansky-Bielschowsky disease
: code 168491
Japanese encephalitis
: code 79139
Jarcho-Levin syndrome
: code 2311
JATD
: code 474
Jaw-winking syndrome
: code 91412
Jawad syndrome
: code 313795
JBS
: code 2315
JBTS with JATD
: code 397715
Jeavons syndrome
: code 139431
JEB with respiratory and renalinvolvement
: code 306504
JEB generalized intermediate
: code 79402
JEB generalized severe
: code 79404
JEB-H
: code 79404
JEB-I
: code 79405
JEB-lo
: code 79406
JEB-nH gen
: code 79402
JEB-nH loc
: code 251393
JEB-PA
: code 79403
JEB-RR
: code 306504
Jejunal atresia
: code 1201
Jejunal atresia-microcephaly-ocularanomalies syndrome
: code 506307
Jejunal neuroendocrine neoplasm
: code 100077
Jejunal neuroendocrine tumor
: code 100077
Jejunoileal atresia
: code 1201
JEN-nH
: code 89840
Jensen syndrome
: code 52368
Jervell and Lange-Nielsen syndrome
: code 90647
Jessner lymphocytic infiltration ofthe skin
: code 33314
Jessner-Kanof lymphocyticinfiltration of the skin
: code 33314
JET
: code 3283
Jeune asphyxiating thoracicdystrophy
: code 474
Jeune syndrome
: code 474
JHD
: code 248111
JIP
: code 2929
JMADUE
: code 65684
JME
: code 307
JMML
: code 86834
JMP syndrome
: code 324999
JNA
: code 289596
JNCL
: code 79264
Job syndrome
: code 2314
Johanson-Blizzard syndrome
: code 2315
Johnson neuroectodermalsyndrome
: code 2316
Johnson syndrome
: code 85320
Johnson-McMillin syndrome
: code 2316
Johnson-Munson syndrome
: code 1112
Johnston-Aarons-Schelleysyndrome
: code 1485
Joint contractures-muscular atrophy-microcytic anemia- panniculitis-associatedlipodystrophy syndrome
: code 324999
Joint instability syndrome
: code 2295
Jones syndrome
: code 2027
Joubert syndrome
: code 475
Joubert syndrome type A
: code 475
Joubert syndrome with congenitalhepatic fibrosis
: code 1454
Joubert syndrome with hepaticdefect
: code 1454
Joubert syndrome with JATD
: code 397715
Joubert syndrome with Jeuneasphyxiating thoracic dystrophy
: code 397715
Joubert syndrome with oculardefect
: code 220493
Joubert syndrome with oculorenaldefect
: code 2318
Joubert syndrome with oral-facial-digital syndrome
: code 2754
Joubert syndrome withorofaciodigital defect
: code 2754
Joubert syndrome with renal defect
: code 220497
Joubert syndrome with retinopathy
: code 220493
Joubert syndrome with Senior-Loken syndrome
: code 2318
Joubert-Boltshauser syndrome
: code 475
JPG
: code 2801
JPLS
: code 247604
JPS
: code 2929
JS type B
: code 2318
JS-H
: code 1454
JS-O
: code 220493
JS-OR
: code 2318
JS-R
: code 220497
JTA
: code 26137
Juberg-Hayward syndrome
: code 2319
Juberg-Hellman syndrome
: code 101039
Juberg-Marsidi syndrome
: code 93972
Junctional ectopic tachycardia
: code 3283
Junctional epidermolysis bullosageneralisata gravis
: code 79404
Junctional epidermolysis bullosageneralisata mitis
: code 79402
Junctional epidermolysis bullosainversa
: code 79405
Junctional epidermolysis bullosawith respiratory and renal involvement
: code 306504
Junctional epidermolysis bullosa Disentis type
: code 79402
Junctional epidermolysis bullosa generalized intermediate
: code 79402
Junctional epidermolysis bullosa generalized severe
: code 79404
Junctional epidermolysis bullosa Herlitz type
: code 79404
Junctional epidermolysis bullosa Herlitz-Pearson type
: code 79404
Junctional epidermolysis bullosa non-Herlitz type
: code 89840
Junctional epidermolysis bullosa-pyloric atresia syndrome
: code 79403
Jung-Wolff-Back-Stahl syndrome
: code 2321
Junin hemorrhagic fever
: code 319223
Jussieu syndrome
: code 989
Juvenile absence epilepsy
: code 1941
Juvenile acquired myasthenia
: code 391497
Juvenile amyotrophic lateralsclerosis
: code 300605
Juvenile aponeurotic fibromatosis
: code 199260
Juvenile autoimmune myastheniagravis
: code 391497
Juvenile Canavan disease
: code 314918
Juvenile cataract-microcornea-renalglucosuria syndrome
: code 247794
Juvenile Charcot disease
: code 300605
Juvenile chronic myelomonocyticleukemia
: code 86834
Juvenile cystinosis
: code 411634
Juvenile dermatomyositis
: code 93672
Juvenile DM
: code 93672
Juvenile elastoma withoutosteopoikilosis
: code 228254
Juvenile gastrointestinal polyposis
: code 2929
Juvenile glaucoma
: code 98977
Juvenile GM1 gangliosidosis
: code 79256
Juvenile GM2 gangliosidosis 0variant
: code 309162
Juvenile hemochromatosis
: code 79230
Juvenile hereditary epithelialdystrophy of Meesmann
: code 98954
Juvenile Huntington chorea
: code 248111
Juvenile Huntington disease
: code 248111
Juvenile hyaline fibromatosis
: code 2028
Juvenile idiopathic rheumatoidfactor-positive polyarthritis
: code 85435
Juvenile intestinal polyposis
: code 2929
Juvenile Lou Gehrig disease
: code 300605
Juvenile muscular atrophy of distalupper extremity
: code 65684
Juvenile muscular atrophy of thedistal upper limb
: code 65684
Juvenile myasthenia gravis
: code 391497
Juvenile myelomonocytic leukemia
: code 86834
Juvenile myoclonic epilepsy
: code 307
Juvenile myoclonus epilepsy
: code 307
Juvenile nasopharyngealangiofibroma
: code 289596
Juvenile NCL
: code 79264
Juvenile nephronophthisis
: code 93592
Juvenile nephropathic cystinosis
: code 411634
Juvenile neuronal ceroidlipofuscinosis
: code 79264
Juvenile or adult CACH syndrome
: code 157719
Juvenile osteoporosis
: code 85193
Juvenile overlap myositis
: code 329894
Juvenile Paget disease
: code 2801
Juvenile Paget’s disease
: code 2801
Juvenile PLS
: code 247604
Juvenile PM
: code 93568
Juvenile polymyositis
: code 93568
Juvenile polyposis of infancy
: code 79076
Juvenile polyposis syndrome
: code 2929
Juvenile primary lateral sclerosis
: code 247604
Juvenile psoriatic arthritis
: code 85436
Juvenile rheumatoid factor-negative polyarthritis
: code 85408
Juvenile rheumatoid factor- negative polyarthritis with anti-nuclear antibodies
: code 247854
Juvenile rheumatoid factor- negative polyarthritis without anti-nuclear antibodies
: code 247861
Juvenile sialidosis type 2
: code 93399
Juvenile spinal muscular atrophy
: code 83419
Juvenile sulfatidosis Austin type
: code 585
Juvenile temporal arteritis
: code 26137
Juvenile xanthogranuloma
: code 158000
Juvenile-onset diabetes mellitus- central and peripheralneurodegeneration syndrome
: code 445062
Juvenile-onset multiple carboxylasedeficiency
: code 79241
Juvenile-onset vitelliform maculardystrophy
: code 1243
Juxtaposition of the atrialappendages
: code 99100
Juxtaposition of the atrial auricles
: code 99100
JWS
: code 1540
Kabuki make-up syndrome
: code 2322
Kabuki syndrome
: code 2322
Kaeser syndrome
: code 85146
Kagami-Ogata syndrome
: code 254519
Kahler’s disease
: code 29073
Kahrizi syndrome
: code 324737
Kaler-Garrity-Stern syndrome
: code 2324
Kallin syndrome
: code 2325
Kallmann syndrome
: code 478
Kallmann syndrome-heart diseasesyndrome
: code 2326
Kandori fleck retina
: code 99179
Kantaputra mesomelic dysplasia
: code 1836
Kanzaki disease
: code 79280
Kaplan-Plauchu-Fitch syndrome
: code 949
Kaplowitz-Bodurtha syndrome
: code 3157
Kaposi sarcoma
: code 33276
Kaposiform hemangioendothelioma
: code 2122
Kaposiform lymphangiomatosis
: code 464329
Kappa-chain deficiency
: code 183675
Kapur-Toriello syndrome
: code 2328
Karandikar-Maria-Kamblesyndrome
: code 1381
Karsch-Neugebauer syndrome
: code 2329
Kartagener syndrome
: code 244
Karyomegalic interstitial nephritis
: code 401996
Kasabach-Merritt syndrome
: code 2330
Kasznica-Carlson-Coppedgesyndrome
: code 1894
Katsantoni-Papadakou Lagoyannisyndrome
: code 3360
Kaufman-Mckusick syndrome
: code 2473
Kawasaki disease
: code 2331
Kawashima syndrome
: code 2306
Kawashima-Tsuji syndrome
: code 2533
KBG syndrome
: code 2332
KCNQ2-NEE
: code 439218
KCNQ2-related epilepticencephalopathy
: code 439218
KCNQ2-related neonatal epilepticencephalopathy
: code 439218
KdVS
: code 96169
Kearns-Sayre syndrome
: code 480
Keasby tumor
: code 199260
Keipert syndrome
: code 2662
Kelley-Seegmiller syndrome
: code 79233
Kelly-Kirson-Wyatt syndrome
: code 313795
Kelly-Paterson syndrome
: code 54028
Kennedy disease
: code 481
Kennedy-Teebi syndrome
: code 64542
Kenny syndrome
: code 2333
Kenny-Caffey syndrome
: code 2333
Keppen-Lubinsky syndrome
: code 435628
Keratitis-ichthyosis-
: code 477
Keratocystic odontogenic tumor
: code 447777
Keratoderma hereditariummutilans
: code 494
Keratoderma hereditariummutilans with ichthyosis
: code 79395
Keratoderma with woolly hair typeI
: code 34217
Keratoderma with woolly hair typeII
: code 65282
Keratoderma with woolly hair typeIV
: code 420686
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
: code 79395
Keratodermia palmoplantaris papulosa Buschke-Fischer-Brauertype
: code 79501
Keratolytic winter erythema
: code 50943
Keratosis extremitatum hereditariaprogrediens
: code 495
Keratosis follicularis
: code 218
Keratosis follicularis spinulosadecalvans
: code 2340
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
: code 2339
Keratosis linearis-ichthyosis congenita-sclerosing keratodermasyndrome
: code 281201
Keratosis palmaris et plantaris-clinodactyly syndrome
: code 86919
Keratosis palmoplantar-periodontopathy syndrome
: code 678
Keratosis palmoplantarisnummularis
: code 79141
Keratosis palmoplantaris striata
: code 50942
Keratosis palmoplantaris striata etareata
: code 50942
Keratosis palmoplantaristransgrediens et progrediens
: code 495
Keratosis palmoplantaristransgrediens of Siemens
: code 87503
Keratosis palmoplantaris varians ofWachters
: code 50942
Keratosis palmoplantaris witharrythmogenic cardiomyopathy
: code 34217
Keratosis palmoplantaris-cornealdystrophy syndrome
: code 28378
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosissyndrome
: code 50944
Keratosis palmoplantaris-esophageal carcinoma syndrome
: code 2198
Keratosis palmoplantaris-periodontopathia-onychogryposis
: code 2342
Kerion celsi
: code 499
Kernicterus
: code 415286
Kernicterus spectrum disorder
: code 415286
Kersey syndrome
: code 3351
Ketamine-induced biliary dilatation
: code 293807
Ketoacidosis due to monocarboxylate transporter-1deficiency
: code 438075
Ketoaciduria-intellectual disability-ataxia-deafness syndrome
: code 1399
Ketohexokinase deficiency
: code 2056
Ketotic hyperglycinemia
: code 35
Keutel syndrome
: code 85202
Khalifa-Graham syndrome
: code 2988
Ki-1 positive anaplastic large celllymphoma
: code 98841
KID syndrome
: code 477
KID/HID syndrome
: code 477
Kienbock disease
: code 97332
Kikuchi disease
: code 50918
Kikuchi-Fujimoto disease
: code 50918
Kimura disease
: code 482
KIN
: code 401996
Kindler syndrome
: code 2908
King-Denborough syndrome
: code 99741
Kinky hair disease
: code 565
Kinky hair syndrome
: code 565
Kinsbourne syndrome
: code 1183
Kjellin syndrome
: code 100996
Kjer optic atrophy
: code 98673
Klatskin tumor
: code 99978
Kleefstra syndrome
: code 261494
Kleefstra syndrome due to 9qsubtelomeric deletion
: code 96147
Kleefstra syndrome due to 9q34microdeletion
: code 96147
Kleefstra syndrome due to a pointmutation
: code 261652
Kleefstra syndrome due todel(9)(q34)
: code 96147
Kleefstra syndrome due tomonosomy 9q34
: code 96147
Klein-Waardenburg syndrome
: code 896
Kleine-Levin syndrome
: code 33543
Kleiner-Holmes syndrome
: code 2110
KLHL9-related early-onset distalmyopathy
: code 399081
KLICK syndrome
: code 281201
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
: code 447974
Klippel-Feil malformation
: code 2345
Klippel-Feil sequence
: code 2345
Klippel-Trnaunay syndrome
: code 90308
Klippel-Trnaunay-Webersyndrome
: code 2346
Klver-Bucy syndrome
: code 157823
Kniest dysplasia
: code 485
Knobloch syndrome
: code 1571
Knobloch-Layer syndrome
: code 1571
Knuckle pads-leukonychia- sensorineural deafness- palmoplantar hyperkeratosissyndrome
: code 2698
Knuckle pads-leukonychia- sensorineural deafness- palmoplantar keratodermasyndrome
: code 2698
Kocher-Debr-Semelaignesyndrome
: code 2349
Khlmeier-Degos disease
: code 679
Khlmeier-Degos-Delort-Tricortsyndrome
: code 679
Kohlschutter-Tonz syndrome
: code 1946
Kok disease
: code 3197
Kommerell diverticulum
: code 99077
Komuragaeri disease
: code 3130
Knig disease
: code 2764
Konigsmark-Knox-Husselssyndrome
: code 1215
Koolen-De Vries syndrome
: code 96169
Koolen-De Vries syndrome due to apoint mutation
: code 363965
Kopysc-Barczyk-Krol syndrome
: code 2892
KOS
: code 254519
Kosaki overgrowth syndrome
: code 477831
Kosenow syndrome
: code 2839
Kostmann syndrome
: code 99749
Kosztolanyi syndrome
: code 1129
Koussef-Nichols syndrome
: code 99741
Kousseff syndrome
: code 2351
Kowarski syndrome
: code 629
Kozlowski-Brown-Hardwicksyndrome
: code 2462
Kozlowski-Krajewska syndrome
: code 3082
Kozlowski-Tsuruta syndrome
: code 2204
Krabbe disease
: code 487
Krabbe disease classic form
: code 206436
Krabbe disease early-onset
: code 206436
Krabbe disease late-onset
: code 206443
Krasnow-Qazi syndrome
: code 1345
Krause-Kivlin syndrome
: code 709
Krause-van Schooneveld-Kivlinsyndrome
: code 709
Kreiborg-Pakistani syndrome
: code 284149
KRT14-related autosomal recessiveEBS
: code 89838
KRT14-related autosomal recessiveepidermolysis bullosa simplex
: code 89838
KS
: code 2908
KTCNCT
: code 293936
KTOC
: code 447777
Kufor-Rakeb syndrome
: code 306674
Kufs disease
: code 79262
Kugelberg-Welander disease
: code 83419
Kumar-Levick syndrome
: code 1487
Kunze-Riehm syndrome
: code 2505
Kurczynski-Casperson syndrome
: code 794
Kuru
: code 454745
Kuskokwim disease
: code 1149
Kssmaul-Maier disease
: code 767
Kttner tumor
: code 449432
Kuzniecky syndrome
: code 2798
KWWH type I
: code 34217
KWWH type II
: code 65282
KWWH type IV
: code 420686
Kyasanur forest disease
: code 319254
Kyasanur hemorrhagic fever
: code 319254
Kynureninase deficiency
: code 79155
Kyphomelic dysplasia
: code 1801
Kyphoscoliosis-lateral tongue atrophy-hereditary spasticparaplegia syndrome
: code 496689
Kyphoscoliosis-lateral tongueatrophy-HSP syndrome
: code 496689
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
: code 496686
L1 syndrome
: code 275543
L1CAM syndrome
: code 275543
L-2-HGA
: code 79314
L-2-hydroxyglutaric acidemia
: code 79314
L-2-hydroxyglutaric aciduria
: code 79314
L-Arginine:glycineamidinotransferase deficiency
: code 35704
L-CMD
: code 157973
L-CPT1 deficiency
: code 156
L-CPTI deficiency
: code 156
L-ferritin deficiency
: code 440731
L-glyceric aciduria
: code 93599
L-transposition of the great arteries
: code 216694
La Crosse encephalitis
: code 83483
LAAHD
: code 53696
Laband syndrome
: code 3473
Lacrimoauriculodentodigitalsyndrome
: code 2363
Lacrimoauriculoradiodentalsyndrome
: code 2363
Lactate dehydrogenase A deficiency
: code 284426
Lactate dehydrogenase B deficiency
: code 284435
Lactotroph adenoma
: code 2965
LAD
: code 2968
LAD-1 variant
: code 99844
LAD-I
: code 99842
LAD-II
: code 99843
LAD-III
: code 99844
LADD syndrome
: code 2363
Ladda-Zonana-Ramer syndrome
: code 1484
LAEB
: code 158687
Lafora disease
: code 501
Lagophthalmia-cleft lip and palatesyndrome
: code 1997
Laing early-onset distal myopathy
: code 59135
LAL deficiency
: code 275761
LAM
: code 538
LAMB2-related infantile-onsetnephrotic syndrome
: code 306507
Lambert syndrome
: code 1296
Lambert-Eaton myasthenicsyndrome
: code 43393
Lamellar ichthyosis
: code 313
LAMM syndrome
: code 90024
Landau-Kleffner syndrome
: code 98818
Landing disease
: code 354
Landouzy-Dejerine myopathy
: code 269
Lane disease
: code 231031
Langer mesomelic dysplasia
: code 2632
Langer-Giedion syndrome
: code 502
Langerhans cell sarcoma
: code 86897
Laparoschisis
: code 2368
Laplane-Fontaine-Lagarderesyndrome
: code 1159
LARD syndrome
: code 2363
Large cell lymphoma of themediastinum
: code 98838
Large congenital melanocytic nevus
: code 626
Laron syndrome
: code 633
Laron syndrome withimmunodeficiency
: code 220465
Laron-like syndrome
: code 220465
Laron-type dwarfism
: code 633
Larsen-like osseous dysplasia-shortstature syndrome
: code 2370
Larsen-like syndrome B3GAT3 type
: code 284139
Laryngeal abductor paralysis
: code 2808
Laryngeal abductor paralysis-intellectual disability syndrome
: code 2375
Laryngeal and ocular granulation tissue in children from the Indiansubcontinent syndrome
: code 2407
Laryngeal neuroendocrine tumor
: code 100083
Laryngo-onycho-cutaneoussyndrome
: code 2407
Laryngo-tracheo-esophageal cleft
: code 2004
Laryngo-tracheo-esophageal clefttype 0
: code 280205
Laryngo-tracheo-esophageal clefttype 1
: code 93938
Laryngo-tracheo-esophageal cleft
: code 93939
Laryngo-tracheo-esophageal clefttype 3
: code 93940
Laryngo-tracheo-esophageal clefttype 4
: code 93941
Laryngo-tracheo-esophagealdiastema
: code 2004
Laryngocele
: code 2372
Laryngotracheal angioma
: code 137935
Laryngotracheoesophageal cleft
: code 2004
Laryngotracheoesophageal clefttype 0
: code 280205
Laryngotracheoesophageal clefttype 1
: code 93938
Laryngotracheoesophageal clefttype 2
: code 93939
Laryngotracheoesophageal clefttype 3
: code 93940
Laryngotracheoesophageal clefttype 4
: code 93941
Larynx atresia
: code 1202
Lassa fever
: code 99824
Lassa hemorrhagic fever
: code 99824
Late hereditary endothelialdystrophy
: code 98974
Late infantile CACH syndrome
: code 157716
Late infantile NCL
: code 168491
Late infantile neuronal ceroidlipofuscinosis
: code 168491
Late-infantile GM1 gangliosidosis
: code 79256
Late-infantile/juvenile Krabbedisease
: code 206443
Late-onset benign childhoodoccipital epilepsy
: code 98816
Late-onset citrullinemia type 1
: code 247573
Late-onset citrullinemia type I
: code 247573
Late-onset distal crystallinopathy
: code 399058
Late-onset distal myopathy Markesbery-Griggs type
: code 98912
Late-onset focal dermal elastosis
: code 228227
Late-onset infantile spasms
: code 163708
Late-onset isolated ACTH deficiency
: code 199299
Late-onset junctional epidermolysisbullosa
: code 79406
Late-onset localized junctional epidermolysis bullosa-intellectualdisability syndrome
: code 231556
Late-onset multiple carboxylasedeficiency
: code 79241
Late-onset nephronophthisis
: code 93589
Late-onset primary lymphedema
: code 90186
Late-onset retinal degeneration
: code 67042
Lateral meningocele syndrome
: code 2789
Laterofacial microsomia
: code 141136
Lathosterolosis
: code 46059
Lattice corneal dystrophy type 1
: code 98964
Lattice corneal dystrophy type I
: code 98964
Laubry-Pezzi syndrome
: code 99094
Launois-Bensaude lipomatosis
: code 2398
Laurence-Moon syndrome
: code 2377
Laurin-Sandrow syndrome
: code 2378
Lawrence syndrome
: code 79086
Lawrence-Seip syndrome
: code 79086
Laxova-Opitz syndrome
: code 2379
LBSL
: code 137898
LBWC syndrome
: code 2369
LC
: code 2004
LCAD
: code 99900
LCAT deficiency
: code 650
LCCS1
: code 1486
LCCS2
: code 137776
LCCS3
: code 137783
LCCS5
: code 363409
LCD1
: code 98964
LCDD
: code 93558
LCDI
: code 98964
LCHAD deficiency
: code 5
LCHADD
: code 5
LCM
: code 52416
LCMN
: code 626
LCPS
: code 363618
LDD
: code 65285
LDH deficiency
: code 2364
LDH-H subunit deficiency
: code 284435
LDH-M subunit deficiency
: code 284426
Le Merrer syndrome
: code 2616
Lead intoxication
: code 330015
Lead poisoning
: code 330015
Learman syndrome
: code 3246
Leber congenital amaurosis
: code 65
Leber hereditary optic neuropathy
: code 104
Leber miliary aneurysm
: code 190
Leber optic atrophy
: code 104
Leber plus disease
: code 99718
LECD
: code 98955
Lecithin-cholesterol acyltransferasedeficiency
: code 650
Ledderhose disease
: code 199251
Left renal vein entrapmentsyndrome
: code 71273
Left superior caval vein persistingto left-sided atrium
: code 99111
Left superior caval vein persistingto the left-sided atrium
: code 99109
Left superior vena cava persistingto left-sided atrium
: code 99111
Left SVC persisting to left-sidedatrium
: code 99111
Left ventricular hypertrabeculation
: code 54260
Left ventricular noncompaction
: code 54260
Left ventricular-to-right atrialcommunication
: code 99095
Leg duplication-mirror footsyndrome
: code 1757
Legg-Calv-Perthes disease
: code 2380
Legionellosis
: code 549
Legionnaires disease
: code 549
Legius syndrome
: code 137605
Lehman syndrome
: code 2789
Leichtman-Wood-Rohn syndrome
: code 1647
Leigh disease with leukodystrophy
: code 255241
Leigh disease with myopathy
: code 70474
Leigh disease with nephroticsyndrome
: code 255249
Leigh necrotizing encephalopathy due to pyruvate carboxylasedeficiency
: code 3008
Leigh syndrome due to PCdeficiency
: code 3008
Leigh syndrome due to pyruvatecarboxylase deficiency
: code 3008
Leigh syndrome withcardiomyopathy
: code 70474
Leigh syndrome withleukodystrophy
: code 255241
Leigh syndrome with nephroticsyndrome
: code 255249
Leigh syndrome French-Canadiantype
: code 70472
Leigh syndrome Saguenay-Lac-Saint-Jean type
: code 70472
Leigh-like basal ganglia disease- optic atrophy-peripheralneuropathy syndrome
: code 485421
Leiner disease
: code 314
Leiomyomatosis peritonealisdisseminate
: code 71274
Leiomyosarcoma
: code 64720
Leiomyosarcoma of small intestine
: code 104076
Leiomyosarcoma of the cervix uteri
: code 213807
Leiomyosarcoma of the corpus uteri
: code 213625
Leishmaniasis
: code 507
Lelis syndrome
: code 140936
Lemierre postanginal sepsis
: code 137839
Lemierre syndrome
: code 137839
Lenk-Ploski syndrome
: code 497906
Lennox-Gastaut syndrome
: code 2382
Lens-induced endophthalmitis
: code 209959
Lens-induced iridocyclitis
: code 209959
Lens-induced uveitis
: code 209959
Lenz microphthalmia
: code 568
Lenz-Majewski hyperostoticdwarfism
: code 2658
LEOPARD syndrome
: code 500
Lepore-beta-thalassemia syndrome
: code 330032
Leprechaunism
: code 508
Leprosy
: code 548
Leptomeningeal melanomatosis
: code 252031
Leptomyelolipoma
: code 268838
Leptospirosis
: code 509
Leri pleonosteosis
: code 2900
Lri-Weill dyschondrosteosis
: code 240
Lri-Weill syndrome
: code 240
Lesch-Nyhan syndrome
: code 510
Lethal acantholytic epidermolysisbullosa
: code 158687
Lethal arteriopathy syndrome dueto fibulin-4 deficiency
: code 314718
Lethal arthrogryposis-anterior horncell disease syndrome
: code 53696
Lethal ataxia with deafness andoptic atrophy
: code 1187
Lethal congenital contracturesyndrome type 1
: code 1486
Lethal congenital contracturesyndrome type 2
: code 137776
Lethal congenital contracturesyndrome type 3
: code 137783
Lethal congenital contracturesyndrome type 5
: code 363409
Lethal encephalopathy due to mitochondrial and peroxisomalfission defect
: code 330050
Lethal faciocardiomelic dysplasia
: code 1972
Lethal fetal brain malformation- duodenal atresia-bilateral renalhypoplasia syndrome
: code 444069
Lethal fetalcerebrorenogenitourinary agenesis/hypoplasia syndrome
: code 439897
Lethal hemolytic anemia-genitalanomalies syndrome
: code 1046
Lethal hydranencephaly-diaphragmatic hernia syndrome
: code 480528
Lethal hydrocephalus-cardiac malformation-dense bonessyndrome
: code 1237
Lethal infantile mitochondrialdisease
: code 254857
Lethal infantile mitochondrialmyopathy
: code 254857
Lethal Kniest-like dysplasia
: code 2347
Lethal Larsen-like syndrome
: code 2371
Lethal left ventricular non- compaction-seizures-hypotonia- cataract-developmental delaysyndrome
: code 478049
Lethal midline granuloma
: code 86879
Lethal multiple pterygiumsyndrome
: code 33108
Lethal neonatal rigidity-multifocalseizure syndrome
: code 435845
Lethal neonatal spasticity-epilepticencephalopathy syndrome
: code 435845
Lethal neurodegenerative disorderdue to copper transport defect
: code 300313
Lethal occipital encephalocele-skeletal dysplasia syndrome
: code 293925
Lethal omphalocele-cleft palatesyndrome
: code 2736
Lethal osteogenesis imperfecta
: code 216804
Lethal osteosclerotic bone dysplasia
: code 1832
Lethal polymalformative syndrome Boissel type
: code 210144
Lethal popliteal pterygiumsyndrome
: code 1234
Lethal recessive chondrodysplasia
: code 1423
Lethal restrictive dermopathy
: code 1662
Lethal short-limb dwarfism McAlister-Crane type
: code 56304
Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasiasyndrome
: code 464366
Lethal variant of Simpson-Golabi-Behmel syndrome
: code 79022
Letterer-Siwe disease
: code 99870
Leukemic reticuloendotheliosis
: code 58017
Leukemic reticuloendotheliosisvariant
: code 300878
Leukocyte adhesion deficiency
: code 2968
Leukocyte adhesion deficiency typeI
: code 99842
Leukocyte adhesion deficiency typeII
: code 99843
Leukocyte adhesion deficiency typeIII
: code 99844
Leukocyte adhesion deficiency-1variant
: code 99844
Leukocyte chemotactic factor-2amyloidosis
: code 439224
Leukodystrophy due to alkalineceramidase 3 deficiency
: code 502444
Leukodystrophy with oligodontia
: code 77295
Leukoencephalopathy with bilateralanterior temporal lobe cysts
: code 139444
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
: code 137898
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
: code 137898
Leukoencephalopathy with mild cerebellar ataxia and white matteredema
: code 363540
Leukoencephalopathy with
: code 135
Leukoencephalopathy-dystonia-motor neuropathy syndrome
: code 163684
Leukoencephalopathy-metaphysealchondrodysplasia syndrome
: code 83629
Leukoencephalopathy- palmoplantar keratodermasyndrome
: code 2386
Leukoencephalopathy-thalamus and brainstem anomalies-highlactate syndrome
: code 314051
Leukomelanoderma-infantilism- intellectual disability-hypodontia-hypotrichosis syndrome
: code 1816
Leukonychia totalis
: code 2387
Leukonychia totalis-acanthosis- nigricans-like lesions-abnormal hairsyndrome
: code 210133
Leukonychia totalis-trichilemmalcysts-ciliary dystrophy syndrome
: code 2045
Leukotriene C4 synthase deficiency
: code 79507
Levic-Stefanovic-Nikolic syndrome
: code 2743
Levine-Critchley syndrome
: code 2388
Levo-transposition of the greatarteries
: code 216694
Levocardia
: code 95854
Levocardia-situs inversus
: code 95854
Levy-Hollister syndrome
: code 2363
Lewandowsky-Lutz syndrome
: code 302
Lewis-Pashayan syndrome
: code 1896
Lewis-Sumner syndrome
: code 48162
Leydig cell hypoplasia
: code 755
Leydig cell hypoplasia due tocomplete LH receptor inactivation
: code 96265
Leydig cell hypoplasia due tocomplete LH resistance
: code 96265
Leydig cell hypoplasia due to complete luteinizing hormonereceptor inactivation
: code 96265
Leydig cell hypoplasia due to complete luteinizing hormoneresistance
: code 96265
Leydig cell hypoplasia due to LHBdeficiency
: code 325448
Leydig cell hypoplasia due to luteinizing hormone subunit betadeficiency
: code 325448
Leydig cell hypoplasia due to partialLH receptor inactivation
: code 96266
Leydig cell hypoplasia due to partialLH resistance
: code 96266
Leydig cell hypoplasia due to partial luteinizing hormone receptorinactivation
: code 96266
Leydig cell hypoplasia due to partialluteinizing hormone resistance
: code 96266
LF
: code 99824
LGL syndrome
: code 844
LGMD1A
: code 266
LGMD1B
: code 264
LGMD1C
: code 265
LGMD1D
: code 34516
LGMD1E
: code 34517
LGMD1F
: code 55595
LGMD1G
: code 55596
LGMD1H
: code 238755
LGMD2A
: code 267
LGMD2B
: code 268
LGMD2C
: code 353
LGMD2D
: code 62
LGMD2E
: code 119
LGMD2F
: code 219
LGMD2G
: code 34514
LGMD2H
: code 1878
LGMD2I
: code 34515
LGMD2J
: code 140922
LGMD2K
: code 86812
LGMD2L
: code 206549
LGMD2M
: code 206554
LGMD2N
: code 206559
LGMD2O
: code 206564
LGMD2P
: code 280333
LGMD2Q
: code 254361
LGMD2R
: code 363543
LGMD2S
: code 369840
LGMD2T
: code 363623
LGMD2U
: code 352479
LGMD2W
: code 466801
LGMD2X
: code 476084
LGMD2Y
: code 424261
LGMD2Z
: code 480682
LGMD due to POMK deficiency
: code 445110
LHCDD
: code 93557
Lhermitte-Duclos disease
: code 65285
LHON
: code 104
LHON plus disease
: code 99718
LI
: code 313
Li-Fraumeni syndrome
: code 524
Lichen amyloidosis
: code 49804
Lichen amyloidosus
: code 49804
Lichen follicularis
: code 525
Lichen planopilaris
: code 525
Lichen planus actinus
: code 254395
Lichen planus follicularis
: code 525
Lichen planus pemphigoides
: code 254478
Lichen planus pigmentosa
: code 254463
Lichen planus pigmentosus
: code 254463
Lichen planus pigmentosus inversus
: code 254463
Lichen planus subtropicus
: code 254395
Lichen planus tropicus
: code 254395
Lichenoid melanodermatitis
: code 254395
Lichtenstein syndrome
: code 2390
Lichtenstein-Knorr syndrome
: code 448251
Liddle syndrome
: code 526
Liebenberg syndrome
: code 1275
LIG4 syndrome
: code 99812
Ligase 4 syndrome
: code 99812
Light and heavy chain depositiondisease
: code 93557
Light chain deposition disease
: code 93558
Light-chain amyloidosis
: code 85443
Ligneous conjunctivitis
: code 97231
Limb body wall complex
: code 2369
Limb transversal defect-cardiacanomaly syndrome
: code 2492
Limb scalp and skull defects
: code 974
Limb-girdle muscular dystrophy dueto alpha-sarcoglycan deficiency
: code 62
Limb-girdle muscular dystrophy dueto beta-sarcoglycan deficiency
: code 119
Limb-girdle muscular dystrophy dueto calpain deficiency
: code 267
Limb-girdle muscular dystrophy dueto caveolin-3 deficiency
: code 265
Limb-girdle muscular dystrophy dueto delta-sarcoglycan deficiency
: code 219
Limb-girdle muscular dystrophy dueto dysferlin deficiency
: code 268
Limb-girdle muscular dystrophy dueto FKRP deficiency
: code 34515
Limb-girdle muscular dystrophy dueto gamma-sarcoglycan deficiency
: code 353
Limb-girdle muscular dystrophy dueto lamin A/C deficiency
: code 264
Limb-girdle muscular dystrophy dueto myotilin deficiency
: code 266
Limb-girdle muscular dystrophy dueto POMK deficiency
: code 445110
Limb-girdle muscular dystrophy dueto telethonin deficiency
: code 34514
Limb-girdle muscular dystrophy dueto TRIM32 deficiency
: code 1878
Limb-girdle muscular dystrophywith epidermolysis bullosa simplex
: code 257
Limb-girdle muscular dystrophywith Paget disease of bone
: code 52430
Limb-girdle muscular dystrophy-intellectual disability syndrome
: code 86812
Limb-mammary syndrome
: code 69085
Limbal stem cell deficiency
: code 171673
Limbic encephalitis with caspr2antibodies
: code 276402
Limbic encephalitis with dipeptidyl-peptidase 6 antibodies
: code 329341
Limbic encephalitis with DPP6antibodies
: code 329341
Limbic encephalitis with DPPXantibodies
: code 329341
Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
: code 163908
Limbic encephalitis with LGI1antibodies
: code 163908
Limbic encephalitis with N-methyl-D-aspartate receptor antibodies
: code 217253
Limbic encephalitis with nCMAgsantibodies
: code 163914
Limbic encephalitis with neurexin-3antibodies
: code 498700
Limbic encephalitis with NMDAreceptor antibodies
: code 217253
Limbic encephalitis with novel cellmembrane antigen antibodies
: code 163914
Limbic encephalitis-neuromyotonia- hyperhidrosis-polyneuropathysyndrome
: code 83467
LIMD
: code 254857
Limit dextrinosis
: code 366
Limited cutaneous systemicscleroderma
: code 220402
Limited cutaneous systemicsclerosis
: code 220402
Limited systemic sclerosis
: code 220407
LIMM
: code 254857
LINCL
: code 168491
Lindau disease
: code 892
Lindsay-Burn syndrome
: code 3077
Linear and whorled nevoidhypermelanosis
: code 79150
Linear atrophoderma of Moulin
: code 140933
Linear focal dermal elastosis
: code 228236
Linear focal elastosis
: code 228236
Linear hamartoma syndrome
: code 2611
Linear IgA dermatosis
: code 46488
Linear lichen planus
: code 254379
Linear LP
: code 254379
Linear nevus sebaceus syndrome
: code 2612
Linear verrucous nevus syndrome
: code 2611
Linitis plastica of the stomach
: code 36273
Lip-pit syndrome
: code 888
LIPE-related familial partiallipodystrophy
: code 435660
LIPE-related FPLD
: code 435660
Lipedema
: code 77243
Lipoamide dehydrogenasedeficiency
: code 255182
Lipoatrophia semicircularis
: code 90160
Lipoatrophic diabetes
: code 528
Lipoatrophy caused by injecteddrug
: code 90157
Lipoatrophy with diabetes leukomelanodermic papules liver steatosis and hypertrophiccardiomyopathy
: code 156156
Lipoblastoma
: code 247762
Lipodystrophia centrifugalisabdominalis infantilis
: code 90156
Lipodystrophy due to peptidicgrowth factors deficiency
: code 1979
Lipodystrophy-intellectualdisability-deafness syndrome
: code 50811
Lipodystrophy-Rieger anomaly-diabetes syndrome
: code 3163
Lipoic acid synthetase deficiency
: code 401859
Lipoid dermatoarthritis
: code 139436
Lipoid proteinosis
: code 530
Lipomatosis dolorosa
: code 36397
Lipomatous mesenteritis
: code 238593
Lipomucopolysaccharidosis
: code 812
Lipomyelomeningocele
: code 268835
Lipoprotein glomerulopathy
: code 329481
Liposarcoma
: code 69078
Liposclerotic mesenteritis
: code 238593
Lipoyl transferase 1 deficiency
: code 401862
Lipoyl transferase 2 deficiency
: code 447795
Lisch epithelial corneal dystrophy
: code 98955
Lisker-Garcia-Ramos syndrome
: code 2400
Lison syndrome
: code 101003
Lissencephaly due to 17p13.3deletion
: code 531
Lissencephaly due to LIS1 mutation
: code 95232
Lissencephaly due to TUBA1Amutation
: code 171680
Lissencephaly syndrome Norman-Roberts type
: code 89844
Lissencephaly type 1 due todoublecortin gene mutation
: code 2148
Lissencephaly type 2 withoutmuscular or eye involvement
: code 352682
Lissencephaly type 2 withoutmuscular or ocular involvement
: code 352682
Lissencephaly type 3-familial fetalakinesia sequence syndrome
: code 86821
Lissencephaly type 3-metacarpalbone dysplasia syndrome
: code 86822
Lissencephaly with cerebellarhypoplasia type A
: code 100011
Lissencephaly with cerebellarhypoplasia type B
: code 100012
Lissencephaly with cerebellarhypoplasia type C
: code 100013
Lissencephaly with cerebellarhypoplasia type D
: code 100014
Lissencephaly with cerebellarhypoplasia type E
: code 100015
Lissencephaly with cerebellarhypoplasia type F
: code 100016
Listeria infection
: code 533
Listeriosis
: code 533
Livedo racemosa-cerebrovascularaccident syndrome
: code 820
Livedo reticularis-cerebrovascularaccident syndrome
: code 820
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
: code 79095
Liver glycogen phosphorylasedeficiency
: code 369
LKS
: code 98818
LMNA-related cardiocutaneousprogeria syndrome
: code 363618
LMNA-related congenital musculardystrophy
: code 157973
LMPS
: code 33108
LMS
: code 69085
Lobar holoprosencephaly
: code 93924
Lobstein disease
: code 666
Lobster-claw deformity
: code 2440
LOC syndrome
: code 2407
Localized AL amyloidosis
: code 314709
Localized Castleman disease
: code 93685
Localized deciduous skin
: code 263534
Localized epidermolysis bullosasimplex
: code 79400
Localized fibrosing scleroderma
: code 90289
Localized junctional epidermolysisbullosa non-Herlitz type
: code 251393
Localized lichen myxedematosus with mixed features of differentsubtypes
: code 90398
Localized lichen myxedematosus with monoclonal gammopathy orsystemic symptoms
: code 90399
Localized pagetoid reticulosis
: code 178517
Localized PSS
: code 263534
Localized pustular psoriasis
: code 163927
Localized scleroderma
: code 90289
Locked-in syndrome
: code 2406
Loeffler endocarditis
: code 75566
Loeys-Dietz syndrome
: code 60030
LOGIC syndrome
: code 2407
Logopenic primary progressiveaphasia
: code 250831
Logopenic progressive aphasia
: code 250831
Logopenic variant PPA
: code 250831
Loiasis
: code 2404
Long chain 3-hydroxyacyl-CoAdehydrogenase deficiency
: code 5
Long chain acyl-CoA dehydrogenasedeficiency
: code 99900
Long eyelashes-intellectual
: code 3363
Long QT interval-deafnesssyndrome
: code 90647
Long QT syndrome type 7
: code 37553
Long QT syndrome type 8
: code 65283
Long QT syndrome-syndactylysyndrome
: code 65283
Long-chain 3-hydroxyacyl- coenzyme A dehydrogenasedeficiency
: code 5
Longitudinal vaginal septum
: code 180157
Longman-Tolmie syndrome
: code 52054
Loose anagen syndrome
: code 168
LOPD
: code 411602
Lopes-Gorlin syndrome
: code 2832
Lopes-Marques de Faria syndrome
: code 2266
LORD
: code 67042
Loricrin keratoderma
: code 79395
Lou Gehrig disease
: code 803
Louis-Bar syndrome
: code 100
Low anorectal malformation
: code 171215
Low grade ependymoma
: code 251633
Low phospholipid associatedcholelithiasis
: code 69663
Low-flow priapism
: code 140949
Low-grade neuroendocrine tumorof the corpus uteri
: code 213736
Low-grade neuroendocrine tumorof the uterine corpus
: code 213736
Low-molecular-weight proteinuria with hypercalciuria andnephrocalcinosis
: code 1652
Lowe disease
: code 534
Lowe oculo-cerebro-renalsyndrome
: code 534
Lowe syndrome
: code 534
Lowe-Kohn-Cohen syndrome
: code 2408
Lower body hemangioma- urogenital anomalies-myelopathy- bony deformities-anorectal and arterial malformations-renalanomalies syndrome
: code 83628
Lower extremity-predominant autosomal dominant proximalspinal muscular atrophy
: code 363447
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy withcontractures
: code 363454
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy withoutcontractures
: code 209341
Lower limb hypertrophy
: code 295051
Lower limb malformation-hypospadias syndrome
: code 2487
Lower lip fistula
: code 141064
Lower motor neuron syndromewith late-adult onset
: code 276435
Lown-Ganong-Levine syndrome
: code 844
Lowry syndrome
: code 1533
Lowry-MacLean syndrome
: code 2409
Lowry-Wood syndrome
: code 1824
Lowry-Yong syndrome
: code 2003
LP pemphigoides
: code 254478
LP pigmentosa
: code 254463
LP pigmentosus
: code 254463
LPA
: code 250831
LPAC
: code 69663
LPD
: code 71274
LPG
: code 329481
LPI
: code 470
LPL deficiency
: code 309015
LPP
: code 163927
LPP
: code 525
LQT7
: code 37553
LQT8
: code 65283
LRP5-related primary osteoporosis
: code 498481
LTBL
: code 314051
LTC4 synthase deficiency
: code 79507
LTEC
: code 2004
LTEC0
: code 280205
LTEC1
: code 93938
LTEC2
: code 93939
LTEC3
: code 93940
LTEC4
: code 93941
LTEC I
: code 93938
LTEC II
: code 93939
LTEC III
: code 93940
LTEC IV
: code 93941
Lubag
: code 53351
Lubag syndrome
: code 53351
Lubani-Al Saleh-Teebi syndrome
: code 2575
Lubinsky syndrome
: code 2410
Lubs-Arena syndrome
: code 1762
Lucey-Driscoll syndrome
: code 2312
Lujan syndrome
: code 776
Lujan-Fryns syndrome
: code 776
Lujo hemorrhagic fever
: code 319213
LUMBAR syndrome
: code 83628
Lumbosacral spina bifida aperta
: code 268388
Lumbosacral spina bifida cystica
: code 268758
Lunatomalacia
: code 97332
Lundberg syndrome
: code 2928
Lung agenesis-heart defect-thumbanomalies syndrome
: code 1120
Lung fibrosis-immunodeficiency-46 XX gonadal dysgenesis syndrome
: code 137631
Lupus erythematosus panniculitis
: code 90285
Lupus erythematosus profundus
: code 90285
Lupus erythematosus tumidus
: code 90283
Luteal-phase-dependent febrileepisode
: code 498251
Luteal-phase-dependent periodicfever
: code 498251
Luteinizing hormone-releasinghormone deficiency with ataxia
: code 1173
Lutz-Lewandowskyepidermodysplasia verruciformis
: code 302
Lutz-Richner-Landolt syndrome
: code 2697
LVNC
: code 54260
LWNH
: code 79150
Lyell syndrome
: code 537
LYG
: code 86869
Lyme borreliosis
: code 91546
Lyme disease
: code 91546
Lymphangioleiomyomatosis
: code 538
Lymphatic filariasis
: code 2035
Lymphedema praecox
: code 90186
Lymphedema tarda
: code 90186
Lymphedema with yellow nails
: code 662
Lymphedema-atrial septal defects-facial changes syndrome
: code 86915
Lymphedema-cerebralarteriovenous anomaly syndrome
: code 86914
Lymphedema-distichiasis syndrome
: code 33001
Lymphedema-hypoparathyroidismsyndrome syndrome
: code 1563
Lymphedema-lymphangiectasia-intellectual disability syndrome
: code 2136
Lymphedema-posterior choanalatresia syndrome
: code 99141
Lymphedema-ptosis syndrome
: code 33001
Lymphoadenopathic mastocytosiswith eosinophilia
: code 158793
Lymphoblastoid variant of NK-celllymphoma
: code 86870
Lymphocytic hypereosinophilicsyndrome
: code 314970
Lymphocytic interstitial pneumonia
: code 79128
Lymphocytic variant HES
: code 314970
Lymphoepithelial-like carcinoma
: code 289682
Lymphogranulomatosis X
: code 86886
Lymphoid HES
: code 314970
Lymphoid interstitial pneumonia
: code 79128
Lymphomatoid granulomatosis
: code 86869
Lymphomatoid papulosis
: code 98842
Lymphomatous meningitis
: code 329998
Lymphoplasmacytic lymphomawithout IgM production
: code 443159
Lymphoplasmacytic lymphomawithout Immunoglobulin M production
: code 443159
Lymphoplasmacytic sclerosingpancreatitis
: code 280302
Lynch syndrome
: code 144
Lynch-Lee-Murday syndrome
: code 1123
Lyngstadaas syndrome
: code 3196
LyP
: code 98842
Lysine alpha-ketoglutaratereductase deficiency
: code 2203
Lysinuric protein intolerance
: code 470
Lysosomal acid lipase deficiency
: code 275761
Lysosomal acid phosphatasedeficiency
: code 35121
Lysosomal alpha-D-mannosidasedeficiency
: code 61
Lysosomal alpha-D-mannosidasedeficiency adult form
: code 309288
Lysosomal alpha-D-mannosidasedeficiency infantile form
: code 309282
Lysosomal glycogen storage diseasewith normal acid maltase activity
: code 34587
Lysosomal membrane cobalamintransporter deficiency
: code 79284
Lysozyme amyloidosis
: code 93561
Lytico-Bodig disease
: code 90020
M hemoglobinopathy
: code 330041
Mabry syndrome
: code 247262
MAC
: code 98938
Mac Duffie hypocomplementemicurticarial vasculitis
: code 36412
Mac Duffie syndrome
: code 36412
MacDermot-Patton-Williamssyndrome
: code 2220
MacDermot-Winter syndrome
: code 2083
Machado disease
: code 98757
Machado-Joseph disease
: code 98757
Machado-Joseph disease type 1
: code 276238
Machado-Joseph disease type 2
: code 276241
Machado-Joseph disease type 3
: code 276244
Machupo hemorrhagic fever
: code 319229
Macias Flores-Garcia Cruz-Riverasyndrome
: code 79495
Mackay-Shek-Carr syndrome
: code 1574
MACOM syndrome
: code 468672
Macroblepharon-ectropion- hypertelorism-macrostomiasyndrome
: code 357158
Macrocephalic sperm headsyndrome
: code 137893
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
: code 217335
Macrocephaly-capillarymalformation syndrome
: code 60040
Macrocephaly-cutis marmoratatelangiectatica congenita syndrome
: code 60040
Macrocephaly-developmental delaysyndrome
: code 397612
Macrocephaly-intellectual
: code 210548
Macrocephaly-intellectual disability-left ventricular noncompaction syndrome
: code 466791
Macrocephaly-intellectual disability-neurodevelopmentaldisorder-small thorax syndrome
: code 457485
Macrocephaly-obesity-mental disability-ocular abnormalitiessyndrome
: code 2563
Macrocephaly-short stature-paraplegia syndrome
: code 2427
Macrocephaly-spastic paraplegia-dysmorphism syndrome
: code 2429
Macrocystic lymphangioma
: code 79489
Macrocystic lymphaticmalformation
: code 79489
Macrodactyly of fingers
: code 295044
Macrodactyly of fingers bilateral
: code 295241
Macrodactyly of fingers unilateral
: code 295239
Macrodactyly of foot
: code 295047
Macrodactyly of foot bilateral
: code 295245
Macrodactyly of foot unilateral
: code 295243
Macrodactyly of hand
: code 295044
Macrodactyly of hand bilateral
: code 295241
Macrodactyly of hand unilateral
: code 295239
Macrodactyly of toes
: code 295047
Macrodactyly of toes bilateral
: code 295245
Macrodactyly of toes unilateral
: code 295243
Macroencephaly
: code 2477
Macrophage activation syndrome
: code 158061
Macrophagic myofasciitis
: code 592
Macrosomia-microphthalmia-cleftpalate syndrome
: code 2432
Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
: code 2563
Macrostomia
: code 141276
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
: code 83619
Macrothrombocytopenia withleukocyte inclusions
: code 182050
Macrothrombocytopenia withmitral valve insufficiency
: code 220448
Macrothrombocytopenia- lymphedema-developmental delay- facial dysmorphism-camptodactylysyndrome
: code 487796
MACS syndrome
: code 217335
Macular amyloidosis
: code 137814
Macular coloboma-cleft palate-hallux valgus syndrome
: code 91494
Macular corneal dystrophy
: code 98969
Maculopapular cutaneousmastocytosis
: code 79457
MAD
: code 2457
MAD deficiency
: code 26791
MAD deficiency mild type
: code 394532
MAD deficiency severe neonataltype
: code 394529
MADD
: code 26791
MADD mild type
: code 394532
MADD severe neonatal type
: code 394529
Madelung deformity
: code 35688
Madelung deformity bilateral
: code 295223
Madelung deformity unilateral
: code 295221
Madelung disease
: code 2398
Madras motor neuron disease
: code 137867
MADSAM
: code 48162
Madura foot
: code 2583
MAE
: code 1942
Maeda syndrome
: code 199354
Maffucci syndrome
: code 163634
MAGIC syndrome
: code 324972
Mahvash disease
: code 438274
Majeed syndrome
: code 77297
Majewski osteodysplasticprimordial dwarfism type II
: code 2637
Major histocompatibility complexclass II expression deficiency
: code 572
Major hyperlipidemia
: code 70470
Mal de dbarquement
: code 210272
Mal de Meleda
: code 87503
Malakoplakia
: code 556
Malan overgrowth syndrome
: code 420179
Malaria
: code 673
Malattia leventinese
: code 75376
Male EBP disorder withneurological defects
: code 401973
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomaliessyndrome
: code 2234
Male infertility due toglobozoospermia
: code 171709
Male infertility due to large-headed multiflagellar polyploidspermatozoa
: code 137893
Male infertility due tomacrozoospermia
: code 137893
Male infertility due to NANOS1mutation
: code 399808
Male infertility due to round-headed spermatozoa
: code 171709
Male infertility with azoospermia or oligozoospermia due to single genemutation
: code 399805
Male infertility with normalvirilization due to maturation arrest
: code 399805
Male infertility with normalvirilization due to meiosis defect
: code 399805
Male infertility with teratozoospermia due to single genemutation
: code 399808
Male pseudohermaphroditism dueto 5-alpha-reductase 2 deficiency
: code 753
Male pseudohermaphroditism due to 17-beta-hydroxysteroiddehydrogenase 3 deficiency
: code 752
Male pseudohermaphroditism dueto LH resistance or LHB deficiency
: code 755
Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunitdeficiency
: code 755
Male sterility due to chromosome Ydeletion
: code 1646
Male-limited precocious puberty
: code 3000
Maligant granulosa cell tumor ofthe ovary
: code 99915
Malignancy diagnosed duringpregnancy
: code 289385
Malignant angioendotheliomatosis
: code 98839
Malignant atrophic papulosis
: code 679
Malignant carcinoid syndrome
: code 100093
Malignant dysgerminomatous germcell tumor of the ovary
: code 99912
Malignant epithelial tumor ofsalivary glands
: code 276145
Malignant germ cell tumor of thecervix uteri
: code 213837
Malignant germ cell tumor of thecorpus uteri
: code 213751
Malignant germ cell tumor of thevagina
: code 206489
Malignant hyperthermia ofanesthesia
: code 423
Malignant hyperthermia-arthrogryposis-torticollis syndrome
: code 2215
Malignant melanoma of meninges
: code 252050
Malignant melanoma of themucosa
: code 168999
Malignant migrating partialepilepsy of infancy
: code 293181
Malignant migrating partial seizuresof infancy
: code 293181
Malignant mixed Mllerian tumorof the corpus uteri
: code 213610
Malignant mixed Mllerian tumorof the ovary
: code 213512
Malignant Mllerian mixed tumorof the cervix uteri
: code 213787
Malignant neurilemmoma
: code 3148
Malignant neurofibroma
: code 3148
Malignant non-dysgerminomatousgerm cell tumor of ovary
: code 206538
Malignant ovarian dysgerminoma
: code 99912
Malignant paroxysmal ventriculartachycardia
: code 3286
Malignant perineurioma
: code 252128
Malignant peripheral nerve sheathtumor
: code 3148
Malignant peripheral nerve sheath tumor with perineurialdifferentiation
: code 252128
Malignant peripheral nerve sheath tumor with rhabdomyosarcomatousdifferenciation
: code 252212
Malignant peripheral neuroectodermal tumor of thecervix uteri
: code 213812
Malignant peripheral neuroectodermal tumor of thecorpus uteri
: code 213630
Malignant peritoneal mesothelioma
: code 168811
Malignant pilomatricoma
: code 499182
Malignant rhabdoid tumor
: code 69077
Malignant schwannoma
: code 3148
Malignant Sertoli-Leydig cell tumorof the ovary
: code 99916
Malignant teratoma of ovary
: code 398987
Malignant thymoma
: code 99868
Malignant triton tumor
: code 252212
Malignant tubal tumor
: code 180242
Malignant tumor of fallopian tubes
: code 180242
Malonic aciduria
: code 943
Malonyl-CoA decarboxylasedeficiency
: code 943
Malouf syndrome
: code 2229
Malposition of the coronary ostium
: code 99090
Malpuech facial clefting syndrome
: code 293843
Malpuech syndrome
: code 293843
Malpuech-Michels-Mingarelli-Carnevale syndrome
: code 293843
MALS
: code 293208
MALT lymphoma
: code 52417
Maltase-glucoamylase deficiency
: code 103907
MALToma
: code 52417
Mammary Paget disease
: code 180275
Mammary polyadenomatosis
: code 50920
Mammary-digital-nail syndrome
: code 238744
MAN1B1-CDG
: code 397941
Man5GlcNAc2-PP-Dol flippasedeficiency
: code 244310
Mandibular arteriovenousmalformation
: code 141174
Mandibular hypoplasia-deafness-progeroid syndrome
: code 363649
Mandibular hypoplasia-hearingloss-progeroid syndrome
: code 363649
Mandibulfacial dysostosis withpostaxial limb anomalies
: code 246
Mandibulo-palpebral synkinesis-ptosis syndrome
: code 91412
Mandibuloacral dysplasia
: code 2457
Mandibuloacral dysplasia with typeA lipodystrophy
: code 90153
Mandibuloacral dysplasia with typeB lipodystrophy
: code 90154
Mandibulofacial dysostosis withalopecia
: code 443995
Mandibulofacial dysostosis withpreaxial limb anomalies
: code 245
Mandibulofacial dysostosis withoutlimb anomalies
: code 861
Mandibulofacial dysostosis Guion-Almeida type
: code 79113
Mandibulofacial dysostosis Toriellotype
: code 1131
Mandibulofacial dysostosis- macroblepharon-macrostomiasyndrome
: code 357158
Mandibulofacial dysostosis-microcephaly syndrome
: code 79113
Manganese intoxication
: code 306682
Manganese poisoning
: code 306682
Manganism
: code 306682
Manitoba oculotrichoanalsyndrome
: code 2717
Mannosyltransferase 1 deficiency
: code 79327
Mannosyltransferase 2 deficiency
: code 79326
Mannosyltransferase 6 deficiency
: code 79321
Mannosyltransferase 7-9 deficiency
: code 79328
Mannosyltransferase 8 deficiency
: code 79324
Mansonelliasis
: code 2459
Mansonellosis
: code 2459
Mantle cell lymphoma
: code 52416
Mantle zone lymphoma
: code 52416
Map-dot-fingerprint dystrophy
: code 98956
Maple syrup urine disease
: code 511
Marashi-Gorlin syndrome
: code 2712
Marble brain disease
: code 2785
Marburg acute multiple sclerosis
: code 228157
Marburg hemorrhagic fever
: code 99826
Marburg virus disease
: code 99826
MARCH syndrome
: code 500135
Marchiafava-Bignami disease
: code 221074
Marchiafava-Micheli disease
: code 447
Marcus-Gunn phenomenon
: code 91412
Marcus-Gunn syndrome
: code 91412
Marden-Walker syndrome
: code 2461
Marden-Walker-like syndrome
: code 2460
Mardini-Nyhan syndrome
: code 1120
Marfan syndrome
: code 558
Marfan syndrome type 1
: code 284963
Marfan syndrome type 2
: code 284973
Marfanoid craniosynostosis
: code 2462
Marfanoid habitus-autosomal recessive intellectual disabilitysyndrome
: code 2463
Marfanoid habitus-craniosynostosissyndrome
: code 60030
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
: code 314041
Marfanoid syndrome De Silva type
: code 2464
Margarita island ectodermaldysplasia
: code 3253
Marie Unna congenitalhypotrichosis
: code 444
Marie Unna hereditaryhypotrichosis
: code 444
Marin-Amat syndrome
: code 101104
Marinesco-Sjgren syndrome
: code 559
Marles syndrome
: code 2717
Marles-Greenberg-Persaudsyndrome
: code 2717
Maroteaux-Lamy disease
: code 583
Maroteaux-Le Merrer-Bensahelsyndrome
: code 2767
Maroteaux-Malamut syndrome
: code 950
Maroteaux-Stanescu-Cousinsyndrome
: code 1423
Maroteaux-Verloes-Stanescusyndrome
: code 1040
Marshall syndrome
: code 560
Marshall syndrome with periodicfever
: code 42642
Marshall-Smith syndrome
: code 561
Martin-Bell syndrome
: code 908
Martin-Probst syndrome
: code 85321
Martnez-Fras syndrome
: code 293864
Martinique crinkled retinal pigmentepitheliopathy
: code 466718
Martsolf syndrome
: code 1387
MASA syndrome
: code 2466
MASS syndrome
: code 284963
Mast cell sarcoma
: code 66661
Mast syndrome
: code 101001
Mastocytosis-short stature-hearingloss syndrome
: code 2135
MAT
: code 3282
MAT deficiency
: code 168598
MAT I/III deficiency
: code 168598
Maternal 14q32.2hypermethylation syndrome
: code 254534
Maternal 14q32.2 microdeletionsyndrome
: code 254528
Maternal anti-Kellalloimmunization
: code 275944
Maternal del(14)(q32.2)
: code 254528
Maternal hyperphenylalaninemia
: code 2209
Maternal hyperthermia inducedbirth defects
: code 2216
Maternal monosomy 14q32.2
: code 254528
Maternal phenylketonuria
: code 2209
Maternal PKU
: code 2209
Maternal riboflavin deficiency
: code 411712
Maternal uniparental disomy ofchromosome 1
: code 251009
Maternal uniparental disomy ofchromosome 2
: code 96179
Maternal uniparental disomy ofchromosome 4
: code 96180
Maternal uniparental disomy ofchromosome 6
: code 96181
Maternal uniparental disomy ofchromosome 9
: code 96183
Maternal uniparental disomy ofchromosome 13
: code 97678
Maternal uniparental disomy ofchromosome 14
: code 96184
Maternal uniparental disomy ofchromosome 16
: code 96185
Maternal uniparental disomy ofchromosome 20
: code 96186
Maternal uniparental disomy ofchromosome 21
: code 96187
Maternal uniparental disomy ofchromosome 22
: code 96188
Maternal uniparental disomy ofchromosome X
: code 261519
Maternal UPD(20)
: code 96186
Maternally-inheritedcardiomyopathy and deafness
: code 1349
Maternally-inheritedcardiomyopathy and hearing loss
: code 1349
Maternally-inherited chronic progressive externalophthalmoplegia
: code 663
Maternally-inherited CPEO
: code 663
Maternally-inherited diabetes anddeafness
: code 225
Maternally-inherited infantile subacute necrotizingencephalopathy
: code 255210
Maternally-inherited Leigh disease
: code 255210
Maternally-inherited Leighsyndrome
: code 255210
Maternally-inherited mitochondrialdystonia
: code 254851
Maternally-inherited progressiveexternal ophthalmoplegia
: code 663
Maternally-inherited spasticparaplegia
: code 320360
Maternally-inherited SPG
: code 320360
Mathieu-De Broca-Bony syndrome
: code 2015
MATR3-related distal myopathy
: code 600
Matthew-Wood syndrome
: code 2470
Maturity-onset diabetes of theyoung
: code 552
Maumenee corneal dystrophy
: code 293603
Maxillary arteriovenousmalformation
: code 141171
Maxillonasal dysostosis
: code 1248
Maxillonasal dysplasia
: code 1248
May-Hegglin anomaly
: code 182050
May-Hegglin syndrome
: code 182050
May-Hegglin thrombocytopenia
: code 182050
Mayer-Rokitansky-Kster-Hausersyndrome
: code 3109
Mayer-Rokitansky-Kster-Hausersyndrome type 1
: code 247775
Mayer-Rokitansky-Kster-Hausersyndrome type 2
: code 2578
Mazabraud syndrome
: code 57782
MBD
: code 221074
MBEN
: code 251858
MC
: code 91138
MC4R deficiency
: code 71529
MC type II
: code 93554
MC type III
: code 93555
MCA due to 14q32.2 maternallyexpressed gene defect
: code 254519
MCAD deficiency
: code 42
MCADD
: code 42
MCAHS type 2
: code 300496
MCAHS type 3
: code 369837
McAlister-Crane syndrome
: code 56304
MCAP
: code 60040
McArdle disease
: code 368
MCC
: code 79140
MCC deficiency
: code 6
McCabe disease
: code 85195
MCCD
: code 6
McCune-Albright syndrome
: code 562
MCD
: code 93686
MCD
: code 98969
MCDK
: code 1851
McDonough syndrome
: code 2471
McDowall syndrome
: code 357225
MCDR1
: code 75327
MCDR2
: code 319640
MCDU
: code 1035
McDuffie hypocomplementemicurticarial vasculitis
: code 36412
McDuffie syndrome
: code 36412
MCEDS
: code 2953
MCEE deficiency
: code 308425
McGrath syndrome
: code 158668
MCKD
: code 34149
MCKD1
: code 88949
MCKD2
: code 88950
McKusick-Kaufman syndrome
: code 2473
MCL
: code 52416
McLeod neuroacanthocytosissyndrome
: code 59306
MCM
: code 60040
MCMTC
: code 60040
MCOPS3
: code 77298
MCOPS4
: code 85275
MCOPS5
: code 178364
MCOPS6
: code 139471
MCOPS7
: code 2556
MCOPS8
: code 3434
MCOPS9
: code 2470
MCOPS10
: code 77299
MCPH
: code 2512
McPherson-Clemens syndrome
: code 2001
McPherson-Hall syndrome
: code 2999
MCRCC
: code 319287
MCRPE
: code 466718
MCT8 deficiency
: code 59
MCTD
: code 809
MCUL
: code 523
MD
: code 565
MD1
: code 273
MDC1A
: code 258
MDC1B
: code 98893
MDC1C
: code 370953
MDC1D
: code 370953
MdD
: code 210272
MdDS
: code 210272
MDK
: code 1836
MDN syndrome
: code 238744
MDP syndrome
: code 363649
Meacham syndrome
: code 3097
Meacham-Winn-Culler syndrome
: code 3097
MEAK
: code 435438
MEB disease with bilateralmulticystic leucodystrophy
: code 370997
MEB syndrome
: code 588
MECD
: code 98954
Meckel syndrome
: code 564
Meckel syndrome type 7
: code 3032
Meckel-Gruber syndrome
: code 564
Meckel-like syndrome type 1
: code 3032
Meconium aspiration syndrome
: code 70588
Meconium ileus due to guanylatecyclase 2C deficiency
: code 314376
MECP2 duplication syndrome
: code 1762
MED1
: code 93308
MED4
: code 93307
MED5
: code 93311
Med-DLBCL
: code 98838
MEDAC syndrome
: code 3453
Medeira-Dennis-Donnai syndrome
: code 2476
Medial condensing osteitis of theclavicle
: code 57196
Median arcuate ligament syndrome
: code 293208
Median cleft lip/mandibule
: code 2006
Median cleft lower facial stage
: code 2006
Median cleft of the upper lip andmaxilla
: code 141239
Median cleft of the upper lip-corpus callosum lipoma-cutaneous polypssyndrome
: code 1993
Median nodule of the upper lip
: code 2699
Mediastinal diffuse large-celllymphoma with sclerosis
: code 98838
Mediastinal fibrosis
: code 63999
Medich giant platelet syndrome
: code 370127
Medich macrothrombocytopenia
: code 370127
Medina worm disease
: code 231
Medinensis
: code 231
Mediterranean anemia
: code 231214
Mediterranean lymphoma
: code 100025
Mediterraneanmacrothrombocytopenia
: code 2882
Mediterranean spotted fever
: code 83313
Medium chain acyl-CoAdehydrogenase deficiency
: code 42
Medium chain acyl-coenzyme Adehydrogenase deficiency
: code 42
MEDNIK syndrome
: code 171851
Medullary cystic kidney diseasetype 1
: code 88949
Medullary plasmacytoma
: code 29073
Medullary sponge kidney
: code 1309
Medullary thyroid carcinoma
: code 1332
Medulloblastoma
: code 616
Medulloblastoma with extensivenodularity
: code 251858
Medulloepithelioma of the centralnervous system
: code 251883
Meesmann corneal dystrophy
: code 98954
Mega-cisterna magna
: code 97252
Megacolon-microcephaly syndrome
: code 66629
Megaconial congenital musculardystrophy
: code 280671
Megacystis-megaureter syndrome
: code 238637
Megacystis-microcolon-intestinalhypoperistalsis syndrome
: code 2241
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosissyndrome
: code 2241
Megaduodenum and/or megacystis
: code 2604
Megakaryoblastic acute myeloidleukemia with t(1;22)(p13;q13)
: code 402023
Megakaryoblastic AML witht(1;22)(p13;q13)
: code 402023
Megalencephalic leukodystrophy
: code 2478
Megalencephalic leukoencephalopathy withsubcortical cysts
: code 2478
Megalencephaly
: code 2477
Megalencephaly-capillarymalformation syndrome
: code 60040
Megalencephaly-capillary malformation-polymicrogyriasyndrome
: code 60040
Megalencephaly-cutis marmoratatelangiectatica congenita syndrome
: code 60040
Megalencephaly-cysticleukodystrophy syndrome
: code 2478
Megalencephaly-polymicrogyria- postaxial polydactyly-hydrocephalussyndrome
: code 83473
Megalencephaly-severe kyphoscoliosis-overgrowthsyndrome
: code 457359
Megalocornea-intellectual disabilitysyndrome
: code 2479
Megalocornea-spherophakia-secondary glaucoma syndrome
: code 238763
Mgarban-Loiselet syndrome
: code 50815
Megaureter-megacystis syndrome
: code 238637
MEGDEL syndrome
: code 352328
Mehes syndrome
: code 3038
MEHMO syndrome
: code 85282
Meier-Blumberg-Imahornsyndrome
: code 2196
Meier-Gorlin syndrome
: code 2554
Meige disease
: code 90186
Meige dystonia
: code 93964
Meige lymphedema
: code 90186
Meige syndrome
: code 93964
Meige-like disease
: code 90186
Meigs syndrome
: code 314451
Melanesian elliptocytosis
: code 98868
Melanesian ovalocytosis
: code 98868
Melanoma and neural systemtumor syndrome
: code 252206
Melanoma of soft tissue
: code 97338
Melanoma-astrocytoma syndrome
: code 252206
Melanoma-pancreatic cancersyndrome
: code 404560
Melanosis diffusa congenita
: code 79146
Melanosis universalis hereditaria
: code 79146
MELAS
: code 550
Meleda disease
: code 87503
Melhem-Fahl syndrome
: code 2482
Melioidosis
: code 31202
Melkersson-Rosenthal syndrome
: code 2483
Melnick-Needles osteodysplasty
: code 2484
Melnick-Needles syndrome
: code 2484
Melorheostosis
: code 2485
Melorheostosis with osteopoikilosis
: code 1879
Membranoproliferativeglomerulonephritis type 2
: code 93571
MEN1
: code 652
MEN2
: code 653
MEN2A
: code 247698
MEN2B
: code 247709
MEN4
: code 276152
MEND syndrome
: code 401973
Mendelian susceptibility to interleukin 12 receptor beta 1deficiency
: code 319552
Mendelian susceptibility to mycobacterial diseases due tocomplete IFNgammaR1 deficiency
: code 99898
Mendelian susceptibility to mycobacterial diseases due tocomplete IFNgammaR2 deficiency
: code 319547
Mendelian susceptibility to mycobacterial diseases due tocomplete IL12B deficiency
: code 319558
Mendelian susceptibility to mycobacterial diseases due tocomplete IL12RB1 deficiency
: code 319552
Mendelian susceptibility to mycobacterial diseases due to complete interferon gammareceptor 1 deficiency
: code 99898
Mendelian susceptibility to mycobacterial diseases due to complete interferon gammareceptor 2 deficiency
: code 319547
Mendelian susceptibility to mycobacterial diseases due tocomplete interleukin 12B deficiency
: code 319558
Mendelian susceptibility to mycobacterial diseases due tocomplete ISG15 deficiency
: code 319563
Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8deficiency
: code 319600
Mendelian susceptibility to mycobacterial diseases due topartial IRF8 deficiency
: code 319600
Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1deficiency
: code 319595
Mendelian susceptibility to mycobacterial diseases due topartial STAT1 deficiency
: code 319595
Mntrier disease
: code 2494
Mengel-Konigsmark syndrome
: code 3216
Meningeal melanocytoma
: code 252046
Meningioma
: code 2495
Meningocele
: code 823
Meningococcal meningitis
: code 33475
Menkes disease
: code 565
Menkes syndrome
: code 565
Menstrual cycle-dependent febrileepisode
: code 498251
Menstrual cycle-dependentperiodic fever
: code 498251
Mental retardation-truncal obesity- retinal dystrophy-micropenissyndrome
: code 75858
MEPAN syndrome
: code 508093
Mercurialism
: code 330021
Mercury intoxication
: code 330021
Mercury poisoning
: code 330021
Merkel cell carcinoma
: code 79140
Merosin-negative congenitalmuscular dystrophy
: code 258
MERRF
: code 551
Mesangiocapillaryglomerulonephritis
: code 54370
Mesenchymal hamartoma of liver
: code 386
Mesenteric lipogranuloma
: code 238593
Mesenteric panniculitis
: code 238593
Mesial temporal lobe epilepsy withhippocampal sclerosis
: code 99701
Mesoaxial polydactyly
: code 295004
Mesoaxial synostotic syndactylywith phalangeal reduction
: code 157801
Mesocardia
: code 95443
Mesodermic dysplasia
: code 289
Mesomelia-synostoses syndrome
: code 2496
Mesomelia-synostoses syndrome Verloes-David-Pfeiffer type
: code 2496
Mesomelic dwarfism Langer type
: code 2632
Mesomelic dwarfism Nievergelttype
: code 2633
Mesomelic dwarfism Reinhardt-Pfeiffer type
: code 2634
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
: code 2631
Mesomelic dwarfism-small genitaliasyndrome
: code 97360
Mesomelic dysplasia with absentfibulas and triangular tibias
: code 85170
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffertype
: code 2496
Mesomelic dysplasia Kantaputratype
: code 1836
Mesomelic dysplasia Kozlowski-Reardon type
: code 2631
Mesomelic dysplasia Nievergelt
: code 2633
Mesomelic dysplasia Reardon type
: code 2631
Mesomelic dysplasia Savarirayantype
: code 85170
Mesomelic dysplasia Thai type
: code 1836
Metabolic myopathy due to lactatetransporter defect
: code 171690
Metachondromatosis
: code 2499
Metachromatic leukodystrophy
: code 512
Metachromatic leukodystrophy adult form
: code 309271
Metachromatic leukodystrophy juvenile form
: code 309263
Metachromatic leukodystrophy late infantile form
: code 309256
Metaphyseal acroscyphodysplasia
: code 1240
Metaphyseal anadysplasia
: code 1040
Metaphyseal chondrodysplasia Jansen type
: code 33067
Metaphyseal chondrodysplasia Kaitila type
: code 166038
Metaphyseal chondrodysplasia McKusick type
: code 175
Metaphyseal chondrodysplasia Schmid type
: code 174
Metaphyseal chondrodysplasia Spahr type
: code 2501
Metaphyseal chondromatosis withD-2-hydroxyglutaric aciduria
: code 99646
Metaphyseal dysostosis-intellectual disability-conductive deafnesssyndrome
: code 2502
Metaphyseal dysplasia withouthypotrichosis
: code 175
Metaphyseal dysplasia Braun-Tinschert type
: code 85188
Metaphyseal dysplasia Pyle type
: code 3005
Metaphyseal dysplasia-maxillaryhypoplasia-brachydacty syndrome
: code 2504
Metaplastic carcinoma of thebreast
: code 213531
Metatropic dwarfism
: code 2635
Metatropic dysplasia
: code 2635
Methacrylic aciduria
: code 88639
Methanol poisoning
: code 31825
Methimazole embryofetopathy
: code 1923
Methimazole/carbimazoleembryofetopathy
: code 1923
Methimazole/carbimazoleembryopathy
: code 1923
Methionine adenosyltransferasedeficiency
: code 168598
Methotrexate-associatedlymphoproliferative disorders
: code 86904
Methyl mercury antenatal infection
: code 1917
Methylcobalamin deficiency
: code 622
Methylcobalamin deficiency typecblDv1
: code 308380
Methylcobalamin deficiency typecblE
: code 2169
Methylcobalamin deficiency typecblG
: code 2170
Methylene tetrahydrofolatereductase deficiency
: code 395
Methylmalonic acidemia due to methylmalonyl-CoA epimerasedeficiency
: code 308425
Methylmalonic acidemia due to methylmalonyl-CoA racemasedeficiency
: code 308425
Methylmalonic acidemia withhomocystinuria
: code 26
Methylmalonic acidemia withhomocystinuria type cblF
: code 79284
Methylmalonic acidemia withhomocystinuria type cblC
: code 79282
Methylmalonic acidemia withhomocystinuria type cblD
: code 79283
Methylmalonic acidemia withhomocystinuria type cblJ
: code 369955
Methylmalonic acidemia withhomocystinuria type cblX
: code 369962
Methylmalonic acidemia TCb1Rtype
: code 280183
Methylmalonic acidemia TCbIRtype
: code 280183
Methylmalonic aciduria due to methylmalonyl-CoA epimerasedeficiency
: code 308425
Methylmalonic aciduria due to methylmalonyl-CoA racemasedeficiency
: code 308425
Methylmalonic aciduria due totranscobalamin receptor defect
: code 280183
Methylmalonic aciduria withhomocystinuria
: code 26
Methylmalonic aciduria withhomocystinuria type cblC
: code 79282
Methylmalonic aciduria withhomocystinuria type cblD
: code 79283
Methylmalonic aciduria withhomocystinuria type cblF
: code 79284
Methylmalonic aciduria withhomocystinuria type cblJ
: code 369955
Methylmalonic aciduria withhomocystinuria type cblX
: code 369962
Methylmalonyl-CoA mutasedeficiency
: code 27
Methylmalonyl-Coenzyme Amutase deficiency
: code 27
Metopic ridging-ptosis-facial
: code 502430
Mevalonic aciduria
: code 29
Meyer-Schwickerath syndrome
: code 2710
MFDA
: code 443995
MFDM syndrome
: code 79113
MFS
: code 558
MFS1
: code 284963
MFS2
: code 284973
MGA1
: code 67046
MGA2
: code 111
MGA3
: code 67047
MGA4
: code 67048
MGA5
: code 66634
MGA7
: code 445038
MGA8
: code 505208
MGA9
: code 505216
MGAT2-CDG
: code 79329
MHA
: code 182050
MHAC
: code 443162
MHBD deficiency
: code 391417
MHBD deficiency classic type
: code 391428
MHBD deficiency infantile type
: code 391428
MHBD deficiency neonatal type
: code 391457
MHC class II expression deficiency
: code 572
MHF
: code 99826
MHL
: code 386
mHPA
: code 79651
MIC-CAP syndrome
: code 294016
MIC-CM syndrome
: code 294016
Michels syndrome
: code 293843
MICPCH
: code 163937
Micro syndrome
: code 2510
Microbrachycephaly-ptosis-cleft lipsyndrome
: code 2511
Microcephalia vera
: code 2512
Microcephalic osteodysplasticdysplasia Saul-Wilson type
: code 85172
Microcephalic osteodysplasticprimordial dwarfism type II
: code 2637
Microcephalic osteodysplasticprimordial dwarfism types I and III
: code 2636
Microcephalic osteodysplastic primordial dwarfism Taybi-Lindertype
: code 2636
Microcephalic primordial dwarfismdue to RTTN deficiency
: code 468631
Microcephalic primordial dwarfismdue to ZNF335 deficiency
: code 329228
Microcephalic primordial dwarfism Alazami type
: code 319671
Microcephalic primordial dwarfism Dauber type
: code 319675
Microcephalic primordial dwarfism Montreal type
: code 2617
Microcephalic primordial dwarfism Toriello type
: code 2643
Microcephalic primordial dwarfism Walsh type
: code 329228
Microcephalic primordial dwarfism-insulin resistance syndrome
: code 436182
Microcephaly and chromosomalinstability without immunodeficiency
: code 240760
Microcephaly vera
: code 2512
Microcephaly-albinism-digitalanomalies syndrome
: code 2513
Microcephaly-brachydactyly-kyphoscoliosis syndrome
: code 3433
Microcephaly-brain defect-spasticity-hypernatremia syndrome
: code 2523
Microcephaly-capillarymalformation syndrome
: code 294016
Microcephaly-cardiac defect-lungmalsegmentation syndrome
: code 2516
Microcephaly-cardiomyopathysyndrome
: code 2515
Microcephaly-cerebellar hypoplasia-cardiac conductiondefect syndrome
: code 329332
Microcephaly-cerebellar hypoplasia-congenital heartconduction defect syndrome
: code 329332
Microcephaly-cerebral malformation-orofaciodigitalsyndrome
: code 434179
Microcephaly-cervical spine fusionanomalies syndrome
: code 2522
Microcephaly-cleft palate-abnormalretinal pigmentation syndrome
: code 2521
Microcephaly-complex motor and sensory axonal neuropathysyndrome
: code 423894
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
: code 488168
Microcephaly-corpus callosum agenesis-abnormal genitaliasyndrome
: code 2508
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disabilitysyndrom
: code 500159
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
: code 457284
Microcephaly-cutaneous capillarymalformation syndrome
: code 294016
Microcephaly-deafness-intellectualdisability syndrome
: code 2533
Microcephaly-digital anomalies-intellectual disability syndrome
: code 313795
Microcephaly-digital anomalies-normal intelligence syndrome
: code 1305
Microcephaly-digital anomalies-normal intelligence syndrome type 1
: code 391641
Microcephaly-digital anomalies-normal intelligence syndrome type 2
: code 391646
Microcephaly-facio-cardio-skeletalsyndrome Hadziselimovic type
: code 217026
Microcephaly-faciocardioskeletalsyndrome
: code 217026
Microcephaly-glomerulonephritis-marfanoid habitus syndrome
: code 2172
Microcephaly-hiatus hernia-nephrotic syndrome
: code 2065
Microcephaly-hypergonadotropic hypogonadism-short staturesyndrome
: code 2558
Microcephaly- hypogammaglobulinemia-abnormalimmunity syndrome
: code 3132
Microcephaly-immunodeficiency-lymphoreticuloma syndrome
: code 647
Microcephaly-intellectual disability- phalangeal and neurologicalanomalies syndrome
: code 3255
Microcephaly-intellectual disability- sensorineural deafness-epilepsy-abnormal muscle tone syndrome
: code 457351
Microcephaly-intellectual disability- sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
: code 457351
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome
: code 1305
Microcephaly-intellectual disability- tracheoesophageal fistula syndrometype 1
: code 391641
Microcephaly-intellectual disability- tracheoesophageal fistula syndrometype 2
: code 391646
Microcephaly-intracranial calcification-intellectual disabilitysyndrome
: code 1229
Microcephaly-lymphedema-chorioretinopathy syndrome
: code 2526
Microcephaly-microcorneasyndrome Seemanova type
: code 2528
Microcephaly-microphthalmia- ectrodactyly of lower limbs-prognathism syndrome
: code 3434
Microcephaly-oculo-digito- esophageal-duodenal syndromesyndrome
: code 1305
Microcephaly-oculo-digito- esophageal-duodenal syndromesyndrome type 1
: code 391641
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
: code 171703
Microcephaly-seizures-intellectualdisability-heart disease syndrome
: code 2519
Microcephaly-short stature- intellectual disability-facialdysmorphism syndrome
: code 423306
Microcephaly-thin corpus callosum-intellectual disability syndrome
: code 397951
Microcoria-congenital nephrosissyndrome
: code 2670
Microcornea-corectopia-macularhypoplasia syndrome
: code 2535
Microcornea-glaucoma-absentfrontal sinuses syndrome
: code 2536
Microcornea-myopic chorioretinalatrophy-telecanthus syndrome
: code 369970
Microcornea-posterior megalolenticonus-persistent fetalvasculature-coloboma syndrome
: code 231736
Microcornea-rod-cone dystrophy- cataract-posterior staphylomasyndrome
: code 263347
Microcystic infiltrating lymphaticmalformation
: code 79490
Microcystic lymphangioma
: code 79490
Microcystic lymphaticmalformation
: code 79490
Microcytic anemia with liver ironoverload
: code 83642
Microdeletion 9q22.3
: code 77301
Microdeletion 22q11.2
: code 567
Microdontia-type I microtia-deafness syndrome
: code 90024
Microduplication 17p12
: code 101081
Microduplication Xp11.22-p11.23syndrome
: code 217377
Microform holoprosencephaly
: code 280200
Microform HPE
: code 280200
Microgastria-limb reduction defectsyndrome
: code 2538
Micrognathia digital syndrome
: code 1388
Micrognathia-recurrent infections- behavioral abnormalities-mildintellectual disability syndrome
: code 476126
Microlissencephaly
: code 1083
Microlissencephaly type A
: code 89844
Microlissencephaly-micromeliasyndrome
: code 50810
Micromelic dysplasia-dislocation ofradius syndrome
: code 93329
Microphthalmia with brain anddigit anomalies
: code 139471
Microphthalmia with colobomatouscyst
: code 98938
Microphthalmia with facial clefting
: code 1104
Microphthalmia with limbanomalies
: code 1106
Microphthalmia with linear skindefects syndrome
: code 2556
Microphthalmia Lenz type
: code 568
Microphthalmia-ankyloblepharon-intellectual disability syndrome
: code 85275
Microphthalmia-anophthalmia-coloboma syndrome
: code 98938
Microphthalmia-brain atrophysyndrome
: code 77299
Microphthalmia-coloboma-rhizomelic skeletal dysplasia
: code 424099
Microphthalmia-dermal aplasia-sclerocornea syndrome
: code 2556
Microphthalmia-intellectualdisability syndrome
: code 2510
Microphthalmia-microtia-fetalakinesia syndrome
: code 2547
Microphthalmia-optic nerve aplasiasyndrome
: code 2705
Microphthalmia-retinitis pigmentosa-foveoschisis-optic discdrusen syndrome
: code 251279
Micropolyangiitis
: code 727
Microscopic polyangiitis
: code 727
Microscopic polyarteritis
: code 727
Microspherophakia-metaphysealdysplasia syndrome
: code 2551
Microsporidiosis
: code 2552
Microtia
: code 83463
Microtia-aortic arch syndrome
: code 2306
Microtia-eye coloboma- imperforation of the nasolacrimalduct syndrome
: code 139450
Microtriplication 11q24.1
: code 289522
Microvillous inclusion disease
: code 2290
Microvillus inclusion disease
: code 2290
Micturation-induced seizures
: code 166430
Mid-aortic dysplastic syndrome
: code 1456
Mid-aortic syndrome
: code 1456
Mid-dermal elastolysis
: code 228299
Midaortic syndrome
: code 1456
MIDAS syndrome
: code 2556
MIDD
: code 225
Middle aortic syndrome
: code 1456
Middle ear neuroendocrine tumor
: code 100084
Middle interhemispheric fusionvariant
: code 93926
Middle interhemispheric variant ofholoprosencephaly
: code 93926
Midline cervical cleft
: code 141288
Midline heart
: code 95443
Midline interhemispheric variant ofholoprosencephaly
: code 93926
Mietens syndrome
: code 2557
Mievis-Verellen-Dumoulin
: code 2867
Migrating partial epilepsy of infancy
: code 293181
Migrating partial seizures of infancy
: code 293181
Migratory myiasis
: code 504
MIH
: code 93926
MIH type HPE
: code 93926
MIHF
: code 93926
MIHV
: code 93926
Mikati-Najjar-Sahli syndrome
: code 2558
Mikulicz disease
: code 79078
Mild Canavan disease
: code 314918
Mild factor IX deficiency
: code 169799
Mild factor VIII deficiency
: code 169808
Mild hemophilia A
: code 169808
Mild hemophilia B
: code 169799
Mild HPA
: code 79651
Mild hyperphenylalaninemia
: code 79651
Mild nemaline myopathy
: code 171439
Mild osteogenesis imperfecta
: code 216796
Mild peroxismal disorder due toPEX10 deficiency
: code 247815
Mild phenylketonuria
: code 79253
Mild phosphoribosylpyrophosphatesynthetase superactivity
: code 411536
Mild PKU
: code 79253
Mild PRPP synthetase superactivity
: code 411536
Mild PRPS1 superactivity
: code 411536
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
: code 93279
Miller syndrome
: code 246
Miller-Dieker syndrome
: code 531
Miller-Fisher syndrome
: code 98919
Mills syndrome
: code 94091
Milroy disease
: code 79452
Milroy-like disease
: code 79452
MILS
: code 255210
Minamata disease
: code 1917
MINDS syndrome
: code 457485
MiNEN of pancreas
: code 506112
Mineralocorticoid resistanthyperkalemia
: code 757
Mingarelli syndrome
: code 293843
Minimal pigment oculocutaneousalbinism type 1
: code 352734
Minimally differentiated acutemyeloblastic leukemia
: code 98832
Minkowski-Chauffard disease
: code 822
Minoxidil antenatal infection
: code 1918
MIRAGE syndrome
: code 494433
MIRAS
: code 94125
Mirhosseini-Holmes-Waltonsyndrome
: code 193
Mirror hands and feets-nasal
: code 2378
Mirror polydactyly-vertebral segmentation-limbs defectssyndrome
: code 3004
Mirror-image polydactyly
: code 498494
MiT family translocation renal cellcarcinoma
: code 319308
MITF-related melanoma and renal cell carcinoma predispositionsyndrome
: code 293822
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
: code 134
Mitochondrial aspartate-glutamatecarrier 1 deficiency
: code 353217
Mitochondrial diabetes
: code 225
Mitochondrial DNA deletion syndrome with limb-girdleweakness
: code 352470
Mitochondrial DNA deletion syndrome with progressivemyopathy
: code 352470
Mitochondrial DNA depletion syndrome encephalomyopathicform with methylmalonic aciduria
: code 1933
Mitochondrial DNA depletion syndrome encephalomyopathicform with renal tubulopathy
: code 255235
Mitochondrial DNA depletion syndrome encephalomyopathic form with variable craniofacialanomalies
: code 369897
Mitochondrial DNA depletion syndrome hepatocerebral form dueto DGUOK deficiency
: code 279934
Mitochondrial DNA depletionsyndrome hepatocerebrorenal form
: code 363534
Mitochondrial DNA depletionsyndrome myopathic form
: code 254875
Mitochondrial DNA maintenancesyndrome due to MGME1 deficiency
: code 352447
Mitochondrial encephalo-cardio- myopathy due to F1Fo ATPasedeficiency
: code 1194
Mitochondrial encephalo-cardio- myopathy due to isolated ATPsynthase deficiency
: code 1194
Mitochondrial encephalo-cardio- myopathy due to isolated mitochondrial respiratory chaincomplex V deficiency
: code 1194
Mitochondrial encephalomyopathy due to combined oxidativephosphorylation defect 6
: code 238329
Mitochondrial encephalomyopathydue to COXPD6
: code 238329
Mitochondrial encephalomyopathy lactic acidosis and stroke-like
: code 550
Mitochondrial encephalomyopathy-aminoacidopathy syndrome
: code 1933
Mitochondrial enoyl CoA reductase protein-associatedneurodegeneration syndrome
: code 508093
Mitochondrial HSP60chaperonopathy
: code 280288
Mitochondrial hypertrophic cardiomyopathy with lactic acidosisdue to MTO1 deficiency
: code 314637
Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycosideexposure
: code 168609
Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycosideexposure
: code 168609
Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycosideexposure
: code 168609
Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycosideexposure
: code 168609
Mitochondrial membrane protein-associated neurodegeneration
: code 289560
Mitochondrial myopathy andsideroblastic anemia
: code 2598
Mitochondrial myopathy withreversible complex IV deficiency
: code 254864
Mitochondrial myopathy withreversible COX deficiency
: code 254864
Mitochondrial myopathy with reversible cytochrome C oxidasedeficiency
: code 254864
Mitochondrial myopathy encephalopathy lactic acidosis andstroke-like episodes
: code 550
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathysyndrome
: code 502423
Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathysyndrome
: code 502423
Mitochondrial myopathy-lacticacidosis-deafness syndrome
: code 2597
Mitochondrial myopathy-lacticacidosis-hearing loss syndrome
: code 2597
Mitochondrial neurogastrointestinalencephalomyopathy
: code 298
Mitochondrial non-syndromicneurosensory deafness
: code 90641
Mitochondrial non-syndromic
: code 168609
Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycosideexposure
: code 168609
Mitochondrial non-syndromicsensorineural deafness
: code 90641
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycosideexposure
: code 168609
Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycosideexposure
: code 168609
Mitochondrial pyruvate carrierdeficiency
: code 447784
Mitochondrial spinocerebellarataxia with epilepsy
: code 254881
Mitochondrial trifunctional proteindeficiency
: code 746
Mitral atresia
: code 1205
Mitral regurgitation-deafness-skeletal anomalies syndrome
: code 3238
Mitral valve agenesis
: code 99062
Mitral valve-aorta-skeleton-skinsyndrome
: code 284963
Mitten hand
: code 295012
Mixed AIHA
: code 90036
Mixed connective tissue disease
: code 809
Mixed cryoglobulinemia
: code 91138
Mixed cryoglobulinemia type III
: code 93555
Mixed cystic lymphangioma
: code 458792
Mixed cystic lymphaticmalformation
: code 458792
Mixed germ cell tumor
: code 180234
Mixed germ cell tumor of centralnervous system
: code 252021
Mixed germ cell tumor of CNS
: code 252021
Mixed Mllerian cancer of corpusuteri
: code 213610
Mixed neuroendocrine- nonneuroendocrine neoplasm ofpancreas
: code 506112
Mixed oligoastrocytoma
: code 251656
Mixed renal tubular acidosis
: code 2785
Mixed RTA
: code 2785
Mixed sclerosing bone dystrophy
: code 1879
Mixed sclerosing bone dystrophywith extra-skeletal manifestations
: code 324364
Mixed-type autoimmune hemolyticanemia
: code 90036
Miyoshi muscular dystrophy type 3
: code 399096
Miyoshi myopathy
: code 45448
MJD
: code 98757
MK
: code 565
ML 3 alpha/beta
: code 423461
ML 3 gamma
: code 423470
ML III alpha/beta
: code 423461
ML III gamma
: code 423470
MLASA
: code 2598
MLC
: code 2478
MLCRD
: code 2526
MLD
: code 512
MLD adult form
: code 309271
MLD juvenile form
: code 309263
MLD late infantile form
: code 309256
MLS
: code 59306
MLS syndrome
: code 2556
MLT
: code 464321
MMCAT syndrome
: code 369970
MmD
: code 598
MMD3
: code 399096
MME-related autosomal dominantCharcot Marie Tooth disease type 2
: code 497757
MME-related autosomal dominantCMT2
: code 497757
MME-related autosomal dominant hereditary motor and sensoryneuropathy type 2
: code 497757
MMEP syndrome
: code 3434
MMF
: code 592
MMF embryopathy
: code 268249
MMI/CMZ embryofetopathy
: code 1923
MMI/CMZ embryopathy
: code 1923
MMIHS
: code 2241
MMMT of the ovary
: code 213512
MMN
: code 641
MMNCB
: code 641
MMND
: code 137867
MMPEI
: code 293181
MMPSI
: code 293181
MMR syndrome
: code 2479
MMT
: code 1305
MMT type 1
: code 391641
MMT type 2
: code 391646
MNGIE
: code 298
MNK
: code 565
MOA
: code 251656
MOBA syndrome
: code 77299
Mbius syndrome
: code 570
MOCOD
: code 99732
MOCOD type A
: code 308386
MOCOD type B
: code 308393
MOCOD type C
: code 308400
MODED syndrome
: code 1305
MODED syndrome type 1
: code 391641
Moderate and severe traumatic
: code 90056
Moderate multiminicore diseasewith hand involvement
: code 178145
Moderately severe factor IXdeficiency
: code 169796
Moderately severe factor VIIIdeficiency
: code 169805
Moderately severe hemophilia A
: code 169805
Moderately severe hemophilia B
: code 169796
Moderately-differentiated thymicneuroendocrine carcinoma
: code 263335
MODY
: code 552
MODY5
: code 93111
Moebius syndrome
: code 570
Moebius syndrome-axonal neuropathy-hypogonadotropichypogonadism syndrome
: code 2560
Moersch-Woltman syndrome
: code 3198
Moeschler-Clarren syndrome
: code 2549
MOGS-CDG
: code 79330
Mohr syndrome
: code 2751
Mohr-Majewski syndrome
: code 2753
Mohr-Tranebjaerg syndrome
: code 52368
Molar pregnancy
: code 99927
Moloney syndrome
: code 1433
MOMES syndrome
: code 397973
MOMO syndrome
: code 2563
MONA spectrum
: code 371428
Monilethrix
: code 573
Moniliform hair syndrome
: code 573
Monkey disease
: code 319254
Monkey fever
: code 319254
Monoamine oxidase A deficiency
: code 3057
Monocarboxylate transporter 8deficiency
: code 59
Monocyte-B-natural killer-dendriticcell deficiency syndrome
: code 228423
Monocytopenia and mycobacterialinfection syndrome
: code 228423
Monocytopenia with susceptibilityto infections
: code 228423
Monogenic diabetes of infancy
: code 99885
MonoMAC
: code 228423
Monomelic amyotrophy
: code 65684
Monomorphic NK-cell lymphoma
: code 86870
Mononen-Karnes-Senac syndrome
: code 2565
Mononeuritis multiplex withbrachial predilection
: code 2901
Monosomy 1p21.3
: code 293948
Monosomy 1p31p32
: code 401986
Monosomy 1p35.2
: code 456298
Monosomy 1p36
: code 1606
Monosomy 1pter
: code 1606
Monosomy 1q21.1
: code 250989
Monosomy 1q41-q42
: code 250999
Monosomy 1q41q42
: code 250999
Monosomy 1q44
: code 238769
Monosomy 1qter
: code 36367
Monosomy 2p15-p16.1
: code 261349
Monosomy 2p15p16.1
: code 261349
Monosomy 2p21
: code 163693
Monosomy 2q23.1
: code 228402
Monosomy 2q24
: code 1617
Monosomy 2q31.1
: code 251014
Monosomy 2q32
: code 251019
Monosomy 2q32-q33
: code 251019
Monosomy 2q32q33
: code 251019
Monosomy 2q33.1
: code 251028
Monosomy 2q37-qter
: code 1001
Monosomy 3p25.3
: code 435638
Monosomy 3pter
: code 1620
Monosomy 3q13
: code 1621
Monosomy 3q26-q27
: code 356947
Monosomy 3q26q27
: code 356947
Monosomy 3q29
: code 65286
Monosomy 3qter
: code 65286
Monosomy 4q21
: code 238750
Monosomy 4qter
: code 96145
Monosomy 5p
: code 281
Monosomy 5q14.3
: code 228384
Monosomy 5q31.3
: code 314655
Monosomy 5q35
: code 1627
Monosomy 6p22
: code 251046
Monosomy 6p25
: code 96125
Monosomy 6q16
: code 171829
Monosomy 6q25
: code 251056
Monosomy 7pter
: code 96126
Monosomy 7q11.23
: code 904
Monosomy 7q31
: code 251061
Monosomy 7qter
: code 1636
Monosomy 8p11.2
: code 251066
Monosomy 8p23.1
: code 251071
Monosomy 8q13
: code 2496
Monosomy 8q21.11
: code 284160
Monosomy 8q22.1
: code 178303
Monosomy 8q24.1
: code 502
Monosomy 8q24.3
: code 508488
Monosomy 9p
: code 261112
Monosomy 9p13
: code 324313
Monosomy 9pter
: code 1642
Monosomy 9q22.3
: code 77301
Monosomy 9q31.1q31.3
: code 401923
Monosomy 9q33.3-q34.11
: code 495818
Monosomy 9q33.3q34.11
: code 495818
Monosomy 10p11.21p12.31
: code 284169
Monosomy 10pter
: code 1580
Monosomy 10q22.3q23.3
: code 276413
Monosomy 10qter
: code 96148
Monosomy 11p13
: code 893
Monosomy 11q22.2-q22.3
: code 444002
Monosomy 11q22.2q22.3
: code 444002
Monosomy 11qter
: code 2308
Monosomy 12p12.1
: code 313884
Monosomy 12q14
: code 94063
Monosomy 12q15q21.1
: code 289513
Monosomy 12qter
: code 96149
Monosomy 13q12.3
: code 412035
Monosomy 13q14
: code 1587
Monosomy 13q32
: code 1590
Monosomy 13q34
: code 96168
Monosomy 14q11.2
: code 261120
Monosomy 14q12
: code 261144
Monosomy 14q22
: code 3157
Monosomy 14q22-q23
: code 264200
Monosomy 14q22q23
: code 264200
Monosomy 14q24.1q24.3
: code 401935
Monosomy 15q11.2
: code 261183
Monosomy 15q13.3
: code 199318
Monosomy 15q14
: code 261190
Monosomy 15q24
: code 94065
Monosomy 15q26
: code 1596
Monosomy 16p11.2-p12.2
: code 261211
Monosomy 16p11.2p12.2
: code 261211
Monosomy 16p13.11
: code 261236
Monosomy 16p13.2
: code 500055
Monosomy 16q24.1
: code 352629
Monosomy 16q24.3
: code 261250
Monosomy 17p13.3
: code 531
Monosomy 17q11
: code 97685
Monosomy 17q12
: code 261265
Monosomy 17q21.31
: code 363958
Monosomy 17q23.1-q23.2
: code 261279
Monosomy 17q23.1q23.2
: code 261279
Monosomy 17qter
: code 1597
Monosomy 18p
: code 1598
Monosomy 18q
: code 1600
Monosomy 19p13.12
: code 254346
Monosomy 19p13.13
: code 357001
Monosomy 19q13.11
: code 217346
Monosomy 20p12.3
: code 261295
Monosomy 20p13
: code 313781
Monosomy 20q11
: code 444051
Monosomy 20q13.33
: code 261311
Monosomy 20qter
: code 96152
Monosomy 21
: code 574
Monosomy 21q22.11-q22.12
: code 261323
Monosomy 21q22.11q22.12
: code 261323
Monosomy 21q22.13-q22.2
: code 268261
Monosomy 21q22.13q22.2
: code 268261
Monosomy 22
: code 96123
Monosomy 22q11
: code 567
Monosomy 22q13
: code 48652
Monosomy X
: code 99226
Monostotic fibrous dysplasia
: code 93277
Montgomery syndrome
: code 158003
Moore-Federman syndrome
: code 969
MOPD type II
: code 2637
MOPD types I and III
: code 2636
Moran-Barroso syndrome
: code 141327
Morava-Mehes syndrome
: code 52056
Morgagni-Stewart-Morel syndrome
: code 77296
MORM syndrome
: code 75858
Morning glory syndrome
: code 35737
Morquio disease
: code 582
Morquio disease type A
: code 309297
Morquio disease type B
: code 309310
Morse-Rawnsley-Sargent syndrome
: code 2570
Morvan syndrome
: code 83467
Morvan’s fibrillary chorea
: code 83467
Mosaic genome-wide paternaluniparental disomy
: code 329813
Mosaic genome-wide paternal UPD
: code 329813
Mosaic monosomy X
: code 99228
Mosaic paternal uniparentaldisomy of chromosome 11
: code 96193
Mosaic trisomy 1
: code 1692
Mosaic trisomy 2
: code 1723
Mosaic trisomy 3
: code 100071
Mosaic trisomy 4
: code 96059
Mosaic trisomy 5
: code 96060
Mosaic trisomy 7
: code 1747
Mosaic trisomy 8
: code 96061
Mosaic trisomy 9
: code 99776
Mosaic trisomy 10
: code 96063
Mosaic trisomy 12
: code 1698
Mosaic trisomy 14
: code 1703
Mosaic trisomy 15
: code 1706
Mosaic trisomy 16
: code 1708
Mosaic trisomy 17
: code 1711
Mosaic trisomy 20
: code 1724
Mosaic trisomy 22
: code 96068
Mosaic trisomy chromosome 1
: code 1692
Mosaic trisomy chromosome 2
: code 1723
Mosaic trisomy chromosome 3
: code 100071
Mosaic trisomy chromosome 4
: code 96059
Mosaic trisomy chromosome 5
: code 96060
Mosaic trisomy chromosome 7
: code 1747
Mosaic trisomy chromosome 8
: code 96061
Mosaic trisomy chromosome 9
: code 99776
Mosaic trisomy chromosome 10
: code 96063
Mosaic trisomy chromosome 12
: code 1698
Mosaic trisomy chromosome 14
: code 1703
Mosaic trisomy chromosome 15
: code 1706
Mosaic trisomy chromosome 16
: code 1708
Mosaic trisomy chromosome 17
: code 1711
Mosaic trisomy chromosome 20
: code 1724
Mosaic trisomy chromosome 22
: code 96068
Mosaic variegated aneuploidysyndrome
: code 1052
Moschcowitz disease
: code 54057
MOTA syndrome
: code 2717
Mother-to-child transmission ofcytomegalovirus syndrome
: code 294
Mother-to-child transmission ofenterovirus infection
: code 292
Mother-to-child transmission ofEpstein-Barr virus infection
: code 70596
Mother-to-child transmission ofherpes simplex virus infection
: code 293
Mother-to-child transmission ofparvovirus syndrome
: code 295
Mother-to-child transmission ofrubella syndrome
: code 290
Mother-to-child transmission ofsyphilis
: code 499009
Mother-to-child transmission oftoxoplasmosis
: code 858
Mother-to-child transmission ofvaricella syndrome
: code 291
Motor developmental delay due to 14q32.2 paternally expressed genedefect
: code 254516
Mounier-Khn syndrome
: code 3347
Mountain fever
: code 83595
Mountain tick fever
: code 83595
Mousa-Al Din-Al Nassar syndrome
: code 2572
Mouth and genital ulcers withinflamed cartilage
: code 324972
Mowat-Wilson syndrome
: code 2152
Mowat-Wilson syndrome due to2q22 microdeletion
: code 261537
Mowat-Wilson syndrome due to aZEB2 point mutation
: code 261552
Mowat-Wilson syndrome due todel(2)q(22)
: code 261537
Mowat-Wilson syndrome due tomonosomy 2q22
: code 261537
Moyamoya angiopathy-short stature-facial dysmorphism- hypergonadotropic hypogonadismsyndrome
: code 280679
Moyamoya disease
: code 2573
Moyamoya disease with early-onset achalasia
: code 401945
Moyamoya disease-short stature- facial dysmorphism-hypergonadotropic hypogonadism
: code 280679
Moynahan syndrome
: code 2574
MP OCA type 1
: code 352734
MPA
: code 727
MPAN
: code 289560
MPD1
: code 59135
MPD3
: code 399086
MPDU1-CDG
: code 79323
MPEI
: code 293181
MPGN
: code 54370
MPI-CDG
: code 79319
mPKU
: code 79253
MPNST
: code 3148
MPNST with rhabdomyosarcomatousdifferentiation
: code 252212
MPO deficiency
: code 2587
MPPC syndrome
: code 231736
MPPH syndrome
: code 83473
MPS1
: code 579
MPS1H
: code 93473
MPS1H/S
: code 93476
MPS1S
: code 93474
MPS2
: code 580
MPS2A
: code 217085
MPS2B
: code 217093
MPS3
: code 581
MPS3A
: code 79269
MPS3B
: code 79270
MPS3C
: code 79271
MPS3D
: code 79272
MPS4
: code 582
MPS4A
: code 309297
MPS4B
: code 309310
MPS6
: code 583
MPS6 rapidly progressing
: code 276212
MPS6 slowly progressing
: code 276223
MPS7
: code 584
MPS9
: code 67041
MPSI
: code 579
MPSI
: code 293181
MPSIH
: code 93473
MPSIH/S
: code 93476
MPSII
: code 580
MPSIIA
: code 217085
MPSIIB
: code 217093
MPSIII
: code 581
MPSIIIA
: code 79269
MPSIIIB
: code 79270
MPSIIIC
: code 79271
MPSIIID
: code 79272
MPSIS
: code 93474
MPSIV
: code 582
MPSIVA
: code 309297
MPSIVB
: code 309310
MPSIX
: code 67041
MPSVI
: code 583
MPSVI rapidly progressing
: code 276212
MPSVI slowly progressing
: code 276223
MPSVII
: code 584
MRCLS
: code 99967
MRCS syndrome
: code 263347
MRGH
: code 67045
MRKH syndrome
: code 3109
MRKH syndrome type 1
: code 247775
MRKH syndrome type 2
: code 2578
MRX35
: code 457240
MRXS7
: code 85274
MRXS9
: code 85324
MRXSH
: code 93952
MSA
: code 2598
MSA
: code 102
MSA cerebellar type
: code 227510
MSA parkinsonian type
: code 98933
MSA-c
: code 227510
MSA-p
: code 98933
MSBD syndrome
: code 1879
MSCAE
: code 254881
MSD
: code 585
Mseleni joint disease
: code 2619
MSH3-related AFAP
: code 480536
MSH3-related attenuated familialadenomatous polyposis
: code 480536
MSH3-related attenuated familialpolyposis coli
: code 480536
MSH3-related attenuated FAP
: code 480536
MSK
: code 1309
MSMD due to completeIFNgammaR1 deficiency
: code 99898
MSMD due to completeIFNgammaR2 deficiency
: code 319547
MSMD due to complete IL12Bdeficiency
: code 319558
MSMD due to complete IL12RB1deficiency
: code 319552
MSMD due to complete interferongamma receptor 1 deficiency
: code 99898
MSMD due to complete interferongamma receptor 2 deficiency
: code 319547
MSMD due to complete interleukin12 receptor beta 1 deficiency
: code 319552
MSMD due to complete interleukin12B deficiency
: code 319558
MSMD due to complete ISG15deficiency
: code 319563
MSMD due to partial interferonregulatory factor 8 deficiency
: code 319600
MSMD due to partial IRF8deficiency
: code 319600
MSMD due to partial signal transducer and activator oftranscription 1 deficiency
: code 319595
MSMD due to partial STAT1
: code 319595
MSN-related combinedimmunodeficiency
: code 504530
MSSD
: code 157801
MSSE
: code 65748
MSUD
: code 511
MTC
: code 1332
MTCT of syphilis
: code 499009
mtDNA deletion syndrome withlimb-girdle weakness
: code 352470
mtDNA deletion syndrome withprogressive myopathy
: code 352470
mtDNA depletion syndrome encephalomyopathic form withmethylmalonic aciduria
: code 1933
mtDNA depletion syndrome encephalomyopathic form withrenal tubulopathy
: code 255235
mtDNA depletion syndrome encephalomyopathic form withvariable craniofacial anomalies
: code 369897
mtDNA depletion syndrome hepatocerebrorenal form
: code 363534
mtDNA depletion syndrome myopathic form
: code 254875
mtDNA maintenance syndrome dueto MGME1 deficiency
: code 352447
MTHFR deficiency
: code 395
MTLE-HS
: code 99701
MTT
: code 252212
MTX-associatedlymphoproliferative disorders
: code 86904
MTX-LPD
: code 86904
mu-HCD
: code 100024
Mu-heavy chain disease
: code 100024
MUC1-related autosomal dominantmedullary cystic kidney disease
: code 88949
MUC1-related autosomal dominanttubulointerstitial kidney disease
: code 88949
MUCI-related ADTKD
: code 88949
Mucinous adenocarcinoma of ovary
: code 398961
Mucinous adenocarcinoma of theappendix
: code 391723
Mucinous cystadenocarcinoma ofthe pancreas
: code 424053
Mucinous cystadenoma of ovary inchildhood
: code 206470
Mucinous tubular and spindle cellrenal carcinoma
: code 319322
Muckle-Wells syndrome
: code 575
Mucocutaneous lymph nodesyndrome
: code 2331
Mucocutaneous venousmalformations
: code 2451
Mucolipidosis type 3 alpha/beta
: code 423461
Mucolipidosis type 3 gamma
: code 423470
Mucolipidosis type II
: code 576
Mucolipidosis type II alpha/beta
: code 576
Mucolipidosis type III
: code 577
Mucolipidosis type III alpha/beta
: code 423461
Mucolipidosis type III gamma
: code 423470
Mucolipidosis type IV
: code 578
Mucopolysaccharidosis type 1
: code 579
Mucopolysaccharidosis type 1H
: code 93473
Mucopolysaccharidosis type 1H/S
: code 93476
Mucopolysaccharidosis type 1S
: code 93474
Mucopolysaccharidosis type 2
: code 580
Mucopolysaccharidosis type 2 attenuated form
: code 217093
Mucopolysaccharidosis type 2 severe form
: code 217085
Mucopolysaccharidosis type 2A
: code 217085
Mucopolysaccharidosis type 2B
: code 217093
Mucopolysaccharidosis type 3
: code 581
Mucopolysaccharidosis type 3A
: code 79269
Mucopolysaccharidosis type 3B
: code 79270
Mucopolysaccharidosis type 3C
: code 79271
Mucopolysaccharidosis type 3D
: code 79272
Mucopolysaccharidosis type 4
: code 582
Mucopolysaccharidosis type 4A
: code 309297
Mucopolysaccharidosis type 4B
: code 309310
Mucopolysaccharidosis type 6
: code 583
Mucopolysaccharidosis type 6 rapidly progressing
: code 276212
Mucopolysaccharidosis type 6 slowly progressing
: code 276223
Mucopolysaccharidosis type 7
: code 584
Mucopolysaccharidosis type 9
: code 67041
Mucopolysaccharidosis type I
: code 579
Mucopolysaccharidosis type IH
: code 93473
Mucopolysaccharidosis type IH/S
: code 93476
Mucopolysaccharidosis type II
: code 580
Mucopolysaccharidosis type II attenuated form
: code 217093
Mucopolysaccharidosis type II severe form
: code 217085
Mucopolysaccharidosis type IIA
: code 217085
Mucopolysaccharidosis type IIB
: code 217093
Mucopolysaccharidosis type III
: code 581
Mucopolysaccharidosis type IIIA
: code 79269
Mucopolysaccharidosis type IIIB
: code 79270
Mucopolysaccharidosis type IIIC
: code 79271
Mucopolysaccharidosis type IIID
: code 79272
Mucopolysaccharidosis type IS
: code 93474
Mucopolysaccharidosis type IV
: code 582
Mucopolysaccharidosis type IVA
: code 309297
Mucopolysaccharidosis type IVB
: code 309310
Mucopolysaccharidosis type IX
: code 67041
Mucopolysaccharidosis type VI
: code 583
Mucopolysaccharidosis type VI rapidly progressing
: code 276212
Mucopolysaccharidosis type VI slowly progressing
: code 276223
Mucopolysaccharidosis type VII
: code 584
Mucopolysaccharidosis-like plusdisease
: code 505248
Mucopolysaccharidosis-like syndrome with congenital heartdefects and hematopoietic disorders
: code 505248
Mucormycosis
: code 73263
Mucosa-associated lymphatic tissuelymphoma
: code 52417
Mucosa-associated lymphoid tissuelymphoma
: code 52417
Mucosal pemphigoid
: code 46486
Mucosulfatidosis
: code 585
Mucosynechial pemphigoid
: code 46486
Mucous membrane pemphigoid
: code 46486
Mucoviscidosis
: code 586
Muenke syndrome
: code 53271
MUHH
: code 444
Muir-Torre syndrome
: code 587
MULIBREY dwarfism
: code 2576
MULIBREY nanism
: code 2576
Mllerian aplasia andhyperandrogenism
: code 247768
Mllerian derivatives- lymphangiectasia-polydactylysyndrome
: code 1655
Mllerian duct anomalies-limbanomalies syndrome
: code 2491
Mllerian duct aplasia-renal dysplasia-cervical somite anomaliessyndrome
: code 2578
Mllerian duct failure andhyperandrogenism
: code 247768
Multicentric carpo-tarsal osteolysiswith or without nephropathy
: code 2774
Multicentric Castleman disease
: code 93686
Multicentric giant lymph nodehyperplasia
: code 93686
Multicentric osteolysis-nodulosis-arthropathy spectrum
: code 371428
Multicentric osteolysis-nodulosis-arthropathy syndrome
: code 85196
Multicentric reticulohistiocytosis
: code 139436
Multicystic dysplastic kidney
: code 1851
Multicystic mesothelioma
: code 168816
Multicystic renal dysplasia
: code 1851
Multifocal acquired demyelinatingsensory and motor neuropathy
: code 48162
Multifocal atrial tachycardia
: code 3282
Multifocal eosinophilic granuloma
: code 99873
Multifocal
: code 464321
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
: code 464321
Multifocal motor neuropathy
: code 641
Multifocal motor neuropathy withconduction block
: code 641
Multifocal muscular fibrosis-obstructed vessels syndrome
: code 2033
Multifocal pattern dystrophysimulating fundus flavimaculatus
: code 99003
Multifocal pattern dystrophysimulating Stargardt disease
: code 99003
Multifocal ventricular prematurebeats
: code 3286
Multilocular clear celladenocarcinoma
: code 319287
Multilocular clear cell carcinoma
: code 319287
Multilocular clear cell renal celladenocarcinoma
: code 319287
Multilocular clear cell renal cellcarcinoma
: code 319287
Multilocular cyst of the kidney
: code 97366
Multilocular cystic renal celladenocarcinoma
: code 319287
Multilocular cystic renal cellcarcinoma
: code 319287
Multilocular cystic renal neoplasmof low malignant potential
: code 319287
Multilocular peritoneal inclusioncyst
: code 168816
Multilocular renal cyst
: code 97366
Multiloculated renal cyst
: code 97366
Multiminicore disease
: code 598
Multiminicore myopathy
: code 598
Multinodular goiter-cystic kidney-polydactyly syndrome
: code 2091
Multinucleated neurons- anhydramnios-renal dysplasia- cerebellar hypoplasia-hydranencephaly syndrome
: code 500135
Multiple acyl-CoA dehydrogenasedeficiency
: code 26791
Multiple acyl-CoA dehydrogenasedeficiency mild type
: code 394532
Multiple acyl-CoA dehydrogenasedeficiency severe neonatal type
: code 394529
Multiple benign circumferentialskin creases on limbs
: code 2505
Multiple caf-au-lait spots
: code 2678
Multiple caf-au-lait syndrome
: code 2678
Multiple cartilaginous exostoses
: code 321
Multiple congenital anomalies due to 14q32.2 maternally expressedgene defect
: code 254519
Multiple congenital anomalies-hypotonia-seizures syndrome
: code 280633
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
: code 300496
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
: code 369837
Multiple contracture syndrome Finnish type
: code 1486
Multiple contracture syndrome Israeli-Bedouin type
: code 137776
Multiple cutaneous and uterineleiomyomas
: code 523
Multiple endocrine deficiency- Addison disease-candidiasissyndrome
: code 3453
Multiple endocrine neoplasia type 1
: code 652
Multiple endocrine neoplasia type 2
: code 653
Multiple endocrine neoplasia type2A
: code 247698
Multiple endocrine neoplasia type2B
: code 247709
Multiple endocrine neoplasia type 3
: code 247709
Multiple endocrine neoplasia type 4
: code 276152
Multiple epiphyseal dysplasia dueto collagen 9 anomaly
: code 166002
Multiple epiphyseal dysplasia type1
: code 93308
Multiple epiphyseal dysplasia type4
: code 93307
Multiple epiphyseal dysplasia type5
: code 93311
Multiple epiphyseal dysplasia withRobin phenotype
: code 166016
Multiple epiphyseal dysplasia Al-Gazali type
: code 166024
Multiple epiphyseal dysplasia Beighton type
: code 166011
Multiple epiphyseal dysplasia Lowry type
: code 166016
Multiple epiphyseal dysplasia withminiepiphyses
: code 166032
Multiple epiphyseal dysplasia withsevere proximal femoral dysplasia
: code 166029
Multiple epiphyseal dysplasia- macrocephaly-distinctive faciessyndrome
: code 166024
Multiple epiphyseal dysplasia-myopia-deafness syndrome
: code 166011
Multiple fibroadenoma of thebreast
: code 50920
Multiple glomus tumors
: code 83454
Multiple hamartoma syndrome
: code 201
Multiple intestinal atresia
: code 2300
Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
: code 284139
multiple joint dislocations-short stature-hyperlaxity-craniofacialdysmorphism syndrome
: code 294049
Multiple keratoacanthoma
: code 493
Multiple keratoacanthoma Ferguson-Smith type
: code 65748
Multiple keratoacanthoma Muir-Torre type
: code 587
Multiple mastocytoma
: code 79455
Multiple mitochondrialdysfunctions syndrome type 1
: code 401869
Multiple mitochondrialdysfunctions syndrome type 2
: code 401874
Multiple mitochondrialdysfunctions syndrome type 3
: code 363424
Multiple mitochondrialdysfunctions syndrome type 4
: code 457406
Multiple myeloma
: code 29073
Multiple non-ossifying fibromatosis
: code 636
Multiple ossifying fibroma
: code 435329
Multiple osteochondromas
: code 321
Multiple paragangliomas associatedwith erythrocytosis
: code 324299
Multiple paragangliomas associatedwith polycythemia
: code 324299
Multiple pituitary hormonedeficiencies genetic forms
: code 95494
Multiple pterygium syndrome Aslan type
: code 1234
Multiple pterygium-malignanthyperthermia syndrome
: code 2215
Multiple sclerosis-ichthyosis-factorVIII deficiency syndrome
: code 3151
Multiple self-healing squamousepithelioma
: code 65748
Multiple sulfatase deficiency
: code 585
Multiple symmetric lipomatosis
: code 2398
Multiple synostoses syndrome
: code 3237
Multiple system atrophy
: code 102
Multiple system atrophy cerebellartype
: code 227510
Multiple system atrophy parkinsonian type
: code 98933
Multisystem atrophy
: code 102
Multisystemic smooth muscledysfunction syndrome
: code 404463
Mulvihill-Smith syndrome
: code 2959
MURCS association
: code 2578
Murine typhus
: code 83315
Murray-Puretic-Drescher syndrome
: code 2028
Muscle enolase deficiency
: code 99849
Muscle filaminopathy
: code 171445
Muscle phosphoglycerate mutasedeficiency
: code 97234
Muscle-eye-brain disease
: code 588
Muscle-eye-brain disease withbilateral multicystic leucodystrophy
: code 370997
Muscle-eye-brain syndrome
: code 588
Muscle-liver-brain-eye nanism
: code 2576
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitussyndrome
: code 2579
Muscular dystrophy with progressive weakness distalcontractures and rigid spine
: code 424261
Muscular dystrophy Selcen type
: code 199340
Muscular dystrophy-white matterspongiosis syndrome
: code 1877
Muscular enolase deficiency
: code 99849
Muscular hypertrophy- hepatomegaly-polyhydramniossyndrome
: code 324416
Muscular pseudohypertrophy-hypothyroidism syndrome
: code 2349
Musculocontractural Ehlers-Danlossyndrome
: code 2953
Mutchinick syndrome
: code 3079
Mutilating keratoderma ofVohwinkel
: code 494
Mutilating keratoderma plusdeafness
: code 494
Mutilating palmoplantar hyperkeratosis with periorificialkeratotic plaques
: code 659
Mutilating palmoplantar keratoderma with periorificialkeratotic plaques
: code 659
MUTYH-related AFAP
: code 247798
MUTYH-related attenuated familialadenomatous polyposis
: code 247798
MUTYH-related attenuated familialpolyposis coli
: code 247798
MUTYH-related attenuated FAP
: code 247798
MVA
: code 29
MVID
: code 2290
Myalgia-eosinophilia syndromeassociated with tryptophan
: code 2582
Myasthenia gravis
: code 589
MYBPC1-related autosomalrecessive non-lethal AMC syndrome
: code 498693
MYBPC1-related autosomal recessive non-lethal arthrogryposismultiplex congenita syndrome
: code 498693
Mycetoma
: code 2583
Mycobacterium xenopi infection
: code 314946
Mycophenolate mofetilembryopathy
: code 268249
Mycoplasma encephalitis
: code 83482
Mycosis fungoides Alibert-Bazintype
: code 2584
Mycosis fungoides-associated
: code 178512
MyD88 deficiency
: code 183713
Myelinoclastic diffuse sclerosis
: code 59298
Myelinosis centralis diffusa
: code 135
Myelocerebellar disorder
: code 2585
Myelocystocele
: code 268813
Myelodysplasia-infection- restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome
: code 494433
Myelodysplasia-infection- restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome
: code 494433
Myelodysplastic syndrome associated with isolated del(5q)chromosome abnormality
: code 86841
Myelofibrosis with myeloidmetaplasia
: code 824
Myeloid sarcoma
: code 86850
Myeloid/lymphoid neoplasm associated with FGFR1rearrangement
: code 168953
Myeloid/lymphoid neoplasm associated with PDGFRArearrangement
: code 168947
Myeloid/lymphoid neoplasm associated with PDGFRBrearrangement
: code 168950
Myelomatosis
: code 29073
Myelomeningocele
: code 93969
Myeloperoxidase deficiency
: code 2587
MYH7-related late-onset scapuloperoneal musculardystrophy
: code 437572
MYH7-related late-onsetscapuloperoneal syndrome
: code 437572
MYH7-related late-onset SPMD
: code 437572
MYH9-RD
: code 182050
MYH9-related disease
: code 182050
MYH9-related disorder
: code 182050
MYH9-related syndrome
: code 182050
MYH9-related syndromicthrombocytopenia
: code 182050
Myhre syndrome
: code 2588
Myhre-Riley-Smith syndrome
: code 109
MYO5B deficiency
: code 480491
MYO5B-related progressive familialintrahepatic cholestasis
: code 480491
Myoadenylate deaminasedeficiency
: code 45
Myoclonic atonic epilepsy
: code 1942
Myoclonic dystonia
: code 36899
Myoclonic dystonia 15
: code 36899
Myoclonic epilepsy in non-
: code 86913
Myoclonic epilepsy of infancy
: code 86909
Myoclonic status in non-progressiveencephalopathies
: code 86913
Myoclonic-astastic epilepsy
: code 1942
Myoclonic-astatic epilepsy in earlychildhood
: code 1942
Myoclonus epilepsy and ataxia dueto potassium channel mutation
: code 435438
Myoclonus epilepsy associated withragged-red fibres
: code 551
Myoclonus epilepsy in non-progressive encephalopathies
: code 86913
Myoclonus-cerebellar ataxia-deafness syndrome
: code 2589
Myoclonus-dystonia syndrome
: code 36899
Myoclonus-dystonia type 15
: code 36899
Myoclonus-nephropathy syndrome
: code 163696
Myofibrillar myopathy with earlyrespiratory failure
: code 178464
Myopathic intestinalpseudoobstruction
: code 104077
Myopathy and diabetes mellitus
: code 2596
Myopathy due to calsequestrin andSERCA1 protein overload
: code 88635
Myopathy due to phosphoglyceratemutase deficiency
: code 97234
Myopathy with exerciseintolerance Swedish type
: code 43115
Myopathy with hexagonally cross-linked tubular arrays
: code 171889
Myopathy lactic acidosis andsideroblastic anemia
: code 2598
Myopathy-growth delay- intellectual disability-hypospadiassyndrome
: code 2601
Myopathy-Moebius-Robinsyndrome
: code 1358
Myopericytoma
: code 289685
Myophosphorylase deficiency
: code 368
Myopic macular degeneration
: code 178493
Myopic maculopathy
: code 178493
Myosclerosis
: code 289380
Myositis ossificans progressiva
: code 337
Myositis purulenta tropica
: code 764
Myositis tropicans
: code 764
Myospherulosis
: code 306553
Myotonia congenita
: code 614
Myotonia fluctuans
: code 99734
Myotonia permanens
: code 99735
Myotonia-intellectual disability-skeletal anomalies syndrome
: code 3101
Myotonia-painful contractionssyndrome
: code 99736
Myotonic chondrodystrophy
: code 800
Myotonic dystrophy type 1
: code 273
Myotonic dystrophy type 2
: code 606
Myotonic dystrophy type 3
: code 52430
Myotonic myopathy dwarfism chondrodystrophy ocular and facialanomalies
: code 800
MYSM1 deficiency
: code 508542
Myxofibrosarcoma
: code 79105
Myxoid malignant fibroushistiocytoma
: code 79105
Myxoid/round cell liposarcoma
: code 99967
Myxoma with fibrous dysplasia
: code 57782
Myxoma-spotty pigmentation-endocrine overactivity syndrome
: code 1359
Myxopapillary ependymoma
: code 251643
N syndrome
: code 2608
N-acetyl-alpha-glucosaminidasedeficiency
: code 79270
N-acetylgalactosamine 4-sulfatasedeficiency
: code 583
N-acetylgalactosamine-6-sulfatesulfatase deficiency
: code 309297
N-acetylglucosamine 1-phosphotransferase deficiency
: code 576
N-acetylglucosaminyltransferase 2deficiency
: code 79329
N-acyl-L-amino acidamidohydrolase deficiency
: code 137754
Na-H exchange deficiency
: code 103908
Nablus mask-like facial syndrome
: code 178303
NAE
: code 439196
Naegeli syndrome
: code 69087
Naegeli-Franceschetti-Jadassohnsyndrome
: code 69087
Naevus syringocystadenomatosuspapilliferus
: code 840
NAFD
: code 245
NAGA deficiency
: code 3137
NAGA deficiency type 1
: code 79279
NAGA deficiency type 2
: code 79280
NAGA deficiency type 3
: code 79281
Nager acrofacial dysostosis
: code 245
Nager syndrome
: code 245
NAGS deficiency
: code 927
Naguib-Richieri-Costa syndrome
: code 2211
Nail and teeth abnormalities- marginal palmoplantar keratoderma-oralhyperpigmentation syndrome
: code 423454
Nail dysplasia-camptodactyly-brachydactyly type B syndrome
: code 1487
Nail-patella syndrome
: code 2614
Nail-patella-like renal disease
: code 2613
Nails-only DDEB
: code 158676
NAIT
: code 853
Naito-Oyanagi disease
: code 101
Najjar syndrome
: code 2229
Nakagawa angioblastoma
: code 1063
Nakajo-Nishimura syndrome
: code 2615
Nakamura-Osame syndrome
: code 2822
NALD
: code 44
NAM
: code 206569
NAME syndrome
: code 1359
Nance deafness
: code 383
Nance-Horan syndrome
: code 627
Nanophtalmos-retinitis pigmentosa-foveoschisis-optic discdrusen syndrome
: code 251279
Nanophthalmia
: code 35612
NAO syndrome
: code 85196
NAPS12
: code 247868
Narcolepsy without cataplexy
: code 83465
Narcolepsy-cataplexy syndrome
: code 2073
NARP syndrome
: code 644
Nasal dermoid cyst
: code 141103
Nasal dermoid sinus cyst
: code 141103
Nasal dorsum fistula/cyst
: code 141219
Nasal encephalocele
: code 141118
Nasal ganglioglioma
: code 141115
Nasal glial heterotopia
: code 141112
Nasal glioma
: code 141112
Nasal T/natural killer-celllymphoma
: code 86879
Nasodigitoacoustic syndrome
: code 2662
Nasolacrimal duct cyst
: code 141083
Nasolacrimal mucocele
: code 141083
Nasopalpebral lipoma-colobomasyndrome
: code 2399
Nasopharyngeal carcinoma
: code 150
Nasopharyngeal teratoma
: code 141107
Nasu-Hakola disease
: code 2770
Natal teeth-intestinal pseudoobstruction-patent ductussyndrome
: code 1654
Nathalie syndrome
: code 2663
Native American myopathy
: code 168572
Navajo brainstem syndrome
: code 69739
Navajo neurohepatopathy
: code 255229
Navajo neuropathy
: code 255229
Naxos disease
: code 34217
NBCCS
: code 377
NBIA1
: code 157850
NBIA1 atypical form
: code 216873
NBIA1 classic form
: code 216866
NBIA4
: code 289560
NBIA5
: code 329284
NBIA6
: code 397725
NBIA due to C19orf12 mutation
: code 289560
NBS
: code 647
NBS-like disorder
: code 240760
NBSLD
: code 240760
NCHI
: code 217560
NCL Northern epilepsy variant
: code 1947
NCM
: code 2481
NCMD
: code 75327
NCRNA disease
: code 91495
NDE1-relatedmicrohydranencephaly
: code 443162
Near total absence of cerebellum
: code 1398
Nebulin-related early-onset distalmyopathy
: code 399103
Necrobiotic xanthogranuloma
: code 158011
Necrolytic acral erythema
: code 439196
Necrotizing enterocolitis
: code 391673
Necrotizing soft tissue infection
: code 440368
NEHI
: code 217560
NEK9-related lethal skeletaldysplasia
: code 464366
Nelson syndrome
: code 199244
NEN of appendix
: code 100079
NEN of esophagus
: code 506136
Neonatal acute respiratory distressdue to SP-B deficiency
: code 217563
Neonatal acute respiratory distress due to surfactant protein Bdeficiency
: code 217563
Neonatal adrenoleukodystrophy
: code 44
Neonatal AHA
: code 398109
Neonatal AIHA
: code 398109
Neonatal alloimmune neutropenia
: code 464370
Neonatal antiphospholipidantibody syndrome
: code 398097
Neonatal antiphospholipidsyndrome
: code 398097
Neonatal autoimmune hemolyticanemia
: code 398109
Neonatal brainstem dysfunction
: code 137929
Neonatal Canavan disease
: code 314911
Neonatal congenital pancreatic cyst
: code 313906
Neonatal dermatomyositis
: code 398117
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystickidneys syndrome
: code 79118
Neonatal DM
: code 398117
Neonatal encephalomyopathy- cardiomyopathy-respiratory distresssyndrome
: code 457185
Neonatal glomerulopathy due toNeprilysin alloimmunization
: code 69063
Neonatal glomerulopathy due toneprilysin alloimmunization
: code 69063
Neonatal glycine encephalopathy
: code 289857
Neonatal hemochromatosis
: code 446
Neonatal Hughes syndrome
: code 398097
Neonatal hypoxic and ischemicbrain injury
: code 137577
Neonatal ichthyosis-sclerosingcholangitis syndrome
: code 59303
Neonatal inflammatory skin andbowel disease
: code 294023
Neonatal intrahepatic cholestasiscaused by citrin deficiency
: code 247598
Neonatal intrahepatic cholestasisdue to citrin deficiency
: code 247598
Neonatal iodine exposure
: code 238688
Neonatal lupus erythematosus
: code 398124
Neonatal Marfan syndrome
: code 284979
Neonatal membranous glomerulopathy with maternal NEPdeficiency
: code 69063
Neonatal membranous glomerulopathy with maternalneutral endopeptidase deficiency
: code 69063
Neonatal MFS
: code 284979
Neonatal multiple carboxylasedeficiency
: code 79242
Neonatal myasthenia gravis
: code 391504
Neonatal neutropenia
: code 42738
Neonatal NKH
: code 289857
Neonatal non-ketotichyperglycinemia
: code 289857
Neonatal osseous dysplasia type 1
: code 56304
Neonatal progeroid syndrome
: code 3455
Neonatal respiratory distresssyndrome
: code 70587
Neonatal Schwartz-Jampelsyndrome
: code 3206
Neonatal scleroderma
: code 398127
Neonatal severe cardiopulmonary failure due to mitochondrialmethylation defect
: code 466784
Neonatal severe primaryhyperparathyroidism
: code 417
Neonatal-onset multisysteminflammatory disease
: code 1451
Neoplastic hypereosinophilicsyndrome
: code 314950
Neovascular glaucoma
: code 94058
Nephroblastoma
: code 654
Nephroblastomatosis-fetal ascites- macrosomia-Wilms tumorsyndrome
: code 2849
Nephrogenic diabetes insipidus
: code 223
Nephrogenic diabetes insipidus-intracranial calcification syndrome
: code 3145
Nephrogenic fibrosing dermopathy
: code 137617
Nephrogenic syndrome ofinappropriate antidiuresis
: code 93606
Nephrogenic systemic fibrosis
: code 137617
Nephrolithiasis type 1
: code 93622
Nephrolithiasis type 2
: code 93623
Nephronophthisis
: code 655
Nephronophthisis with retinaldystrophy
: code 3156
Nephronophthisis-hepatic fibrosissyndrome
: code 84081
Nephropathic infantile cystinosis
: code 411629
Nephropathy-deafness-hyperparathyroidism syndrome
: code 2668
Nephrosis-deafness-urinary tract-digital malformations syndrome
: code 2669
Nephrosis-neuronal dysmigrationsyndrome
: code 2065
Nephrotic syndrome-deafness- pretibial epidermolysis bullosasyndrome
: code 300333
Nephrotic syndrome-hearing loss- pretibial epidermolysis bullosasyndrome
: code 300333
NEPPK
: code 2337
Nestor-Guillermo progeriasyndrome
: code 280576
NET of anal canal
: code 100082
NET of stomach
: code 100075
NET of the colon
: code 100080
NET of the rectum
: code 100081
Netherton syndrome
: code 634
Neu-Laxova syndrome
: code 2671
Neuhauser anomaly
: code 99078
Neuhuser syndrome
: code 2479
Neuhauser-Daly-Magnelli syndrome
: code 3350
Neuhauser-Eichner-Opitz syndrome
: code 2672
Neumann tumor
: code 157826
Neuralgic amyotrophy
: code 2901
Neuralgic shoulder amyotrophy
: code 2901
Neuraminidase deficiency withbeta-galactosidase deficiency
: code 351
Neurenteric cyst
: code 268865
Neurilemmoma
: code 252164
Neurilemmomatosis
: code 93921
Neurilemoma
: code 252164
Neuro-immuno-skeletal dysplasiasyndrome due to EXTL3 deficiency
: code 508533
Neuroblastoma
: code 635
Neurocutaneous melanocytosis
: code 2481
Neurocutaneous melanosis
: code 2481
Neurocutaneous syndrome Bicknell type
: code 35664
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
: code 88639
Neurodegeneration with brain ironaccumulation due to C19orf12
: code 289560
Neurodegeneration with brain iron accumulation due to COASYmutation
: code 397725
Neurodegeneration with brain ironaccumulation type 1
: code 157850
Neurodegeneration with brain ironaccumulation type 1 atypical form
: code 216873
Neurodegeneration with brain ironaccumulation type 1 classic form
: code 216866
Neurodegeneration with brain ironaccumulation type 4
: code 289560
Neurodegeneration with brain ironaccumulation type 5
: code 329284
Neurodegenerative syndrome due to cerebral folate transportdeficiency
: code 217382
Neurodevelopmental disorder- craniofacial dysmorphism-cardiacdefect-hip dysplasia syndrome
: code 453499
Neurodevelopmental disorder- craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome dueto 9q21 microdeletion
: code 352665
Neurodevelopmental disorder- craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome dueto a point mutation
: code 453504
Neuroectodermal dysplasia CHIMEtype
: code 3474
Neuroectodermal melanolysosomaldisease
: code 33445
Neuroectodermal syndrome Zunichtype
: code 3474
Neuroectodermal-endocrinesyndrome
: code 2676
Neuroendocrine carcinoma ofpancreas
: code 506098
Neuroendocrine cell hyperplasia ofinfancy
: code 217560
Neuroendocrine neoplasm ofappendix
: code 100079
Neuroendocrine neoplasm ofesophagus
: code 506136
Neuroendocrine neoplasm of thecolon
: code 100080
Neuroendocrine tumor of analcanal
: code 100082
Neuroendocrine tumor of stomach
: code 100075
Neuroendocrine tumor of the colon
: code 100080
Neuroendocrine tumor of therectum
: code 100081
Neuroepithelioma
: code 2677
Neurofaciodigitorenal syndrome
: code 2673
Neuroferritinopathy
: code 157846
Neurofibroma
: code 252183
Neurofibromatosis 1-like syndrome
: code 137605
Neurofibromatosis type 1
: code 636
Neurofibromatosis type 1 due toNF1 mutation or intragenic deletion
: code 363700
Neurofibromatosis type 1microdeletion syndrome
: code 97685
Neurofibromatosis type 1-Noonansyndrome
: code 638
Neurofibromatosis type 2
: code 637
Neurofibromatosis type 3
: code 93921
Neurofibromatosis type 6
: code 2678
Neurofibromatosis-Noonansyndrome
: code 638
Neurofibrosarcoma
: code 3148
Neurogenic acroosteolysis
: code 970
Neurogenic arthrogryposismultiplex congenita
: code 1143
Neurogenic cervical rib syndrome
: code 100073
Neurogenic costoclavicularsyndrome
: code 100073
Neurogenic diabetes insipidus
: code 178029
Neurogenic muscle weakness- ataxia-retinitis pigmentosasyndrome
: code 644
Neurogenic palpebral tumor
: code 98593
Neurogenic sarcoma
: code 3148
Neurogenic scapuloperonealamyotrophy New England type
: code 431255
Neurogenic scapuloperonealsyndrome Kaeser type
: code 85146
Neurogenic thoracic outletcompression syndrome
: code 100073
Neurogenic thoracic outletsyndrome
: code 100073
Neurogenic TOS
: code 100073
Neuroleptic malignant syndrome
: code 94093
Neurolipomatosis
: code 36397
Neurologic Waardenburg-Shahsyndrome
: code 163746
Neurological conditions associatedwith aminoacylase 1 deficiency
: code 137754
Neurolymphomatosis
: code 206586
Neuromyelitis optica
: code 71211
Neuronal ceroid lipofuscinosis Northern epilepsy variant
: code 1947
Neuronal intestinalpseudoobstruction
: code 99811
Neuronal intranuclear inclusiondisease
: code 2289
Neuropathy associated with monoclonal IgM antibodies tomyelin-associated glycoprotein
: code 639
Neuropathy with hearingimpairment
: code 139512
Neuropathy-ataxia-retinitis
: code 644
Neurosensory deafness with dilatedcardiomyopathy
: code 217622
Neurosensory hearing loss withdilated cardiomyopathy
: code 217622
Neurotrophic keratitis
: code 137596
Neurotrophic keratopathy
: code 137596
Neutral lipid storage disease withichthyosis
: code 98907
Neutral lipid storage disease withmyopathy without ichthyosis
: code 98908
Neutral lipid storage myopathy
: code 98908
Neutropenia-hyperlymphocytosis with large granular lymphocytessyndrome
: code 86872
Neutropenia-monocytopenia-deafness syndrome
: code 2690
Neutrophil immunodeficiencysyndrome
: code 183707
Neutrophil-specific granuledeficiency
: code 169142
Neutrophilic urticaria
: code 575
NEVADA syndrome
: code 370059
Nevi-atrial myxoma-myxoid neurofibromata-ephelidessyndrome
: code 1359
Nevo syndrome
: code 1900
Nevoid basal cell carcinomasyndrome
: code 377
Nevus anelasticus
: code 228264
Nevus comedonicus syndrome
: code 64754
Nevus elasticus
: code 228254
Nevus epidermicus verrucosus withangiodysplasia and aneurysms
: code 370059
Nevus fuscocaeruleusacromiodeltoideus
: code 263432
Nevus fusculoceruleusophthalmomaxillaris
: code 263425
Nevus of Ito
: code 263432
Nevus of Ota
: code 263425
Nevus sebaceus of Jadassohn
: code 2612
Nevus sebaceus syndrome
: code 2612
New-onset refractory statusepilepticus
: code 363558
Nezelof syndrome
: code 83471
NF1
: code 636
NF1 microdeletion syndrome
: code 97685
NF1-like syndrome
: code 137605
NF2
: code 637
NF3
: code 93921
NF6
: code 2678
NFJ syndrome
: code 69087
NFNS
: code 638
NFPA
: code 91349
NFU1 deficiency
: code 401869
NGCO
: code 289356
NGLY1 deficiency
: code 404454
NGLY1-CDDG
: code 404454
NGPS
: code 280576
NHD
: code 2770
NHEJ1 deficiency
: code 169079
NI-PHH
: code 276608
NICCD
: code 247598
NICH
: code 141179
Nicolaides-Baraitser syndrome
: code 3051
Niemann-Pick disease type A
: code 77292
Niemann-Pick disease type B
: code 77293
Niemann-Pick disease type C
: code 646
Niemann-Pick disease type C adultneurologic onset
: code 216986
Niemann-Pick disease type C classic form
: code 216981
Niemann-Pick disease type C juvenile neurologic onset
: code 216981
Niemann-Pick disease type C lateinfantile neurologic onset
: code 216978
Niemann-Pick disease type C severe early infantile neurologiconset
: code 216975
Niemann-Pick disease type C severe perinatal form
: code 216972
Niemann-Pick disease type D
: code 646
Niemann-Pick disease type E
: code 99022
Niemann-Pick disease Nova Scotiatype
: code 646
Nievergelt syndrome
: code 2633
Night blindness-skeletal anomalies-dysmorphism syndrome
: code 1390
Nigro-spino-dentatal degenerationwith nuclear ophthalmoplegia
: code 98757
nIHH
: code 432
Niikawa-Kuroki syndrome
: code 2322
Nijmegen breakage syndrome
: code 647
Nijmegen breakage syndrome-likedisorder
: code 240760
NIK deficiency
: code 447731
Nine Mile fever
: code 781
Nipah encephalitis
: code 99825
Nipah fever
: code 99825
Nipah virus disease
: code 99825
NISCH syndrome
: code 59303
Nivelon-Nivelon-Mabille syndrome
: code 1422
NK-cell enteropathy
: code 263665
NK-cell large granular lymphocyteleukemia
: code 86873
NK-cell LGL leukemia
: code 86873
NK/T-cell lymphoma
: code 86879
NKA
: code 407
NKTCL
: code 86879
NLPHL
: code 86893
NLRC4-related autoinflammatory syndrome with macrophageactivation syndrome
: code 436166
NLRC4-related autoinflammatorysyndrome with MAS
: code 436166
NLRC4-related infantile enterocolitis-autoinflammatorysyndrome
: code 436166
NLRC4-related macrophageactivation syndrome
: code 436166
NLRC4-related MAS
: code 436166
NLRP12-associated hereditaryperiodic fever syndrome
: code 247868
NLSDI
: code 98907
NLSDM
: code 98908
NMC
: code 443167
NMG
: code 391504
NMZL
: code 86867
NNS
: code 2615
Noble-Bass-Sherman syndrome
: code 1884
Nocardiosis
: code 31204
Nocturnal paroxysmal dystonia
: code 98784
Nodal marginal zone B-celllymphoma
: code 86867
Nodular cutaneous amyloidosis
: code 137810
Nodular fasciitis
: code 477742
Nodular lichen myxedematosus
: code 90393
Nodular lymphocyte predominantHodgkin lymphoma
: code 86893
Nodular neuronal heterotopia
: code 2149
Nodular non-suppurativepanniculitis
: code 33577
Nodular regenerative hyperplasiaof the liver
: code 48372
Nodular urticaria pigmentosa
: code 158772
Nodulosis-arthropathy-osteolysissyndrome
: code 85196
Noma
: code 2700
NOMID syndrome
: code 1451
Non-24-hour sleep-wake syndrome
: code 73267
Non-acquired combined pituitary hormone deficiency-deafness-rigidcervical spine syndrome
: code 231720
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalitiessyndrome
: code 231720
Non-acquired isolated growthhormone deficiency
: code 631
Non-amyloid fibrillaryglomerulonephritis
: code 97566
Non-amyloid fibrillaryglomerulopathy
: code 97566
Non-amyloid MIDD
: code 86861
Non-amyloid monoclonal
: code 86861
Non-bullous congenitalichthyosiform erythroderma
: code 79394
Non-central nervous system-localized embryonal carcinoma
: code 289362
Non-cerebral juvenile Gaucherdisease
: code 77259
Non-cirrhotic nodulation
: code 48372
Non-cirrhotic portal veinthrombosis
: code 854
Non-classic congenital lipoid adrenal hyperplasia due to STARdeficency
: code 325529
Non-CNS-localized embryonalcarcinoma
: code 289362
Non-deforming osteogenesisimperfecta
: code 216796
Non-distal deletion 7p
: code 96136
Non-distal deletion 10q
: code 1581
Non-distal deletion 12q
: code 96160
Non-distal deletion 20q
: code 96164
Non-distal duplication 9q
: code 96112
Non-distal duplication 10q
: code 1695
Non-distal duplication 13q
: code 1702
Non-distal monosomy 7p
: code 96136
Non-distal monosomy 10q
: code 1581
Non-distal monosomy 12q
: code 96160
Non-distal monosomy 20q
: code 96164
Non-distal tetrasomy 15q
: code 3306
Non-distal trisomy 9q
: code 96112
Non-distal trisomy 10q
: code 1695
Non-distal trisomy 13q
: code 1702
Non-DS-AMKL
: code 329469
Non-dysgerminomatous germ cellcancer of ovary
: code 206538
Non-dysgerminomatous germ celltumor of testis
: code 363494
Non-epidermolytic palmoplantarkeratoderma
: code 2337
Non-epidermolytic palmoplantarkeratoderma
: code 2199
Non-eruption of teeth-maxillaryhypoplasia-genu valgum syndrome
: code 2972
Non-fluent variant PPA
: code 100070
Non-functioning neuroendocrinetumor of pancreas
: code 506075
Non-functioning pancreatic NET
: code 506075
Non-functioning pancreaticneuroendocrine tumor
: code 506075
Non-functioning paraganglioma
: code 94080
Non-functioning pituitary adenoma
: code 91349
Non-functioning PNET
: code 506075
Non-functioning well-differentiatedNEN of pancreas
: code 506075
Non-functioning well-differentiated
: code 506075
Non-functioning well-differentiatedpancreatic NEN
: code 506075
Non-functioning well-differentiated pancreatic neuroendocrineneoplasm
: code 506075
Non-giant cell granulomatoustemporal arteritis with eosinophilia
: code 26137
Non-hereditary congenital primarylymphedema
: code 79452
Non-hereditary late-onset primarylymphedema
: code 90186
Non-hereditary retinoblastoma
: code 357034
Non-herpetic acute limbicencephalitis
: code 163924
Non-hypoproteinemic hypertrophicgastropathy
: code 329883
Non-Ig-mediated membranoproliferativeglomerulonephritis
: code 329918
Non-Ig-mediated MPGN
: code 329918
Non-immune fetal edema
: code 363999
Non-immune fetal hydrops
: code 363999
Non-immune HF
: code 363999
Non-immune hydrops fetalis
: code 363999
Non-immunoglobulin-mediated membranoproliferativeglomerulonephritis
: code 329918
Non-immunoglobulin-mediatedMPGN
: code 329918
Non-inflammatory generalizedpeeling skin syndrome type A.
: code 263548
Non-inflammatory peeling skinsyndrome type A
: code 263548
Non-involuting congenitalhemangioma
: code 141179
Non-ketotic hyperglycinemia
: code 407
Non-Leber type optic atrophy withearly-onset
: code 98890
Non-nephropathic cystinosis
: code 411641
Non-neurogenic neurogenicbladder
: code 84085
Non-papillary transitional cellcarcinoma of the bladder
: code 209989
Non-papillary urothelial carcinoma
: code 209989
Non-phenylketonurichyperphenylalaninemia
: code 238583
Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
: code 508523
Non-PKU HPA
: code 79651
Non-polyposis Turcot syndrome
: code 144
Non-progressive cerebellar ataxiawith intellectual disability
: code 314647
Non-progressive cerebellar ataxia-intellectual disability syndrome
: code 1766
Non-progressive predominantly posterior cavitating leukoencephalopathy withperipheral neuropathy
: code 436271
Non-recovering OBPI
: code 439202
Non-recovering OBPL
: code 439202
Non-recovering obstetric brachialplexus lesion
: code 439202
Non-secreting chemodectoma
: code 101106
Non-secreting paraganglioma
: code 94080
Non-seminomatous germ celltumor of testis
: code 363494
Non-specific idiopathic interstitialpneumonia
: code 91364
Non-specific interstitial pneumonia
: code 91364
Non-specific myositis
: code 206572
Non-spherocytic hemolytic anemiadue to hexokinase deficiency
: code 90031
Non-syndromic bicoronal synostosis
: code 35099
Non-syndromic biliary atresia
: code 30391
Non-syndromic congenital retinalnon-attachment
: code 91495
Non-syndromic dentinogenesisimperfecta
: code 49042
Non-syndromic DGI
: code 49042
Non-syndromic genetic deafness
: code 87884
Non-syndromic male infertility dueasthenozoospermia
: code 276234
Non-syndromic male infertility dueto sperm motility disorder
: code 276234
Non-syndromic metopiccraniosynostosis
: code 3366
Non-syndromic sagittal synostosis
: code 35093
Non-syndromic unicoronalsynostosis
: code 35098
Non-telomeric monosomy 7p
: code 96136
Non-telomeric monosomy 10q
: code 1581
Non-telomeric monosomy 12q
: code 96160
Non-telomeric monosomy 20q
: code 96164
Non-telomeric tetrasomy 15q
: code 3306
Non-telomeric trisomy 9q
: code 96112
Non-telomeric trisomy 10q
: code 1695
Non-telomeric trisomy 13q
: code 1702
Non-tuberculous mycobacteriallung disease
: code 411703
Non-Wilsonian hepatic coppertoxicosis of infancy and childhood
: code 209919
Nonaka myopathy
: code 602
Nonne-Milroy lymphedema
: code 79452
Noonan syndrome
: code 648
Noonan syndrome with multiplelentigines
: code 500
Noonan syndrome-like disorderwith JMML
: code 363972
Noonan syndrome-like disorder
: code 363972
Noonan syndrome-like disorderwith loose anagen hair
: code 2701
Noradrenaline deficiency
: code 230
Norepinephrine deficiency
: code 230
Normal pressure hydrocephalus
: code 314928
Norman disease
: code 2254
Norman-Landing disease
: code 79255
Normokalemic periodic paralysis
: code 682
Normokalemic PP
: code 682
NormoKPP
: code 682
Normomorphic sialidosis
: code 812
NormoPP
: code 682
Normosmic congenitalhypogonadotropic hypogonadism
: code 432
Normosmic idiopathichypogonadotropic hypogonadism
: code 432
Norrie disease
: code 649
Norrie-Warburg disease
: code 649
NORSE
: code 363558
North Carolina macular dystrophy
: code 75327
North Carolina macular dystrophy retinal 1
: code 75327
North Sea progressive myoclonusepilepsy
: code 280620
Northern epilepsy
: code 1947
Norum disease
: code 79293
Notochordal sarcoma
: code 178
Nova syndrome
: code 2703
NPH
: code 314928
NPHP3-related Meckel-likesyndrome
: code 3032
NR1H4 deficiency
: code 480476
NS
: code 634
NS-ARID
: code 88616
NS/LAH
: code 2701
NSHPT
: code 417
NSIAD
: code 93606
NSIP
: code 91364
NSTI
: code 440368
NTHL1-related AFAP
: code 454840
NTHL1-related attenuated familialadenomatous polyposis
: code 454840
NTHL1-related attenuated FAP
: code 454840
NTOS
: code 100073
Null pituitary adenoma
: code 314790
Null syndrome
: code 280234
NUT midline carcinoma
: code 443167
OA1
: code 54
OAFNS
: code 398156
OAS
: code 1106
OAV dysplasia
: code 374
OAVS
: code 374
Oberklaid-Danks syndrome
: code 97297
Obesity due to CEP19 deficiency
: code 397615
Obesity due to congenital leptindeficiency
: code 66628
Obesity due to leptin receptor genedeficiency
: code 179494
Obesity due to melanocortin 4receptor deficiency
: code 71529
Obesity due to pro-opiomelanocortin deficiency
: code 71526
Obesity due to prohormoneconvertase I deficiency
: code 71528
Obesity due to SIM1 deficiency
: code 369873
Obesity-colitis-hypothyroidism- cardiac hypertrophy-developmentaldelay syndrome
: code 88643
Obliterative bronchiolitis
: code 1303
Obliterative portal venopathy
: code 64743
Obrinsky syndrome
: code 2970
Obstructed hemivagina andipsilateral renal anomaly
: code 3411
OCA1
: code 352731
OCA1-MP
: code 352734
OCA1-TS
: code 352737
OCA1A
: code 79431
OCA1B
: code 79434
OCA2
: code 79432
OCA3
: code 79433
OCA4
: code 79435
OCA5
: code 370091
OCA6
: code 370097
OCA7
: code 352745
Occipital atretic cephalocele-unusual facies-large feet syndrome
: code 217017
Occipital encephalocele
: code 268823
Occipital horn syndrome
: code 198
Occipital malformations of corticaldevelopment
: code 280640
Occipital MCD
: code 280640
Occipital pachygyria andpolymicrogyria
: code 280640
Occlusive idiopathic juxtafoveolarretinal telangiectasis
: code 353351
Occlusive infantile arteriopathy
: code 51608
OCCS
: code 1647
Occult ectopic ACTH secretion
: code 99889
Occult macular dystrophy
: code 247834
Occult neuropathic bladder
: code 84085
Ochoa syndrome
: code 2704
OCMD
: code 247834
OCR
: code 534
OCRL
: code 534
OCT deficiency
: code 664
Ocular albinism type 1
: code 54
Ocular albinism with congenital
: code 352740
Ocular albinism with late-onsetsensorineural deafness
: code 1000
Ocular albinism Nettleship-Fallstype
: code 54
Ocular cystinosis
: code 411641
Ocular form of osteogenesisimperfecta
: code 2788
Ocular motor apraxia Cogan type
: code 1125
Ocular pemphigoid
: code 99922
Oculo-cerebro-renal dystrophy
: code 534
Oculo-cerebro-renal syndrome
: code 534
Oculo-digito-esophageal-duodenalsyndrome
: code 1305
Oculo-digito-esophageal-duodenalsyndrome type 1
: code 391641
Oculo-oto-facial dysplasia
: code 1200
Oculo-oto-radial syndrome
: code 2307
Oculo-palato-cerebral dwarfism
: code 2714
Oculo-palato-cerebral syndrome
: code 2714
Oculo-skeletal-abdominalsyndrome
: code 293843
Oculoauricular syndrome Schorderet type
: code 157962
Oculoauriculofrontonasal syndrome
: code 398156
Oculoauriculovertebral dysplasia
: code 374
Oculoauriculovertebral spectrumwith radial defects
: code 2549
Oculoauriculovertebral syndrome
: code 374
Oculocerebral dysplasia
: code 2705
Oculocerebral hypopigmentationsyndrome Cross type
: code 2719
Oculocerebral hypopigmentationsyndrome Preus type
: code 2720
Oculocerebrocutaneous syndrome
: code 1647
Oculocerebrofacial syndrome Kaufman type
: code 2707
Oculocerebrorenal dystrophy
: code 534
Oculocerebrorenal syndrome ofLowe
: code 534
Oculocutaneous albinism type 1
: code 352731
Oculocutaneous albinism type 1A
: code 79431
Oculocutaneous albinism type 1B
: code 79434
Oculocutaneous albinism type 2
: code 79432
Oculocutaneous albinism type 3
: code 79433
Oculocutaneous albinism type 4
: code 79435
Oculocutaneous albinism type 5
: code 370091
Oculocutaneous albinism type 6
: code 370097
Oculocutaneous albinism type 7
: code 352745
Oculocutaneous albinism Amishtype
: code 79434
Oculocutaneous tyrosinemia
: code 28378
Oculodental syndrome Rutherfurdtype
: code 2709
Oculodentodigital dysplasia
: code 2710
Oculodentoosseous dysplasia
: code 2710
Oculoectodermal syndrome
: code 3339
Oculofaciocardiodental syndrome
: code 2712
Oculogastrointestinal musculardystrophy
: code 1876
Oculomandibulofacial syndrome
: code 2108
Oculomaxillofacial dysostosis
: code 1794
Oculomelic amyoplasia
: code 1154
Oculomotor apraxia Cogan type
: code 1125
Oculoosteocutaneous syndrome
: code 2713
Oculootodental syndrome
: code 99806
Oculopalatoskeletal syndrome
: code 293843
Oculopharyngeal distal myopathy
: code 98897
Oculopharyngeal musculardystrophy
: code 270
Oculopharyngodistal myopathy
: code 98897
Oculorenocerebellar syndrome
: code 2715
Oculotrichoanal syndrome
: code 2717
Oculotrichodysplasia
: code 2718
ODCD
: code 166272
ODDD syndrome
: code 2710
ODED syndrome
: code 1305
ODED syndrome type 1
: code 391641
O’Doherty syndrome
: code 999
O’Donnell-Pappas syndrome
: code 2253
Odonto-onycho dysplasia-alopeciasyndrome
: code 2722
Odonto-onycho-dermal dysplasia
: code 2721
Odonto-onycho-hypohidrotic dysplasia-midline scalp defectssyndrome
: code 2036
Odonto-tricho-ungual-digito-palmarsyndrome
: code 69082
Odonto-tricho-ungual-digito-palmarsyndrome Mendoza-Valiente type
: code 69082
Odontochondrodysplasia
: code 166272
Odontogenic keratocystoma
: code 447777
Odontohypophosphatasia
: code 247685
Odontoleukodystrophy
: code 77295
Odontomatosis-aortae esophagusstenosis syndrome
: code 2724
Odontomicronychial dysplasia
: code 1811
Odontotrichomelic syndrome
: code 2723
ODP
: code 1487
OEIS complex
: code 93929
Oerter-Friedman-Andersonsyndrome
: code 2676
OFC syndrome
: code 2792
OFCD syndrome
: code 2712
OFD
: code 488265
OFD1
: code 2750
OFD2
: code 2751
OFD3
: code 2752
OFD4
: code 2753
OFD5
: code 2919
OFD6
: code 2754
OFD7
: code 2750
OFD8
: code 2755
OFD9
: code 141007
OFD10
: code 2756
OFD11
: code 141000
OFD12
: code 141327
OFD13
: code 141330
OFD14
: code 434179
OFD18
: code 508501
OFDI
: code 2750
OFDSI
: code 2750
Off-periods in Parkinson diseasenot responding to oral treatment
: code 391655
OGCT of pancreas
: code 424080
Ogden syndrome
: code 276432
Oguchi disease
: code 75382
Oguchi syndrome
: code 75382
Ohaha syndrome
: code 1186
Ohdo syndrome
: code 2728
Ohdo-Madokoro-Sonoda syndrome
: code 2728
OHSS
: code 64739
Ohtahara syndrome
: code 1934
OHVIRA syndrome
: code 3411
OI
: code 666
OI type 1
: code 216796
OI type 2
: code 216804
OI type 3
: code 216812
OI type 4
: code 216820
OI type 5
: code 216828
Okamoto syndrome
: code 2729
Okihiro syndrome
: code 93293
Okihiro syndrome due to 20q13microdeletion
: code 261638
Okihiro syndrome due to a pointmutation
: code 261647
Okihiro syndrome due todel(20)(q13)
: code 261638
Okihiro syndrome due tomonosomy 20q13
: code 261638
OL-EDA-ID
: code 69088
Oley syndrome
: code 113
Olfacto-genital pathologicalsequence
: code 478
Olfactory neuroblastoma
: code 1957
Oligoarticular JIA
: code 85410
Oligoarticular JIA with anti-nuclearantibodies
: code 247839
Oligoarticular JIA without anti-nuclear antibodies
: code 247846
Oligoarticular juvenile idiopathicarthritis
: code 85410
Oligoarticular juvenile idiopathic
: code 247839
Oligoarticular juvenile idiopathic arthritis without anti-nuclearantibodies
: code 247846
Oligoastrocytoma
: code 251656
Oligocone syndrome
: code 75378
Oligocone trichromacy
: code 75378
Oligodendroglioma
: code 251627
Oligodontia
: code 99798
Oligodontia-cancer predispositionsyndrome
: code 300576
Oligomeganephronia
: code 2260
Oligomeganephronic renalhypoplasia
: code 2260
Oligophrenin-1 syndrome
: code 137831
Oliver syndrome
: code 2920
Oliver-McFarlane syndrome
: code 3363
Olivopontocerebellar atrophy-deafness syndrome
: code 2732
Olivopontocerebellar hypoplasia
: code 166063
Ollier disease
: code 296
Olmsted syndrome
: code 659
OMA syndrome
: code 1183
OMD
: code 247834
Omenn syndrome
: code 39041
OMM syndrome
: code 2741
Omodysplasia
: code 2733
Omphalocele
: code 660
Omphalocele syndrome Shprintzen-Goldberg type
: code 3164
Omphalocele-cloacal exstrophy- imperforate anus-spinal defectsyndrome
: code 93929
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
: code 496693
Omphalomesenteric cyst
: code 490
OMPP
: code 210115
OMS
: code 1183
Omsk hemorrhagic fever
: code 319266
Onat syndrome
: code 3191
Onchocerciasis
: code 2737
Oncocytic cardiomyopathy
: code 137675
Oncogenic hypophosphatemicosteomalacia
: code 352540
Oncogenic osteomalacia
: code 352540
Ondine curse
: code 661
Ondine syndrome
: code 661
Ondine-Hirschsprung disease
: code 99803
Ondine-Hirschsprung syndrome
: code 99803
ONMR syndrome
: code 33364
Onycho-digito-mammary syndrome
: code 238744
Onycho-tricho-dysplasia-neutropenia syndrome
: code 33364
Onychocytic matricoma
: code 300504
Onychomatricoma
: code 300512
Onychoosteodysplasia
: code 2614
OOCHS
: code 2786
OOD
: code 99806
OODD
: code 2721
OPA2
: code 98890
OPA3 autosomal dominant
: code 67036
Opalescent teeth without OI
: code 49042
Opalescent teeth withoutosteogenesis imperfecta
: code 49042
OPD I syndrome
: code 90650
OPD II syndrome
: code 90652
OPD syndrome 1
: code 90650
OPD syndrome 2
: code 90652
OPDM
: code 98897
Open iniencephaly
: code 268363
OPHN1 syndrome
: code 137831
Ophthalmoacromelic syndrome
: code 1106
Ophthalmomandibulomelicdysplasia
: code 2741
Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
: code 1186
Ophthalmoplegia-intellectualdisability-lingua scrotalis syndrome
: code 2743
Opitz C trigonocephaly
: code 1308
Opitz G/BBB syndrome
: code 2745
Opitz syndrome
: code 2745
Opitz trigonocephaly C syndrome
: code 1308
Opitz trigonocephaly syndrome
: code 1308
Opitz trigonocephaly-like syndrome
: code 97297
Opitz-Caltabiano syndrome
: code 1786
Opitz-Frias syndrome
: code 2745
Opitz-Kaveggia syndrome
: code 93932
OPMD
: code 270
OPN
: code 499107
Oppenheim dystonia
: code 256
OPPG
: code 2788
Opsismodysplasia
: code 2746
Opsoclonus-myoclonus syndrome
: code 1183
Opsoclonus-myoclonus-ataxiasyndrome
: code 1183
Optic ataxia-gaze apraxia-simultanagnosia syndrome
: code 363746
Optic atrophy type 1
: code 98673
Optic atrophy type 2
: code 98890
Optic atrophy-deafness- polyneuropathy-myopathysyndrome
: code 1215
Optic atrophy-intellectual disabilitysyndrome
: code 401777
Optic atrophy-ophthalmoplegia- ptosis-deafness-myopathysyndrome
: code 1215
Optic atrophy-peripheral neuropathy-developmental delaysyndrome
: code 496790
Optic nerve edema-splenomegalysyndrome
: code 313800
Optic pathway glioma
: code 2086
Optic perineuritis
: code 499107
Oral dysesthesia
: code 353253
Oral erosive lichen
: code 31142
Oral submucous fibrosis
: code 357154
Oral tongue squamous cellcarcinoma
: code 457252
Oral-facial-digital syndrome type 1
: code 2750
Oral-facial-digital syndrome type 2
: code 2751
Oral-facial-digital syndrome type 3
: code 2752
Oral-facial-digital syndrome type 4
: code 2753
Oral-facial-digital syndrome type 5
: code 2919
Oral-facial-digital syndrome type 6
: code 2754
Oral-facial-digital syndrome type 7
: code 2750
Oral-facial-digital syndrome type 8
: code 2755
Oral-facial-digital syndrome type 9
: code 141007
Oral-facial-digital syndrome type 10
: code 2756
Oral-facial-digital syndrome type 11
: code 141000
Oral-facial-digital syndrome type 12
: code 141327
Oral-facial-digital syndrome type 13
: code 141330
Oral-facial-digital syndrome type 14
: code 434179
Oral-facial-digital syndrome type 18
: code 508501
Oral-facial-digital syndrome withretinal abnormalities
: code 141007
Oral-facial-digital syndrome with short stature andbrachymesophalangia
: code 508501
Oral-facial-digital syndrome Edwards type
: code 2755
Oral-facial-digital syndrome Gabrielli type
: code 141000
ORAS
: code 500062
Orbital cyst with cerebral and focaldermal malformations
: code 1647
Orbital leiomyoma
: code 52994
Orbital medulloepithelioma
: code 268139
Organoid nevus syndrome
: code 2612
Orgasm-induced seizures
: code 166421
Ormond disease
: code 49041
Ornithine aminotransferasedeficiency
: code 414
Ornithine carbamoyltransferasedeficiency
: code 664
Ornithine carrier deficiency
: code 415
Ornithine transcarbamylasedeficiency
: code 664
Ornithine translocase deficiency
: code 415
ORNT1 deficiency
: code 415
Orocraniodigital syndrome
: code 2319
Orodynia
: code 353253
Orofaciodigital syndrome type 1
: code 2750
Orofaciodigital syndrome type 2
: code 2751
Orofaciodigital syndrome type 3
: code 2752
Orofaciodigital syndrome type 4
: code 2753
Orofaciodigital syndrome type 5
: code 2919
Orofaciodigital syndrome type 6
: code 2754
Orofaciodigital syndrome type 7
: code 2750
Orofaciodigital syndrome type 8
: code 2755
Orofaciodigital syndrome type 9
: code 141007
Orofaciodigital syndrome type 10
: code 2756
Orofaciodigital syndrome type 11
: code 141000
Orofaciodigital syndrome type 12
: code 141327
Orofaciodigital syndrome type 13
: code 141330
Orofaciodigital syndrome type 14
: code 434179
Orofaciodigital syndrome type 18
: code 508501
Orofaciodigital syndrome withfibular aplasia
: code 2756
Orofaciodigital syndrome withretinal abnormalities
: code 141007
Orofaciodigital syndrome Edwardstype
: code 2755
Orofaciodigital syndrome Gabriellitype
: code 141000
Orofaciodigital syndrome Thurstontype
: code 2919
Oromandibular dystonia
: code 93958
Oropharyngeal teratoma
: code 141077
Oroticaciduria
: code 30
Orotidylic decarboxylase deficiency
: code 30
Oroya fever
: code 64692
Orthostatic intolerance due to NETdeficiency
: code 443236
OSA syndrome
: code 293843
Osebold-Remondini syndrome
: code 93382
Osgood-Schlatter disease
: code 97335
OSLAM syndrome
: code 2760
Osler-Vaquez disease
: code 729
OSMED
: code 1427
OSMF
: code 357154
Osseous venous malformation
: code 140436
Ossification anomalies-psychomotor developmental delay syndrome
: code 73230
Osteitis condensans of the clavicle
: code 57196
Osteoblastoma
: code 58040
Osteochondritis dissecans
: code 2764
Osteochondritis dissecans and shortstature
: code 251262
Osteochondritis of phalangealepiphyses
: code 3314
Osteochondritis oftarsal/metatarsal bone
: code 2054
Osteochondritis of the capitalfemoral epiphysis
: code 2380
Osteochondritis of the lunate bone
: code 97332
Osteochondritis of the tibialtubercle
: code 97335
Osteochondrodysplatic dwarfism- deafness-retinitis pigmentosasyndrome
: code 2653
Osteochondrodysplatic nanism- deafness-retinitis pigmentosasyndrome
: code 2653
Osteochondromuscular dystrophy
: code 800
Osteochondrosis deformans tibiae
: code 2768
Osteochondrosis of patella
: code 97337
Osteochondrosis of phalangealepiphyses
: code 3314
Osteochondrosis of the capitalfemoral epiphysis
: code 2380
Osteochondrosis of the capitalhumerus
: code 97336
Osteochondrosis of the lunate bone
: code 97332
Osteochondrosis of the tarsal bone
: code 2054
Osteochondrosis of the tibialtubercle
: code 97335
Osteoclastic giant cell tumor ofpancreas
: code 424080
Osteoclastoma
: code 363976
Osteocraniosplenic syndrome
: code 2763
Osteocraniostenosis
: code 2763
Osteofibrous dysplasia
: code 488265
Osteogenesis imperfecta
: code 666
Osteogenesis imperfecta type 1
: code 216796
Osteogenesis imperfecta type 2
: code 216804
Osteogenesis imperfecta type 3
: code 216812
Osteogenesis imperfecta type 4
: code 216820
Osteogenesis imperfecta type 5
: code 216828
Osteogenesis imperfecta-congenitaljoint contractures syndrome
: code 2771
Osteogenesis imperfecta- retinopathy-seizures-intellectualdisability syndrome
: code 2773
Osteogenic sarcoma
: code 668
Osteoglophonic dwarfism
: code 2645
Osteoglosphonic dysplasia
: code 2645
Osteomesopyknosis
: code 2777
Osteomyelofibrosis
: code 824
Osteonecrosis of the jaw
: code 399293
Osteopathia striata-cranial sclerosissyndrome
: code 2780
Osteopathia striata-pigmentarydermopathy-white forelock syndrome
: code 2779
Osteopenia-intellectual disability-sparse hair syndrome
: code 2324
Osteopenia-myopia-hearing loss- intellectual disability-facialdysmorphism syndrome
: code 91133
Osteopetrosis autosomal dominant
: code 53
Osteopetrosis with renal tubularacidosis
: code 2785
Osteopetrosis-hypogammaglobulinemia syndrome
: code 178389
Osteopoikilosis-short stature-intellectual disability syndrome
: code 94063
Osteoporosis-macrocephaly- blindness-joint hyperlaxitysyndrome
: code 2787
Osteoporosis-oculocutaneoushypopigmentation syndrome
: code 2786
Osteoporosis-pseudogliomasyndrome
: code 2788
Osteopsathyrosis
: code 666
Osteosarcoma
: code 668
Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome
: code 2760
Ostosclrose autosomiquedominante type Worth
: code 2790
Osteosclerosis-developmentaldelay-craniosynostosis syndrome
: code 178377
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
: code 75325
Osteosclerotic metaphysealdysplasia
: code 500548
Osteosclerotic myeloma
: code 2905
Ostravik-Lindemann-Solbergsyndrome
: code 1338
O’Sullivan-McLeod syndrome
: code 99965
OTC deficiency
: code 664
OTCS
: code 1308
Otodental dysplasia
: code 2791
Otodental syndrome
: code 2791
Otofaciocervical syndrome
: code 2792
Otomandibular dysostosis
: code 141136
Otomandibular syndrome
: code 141136
Otoonychoperoneal syndrome
: code 2793
Otopalatodigital syndrome type 1
: code 90650
Otopalatodigital syndrome type 2
: code 90652
Otospondylomegaepiphysealdysplasia
: code 1427
OTSCC
: code 457252
OTUDP syndrome
: code 69082
OTULIN deficiency
: code 500062
OTULIN-related autoinflammatorysyndrome
: code 500062
Otulipenia
: code 500062
Oudtshoorn disease
: code 50943
Ouvrier-Billson syndrome
: code 1179
Ovarian adenocarcinoma
: code 213504
Ovarian carcinosarcoma
: code 213512
Ovarian clear cell adenocarcinoma
: code 398971
Ovarian fibroma
: code 314473
Ovarian fibrothecoma
: code 314478
Ovarian hyperstimulationsyndrome
: code 64739
Ovarian immature teratoma
: code 398987
Ovarian malignant mixed epithelialmesenchymal tumor
: code 213512
Ovarian malignant mixed Mlleriantumor
: code 213512
Ovarian malignant Sertoli-Leydigcell tumor
: code 99916
Ovarian malignant teratoma
: code 398987
Ovarian mucinous adenocarcinoma
: code 398961
Ovarian Sertoli-Leydig cell cancer
: code 99916
Ovarian tumor of low malignantpotential
: code 206473
Ovarioleukodystrophy
: code 99853
Overgrowth syndrome with 2q37translocation
: code 498488
Overgrowth-macrocephaly-facialdysmorphism syndrome
: code 137634
Overgrowth-metaphyseal undermodeling-spondylar dysplasiasyndrome
: code 498485
Overhydrated hereditarystomatocytosis
: code 3203
Overlap myositis
: code 206572
Owren disease
: code 326
OXCT1 deficiency
: code 832
Oxoglutaricaciduria
: code 31
Oxoprolinuria due to oxoprolinasedeficiency
: code 33572
Oxysterol 7-alpha-hydroxylasedeficiency
: code 79302
P2Y12 defect
: code 36355
P5CS deficiency
: code 35664
P5N deficiency
: code 35120
PACD
: code 98971
Pachydermoperiostosis
: code 2796
Pachygyria-intellectual disability-epilepsy syndrome
: code 2798
Pachyonychia congenita
: code 2309
Pacman dysplasia
: code 1952
PACNS
: code 140989
PADMAL
: code 477749
PAF
: code 441
PAFAH1B1-related lissencephaly
: code 95232
Paget disease of the breast
: code 180275
Paget disease of the nipple
: code 180275
Paget-Schrotter disease
: code 357131
Pagetoid amyotrophic lateralsclerosis
: code 52430
Pagetoid neuroskeletal syndrome
: code 52430
Pagetoid reticulosis Woringer-Kolopp type
: code 178517
Paget’s disease of the nipple
: code 180275
PAGOD syndrome
: code 991
Pagon-Bird-Detter syndrome
: code 2802
PAH deficiency
: code 716
Pai syndrome
: code 1993
Painful bladder syndrome
: code 37202
Painful bruising syndrome
: code 324636
Painful congenital myotonia
: code 99736
Painful myotonia
: code 99736
Painful ophthalmoplegia
: code 64686
Painful orbital and systemic neurofibromas-marfanoid habitussyndrome
: code 300501
PAIS
: code 90797
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
: code 477993
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
: code 477993
Palatodigital syndrome Catel-Manzke type
: code 1388
PALE
: code 163921
Pallidopyramidal syndrome
: code 171695
Pallister ulnar-mammary syndrome
: code 3138
Pallister-Hall syndrome
: code 672
Pallister-Killian syndrome
: code 884
Pallister-W syndrome
: code 2804
Palmar plantar and disseminatedporokeratosis
: code 737
Palmer-Pagon syndrome
: code 2184
Palmoplantar and periorificialkeratoderma
: code 659
Palmoplantar hyperkeratosis witharrythmogenic cardiomyopathy
: code 34217
Palmoplantar hyperkeratosis Nagashima type
: code 140966
Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosissyndrome
: code 50944
Palmoplantar hyperkeratosis-deafness syndrome
: code 2202
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
: code 2198
Palmoplantar hyperkeratosis-hearing loss syndrome
: code 2202
Palmoplantar hyperkeratosis- periodontopathia-onychogryposissyndrome
: code 2342
Palmoplantar hyperkeratosis-sclerodactyly syndrome
: code 384
Palmoplantar hyperkeratosis-spastic paralysis syndrome
: code 2201
Palmoplantar hyperkeratosis-XX sex reversal-predisposition tosquamous cell carcinoma syndrome
: code 85112
Palmoplantar keratoderma andcongenital alopecia Stevanovic type
: code 1010
Palmoplantar keratoderma andcongenital alopecia Wallis type
: code 1366
Palmoplantar keratoderma witharrythmogenic cardiomyopathy
: code 34217
Palmoplantar keratoderma withtonotubular keratin
: code 2199
Palmoplantar keratoderma Nagashima type
: code 140966
Palmoplantar keratoderma-clinodactyly syndrome
: code 86919
Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosissyndrome
: code 50944
Palmoplantar keratoderma-deafness syndrome
: code 2202
Palmoplantar keratoderma-esophageal carcinoma syndrome
: code 2198
Palmoplantar keratoderma-hearingloss syndrome
: code 2202
Palmoplantar keratoderma- periodontopathia-onychogryposissyndrome
: code 2342
Palmoplantar keratoderma-sclerodactyly syndrome
: code 384
Palmoplantar keratoderma-spasticparalysis syndrome
: code 2201
Palmoplantar keratoderma-XX sex reversal-predisposition to squamouscell carcinoma syndrome
: code 85112
Palmoplantar porokeratosis ofMantoux
: code 79502
Palmoplantar pustulosis
: code 163927
PAN
: code 767
Panayiotopoulos syndrome
: code 98815
Pancreatic acinar cell carcinoma
: code 424046
Pancreatic adenoma
: code 93292
Pancreatic and cerebellar agenesis
: code 65288
Pancreatic cholera
: code 97282
Pancreatic colipase deficiency
: code 309108
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
: code 2255
Pancreatic insufficiency and bonemarrow dysfunction
: code 811
Pancreatic insufficiency-anemia-hyperostosis syndrome
: code 199337
Pancreatic intraductal papillarymucinous carcinoma
: code 424058
Pancreatic MiNEN
: code 506112
Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm
: code 506112
Pancreatic mucinouscystadenocarcinoma
: code 424053
Pancreatic NEC
: code 506098
Pancreatic neuroendocrinecarcinoma
: code 506098
Pancreatic osteoclastic giant cell
: code 424080
Pancreatic polypeptidoma
: code 97278
Pancreatic serouscystadenocarcinoma
: code 424073
Pancreatic solid pseudopapillarycarcinoma
: code 424065
Pancreatic squamous cellcarcinoma
: code 424039
Pancreatic triacylglycerol lipasedeficiency
: code 309031
Pancreatic triglyceride lipasedeficiency
: code 309031
Pancreatic undifferentiatedcarcinoma with osteoclast-like giant cells
: code 424080
Pancreatoblastoma
: code 677
Pancytopenia due to IKZF1mutations
: code 317473
Pancytopenia-developmental delaysyndrome
: code 401764
PANDAS
: code 66624
Panhypophysitis
: code 95513
Panhypopituitarism
: code 90695
Panner disease
: code 97336
Panniculitis-induced localizedlipodystrophy
: code 90159
Pantothenate kinase-associatedneurodegeneration
: code 157850
PAP Reunion island type
: code 440427
PAPA syndrome
: code 69126
Papillary carcinoma of the cervixuteri
: code 213817
Papillary carcinoma of the corpusuteri
: code 213726
Papillary glioneuronal tumor
: code 251962
Papillary or follicular thyroidcarcinoma
: code 146
Papillary renal cell adenocarcinoma
: code 319298
Papillary renal cell carcinoma
: code 319298
Papillary tumor of the pineal region
: code 251915
Papillo-renal syndrome
: code 1475
Papilloma of choroid plexus
: code 2807
Papillon-Lage-Psaume syndrome
: code 2750
Papillon-Lefvre syndrome
: code 678
Papular atrichia
: code 86819
Papular elastorrhexis
: code 228264
Papular epidermal nevi with skylinebasal cell layers syndrome
: code 313936
Papular mucinosis of infancy
: code 90395
Papular xanthoma
: code 158008
Papulosis atrophican maligna
: code 679
Paracetamol poisoning
: code 464458
Parachute tricuspid valve
: code 99056
Paracoccidioidomycosis
: code 73260
Paraganglioma and gastric stromal
: code 97286
Paraganglioma-somatostatinoma-polycythemia syndrome
: code 324299
Parahemophilia
: code 326
Paramedian nasal cleft
: code 141242
Paramyotonia congenita
: code 684
Paramyotonia congenita of VonEulenburg
: code 684
Parana hard skin syndrome
: code 2812
Paraneoplastic Cushing syndrome
: code 99889
Paraneoplastic opsoclonus-myoclonus
: code 1183
Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
: code 1183
Paraneoplastic pemphigus
: code 63455
Paraneoplastic retinopathy
: code 71505
Paraneoplastic uveitis
: code 279928
Paraparetic variant of GBS
: code 231445
Paraparetic variant of Guillain-Barr syndrome
: code 231445
Paraplegia-intellectual disability-hyperkeratosis syndrome
: code 2824
Paraquat poisoning
: code 31827
Parastremmatic dwarfism
: code 2646
Paratesticular adenocarcinoma
: code 363478
Parathyroid carcinoma
: code 143
Paratyphoid fever
: code 443227
PARC syndrome
: code 2825
Parietal encephalocele
: code 268826
Parietal foramina with clavicularhypoplasia
: code 251290
Parietal foramina with cleidocranialdysplasia
: code 251290
Paris-Trousseau thrombocytopenia
: code 851
PARK9
: code 306674
PARK14
: code 199351
Parkes Weber syndrome
: code 90307
Parkinsonian-pyramidal syndrome
: code 171695
Parkinsonism due to ATP13A2deficiency
: code 314632
Parkinsonism with alveolar hypoventilation and mentaldepression
: code 178509
Parkinsonism with dementia ofGuadeloupe
: code 97355
Parkinsonism-dementia-ALScomplex
: code 90020
Paroxysmal cold hemoglobinuria
: code 90035
Paroxysmal dystonic choreathetosiswith episodic ataxia and spasticity
: code 53583
Paroxysmal exertion-induceddyskinesia
: code 98811
Paroxysmal extreme pain disorder
: code 46348
Paroxysmal hemicrania
: code 157835
Paroxysmal hypnagogic dyskinesia
: code 98784
Paroxysmal hypnagogic dystonia
: code 98784
Paroxysmal hypnogenic dyskinesia
: code 98784
Paroxysmal kinesigenicchoreathetosis
: code 98809
Paroxysmal kinesigenic dyskinesia
: code 98809
Paroxysmal kinesigenic dyskinesiaand infantile convulsions
: code 31709
Paroxysmal nocturnal dyskinesia
: code 98784
Paroxysmal nocturnalhemoglobinuria
: code 447
Paroxysmal non-kinesigenicdyskinesia
: code 98810
Paroxystic non-kinesigenicchoreoathetosis
: code 98810
Parry-Romberg syndrome
: code 1214
Partial 21q monosomy
: code 574
Partial agenesis of the pancreas
: code 2805
Partial albinism-immunodeficiencysyndrome
: code 381
Partial androgen insensitivitysyndrome
: code 90797
Partial androgen resistancesyndrome
: code 90797
Partial atrioventricular canal
: code 1330
Partial atrioventricular canal defect
: code 1330
Partial chromosome Y deletion
: code 1646
Partial corpus callosum agenesis- cerebellar vermis hypoplasia withposterior fossa cysts syndrome
: code 401959
Partial cryptophthalmia
: code 98950
Partial deep dermal and fullthickness burns
: code 90076
Partial deficiency ofmethylmalonyl-CoA mutase
: code 79312
Partial duplication of chromosome20p
: code 261318
Partial duplication of the short armof chromosome 20
: code 261318
Partial epilepsy with auditory aura
: code 101046
Partial epilepsy with auditoryfeatures
: code 101046
Partial facial palsy with urinaryabnormalities
: code 2704
Partial gigantism-nevi- hemihypertrophy-macrocephalysyndrome
: code 744
Partial hydatidiform mole
: code 254693
Partial LCAT deficiency
: code 79292
Partial mevalonate kinasedeficiency
: code 343
Partial molar pregnancy
: code 254693
Partial pancreatic agenesis
: code 2805
Partial septate uterus
: code 180129
Partial situs inversus
: code 157769
Partial trisomy of chromosome 20p
: code 261318
Partial trisomy of the short arm ofchromosome 20
: code 261318
Partially involuting congenitalhemangioma
: code 458785
Partington disease
: code 85453
Partington syndrome
: code 94083
Partington-Anderson syndrome
: code 193
Partington-Mulley syndrome
: code 94083
Parvovirus antenatal infection
: code 295
Pascual-Castroviejo syndrome type1
: code 1394
Pascual-Castroviejo syndrome type2
: code 42775
PASH syndrome
: code 289478
Pashayan syndrome
: code 1252
Pashayan-Prozansky syndrome
: code 1252
Passwell-Goodman-Siprkowskisyndrome
: code 2278
Patau syndrome
: code 3378
Patella aplasia-coxa vara-tarsalsynostosis syndrome
: code 1509
Patella aplasia/hypoplasia
: code 86789
Patent arterial duct-bicuspid aorticvalve-hand anomalies syndrome
: code 228190
Patent ductus arteriosus with facial dysmorphism and abnormal fifthdigits
: code 46627
Patent ductus arteriosus-bicuspid aortic valve-hand anomaliessyndrome
: code 228190
Patent urachus
: code 431341
Paternal 14q32.2 hypomethylationsyndrome
: code 254531
Paternal 14q32.2 microdeletionsyndrome
: code 254525
Paternal 20q13.2-q13.3microdeletion syndrome
: code 261304
Paternal 20q13.2q13.3microdeletion syndrome
: code 261304
Paternal del(14)(q32.2)
: code 254525
Paternal del(20)(q13.2q13.3)
: code 261304
Paternal monosomy 14q32.2
: code 254525
Paternal monosomy 20q13.2-q13.3
: code 261304
Paternal monosomy 20q13.2q13.3
: code 261304
Paternal uniparental disomy ofchromosome 1
: code 251004
Paternal uniparental disomy ofchromosome 5
: code 96190
Paternal uniparental disomy ofchromosome 6
: code 96191
Paternal uniparental disomy ofchromosome 7
: code 96192
Paternal uniparental disomy ofchromosome 13
: code 99324
Paternal uniparental disomy of
: code 96334
Paternal uniparental disomy ofchromosome 20
: code 96194
Paternal uniparental disomy ofchromosome 21
: code 96195
Paternal uniparental disomy ofchromosome X
: code 261524
Paternal UPD(20)
: code 96194
Patterson pseudoleprechaunismsyndrome
: code 2976
Patterson syndrome
: code 2976
Patterson-Stevenson syndrome
: code 2439
Patterson-Stevenson-Fontainesyndrome
: code 2439
PATX
: code 79136
Pauci-immune glomerulonephritis
: code 93126
Pauci-immune glomerulonephritiswith ANCA
: code 97563
Pauci-immune glomerulonephritis with antineutrophil cytoplasmicantibody
: code 97563
Pauci-immune glomerulonephritiswithout ANCA
: code 97564
Pauci-immune glomerulonephritis without antineutrophil cytoplasmicantibody
: code 97564
Pauciarticular chronic arthritis
: code 85410
Pauciarticular chronic arthritis withanti-nuclear antibodies
: code 247839
Pauciarticular chronic arthritiswithout anti-nuclear antibodies
: code 247846
PAVC
: code 1330
PAVM
: code 2038
PBC
: code 186
PBCRA
: code 75373
PBL
: code 289666
PC
: code 2309
PCA
: code 54247
PCARP
: code 88628
PCB variant of GBS
: code 231426
PCB variant of Guillain-Barrsyndrome
: code 231426
PCCA
: code 247198
PCD
: code 244
PCDLBCL LT
: code 178544
PCFCL
: code 178540
PCH
: code 90035
PCH1
: code 2254
PCH2
: code 2524
PCH3
: code 97249
PCH4
: code 166063
PCH5
: code 166068
PCH6
: code 166073
PCH7
: code 284339
PCH8
: code 324569
PCH9
: code 369920
PCH with optic atrophy
: code 97249
PCH without dyskinesia
: code 97249
PCH10
: code 411493
PCI deficiency
: code 71528
PCL
: code 454714
PCLD
: code 2924
PCMZL
: code 178536
PCNA-related progressive neurodegenerative photosensitivitysyndrome
: code 438134
PCNSL
: code 46135
PCNSV
: code 140989
PCT
: code 101330
PCWH
: code 163746
PDALS
: code 90020
PDCD
: code 293462
PDDRI
: code 289157
PDE4D haploinsufficiency syndrome
: code 439822
PDH
: code 765
PDH phosphatase deficiency
: code 79246
PDHAD
: code 79243
PDHBD
: code 255138
PDHC
: code 765
PDP
: code 2796
PDR
: code 85453
PDS
: code 75496
Pearson syndrome
: code 699
Pectus excavatum-macrocephaly-dysplastic nails syndrome
: code 2835
PED
: code 98811
Pediatric AIS
: code 439175
Pediatric arterial ischemic stroke
: code 439175
Pediatric autoimmune disorders associated with Streptococcusinfections
: code 66624
Pediatric autoimmune neuropsychiatric disorders associated with Streptococcusinfections
: code 66624
Pediatric Castleman disease
: code 93682
Pediatric collagenous gastritis
: code 487809
Pediatric HCC
: code 33402
Pediatric hepatocellular carcinoma
: code 33402
Pediatric multiple sclerosis
: code 477738
Pediatric systemic lupuserythematosus
: code 93552
Peeling skin syndrome type A
: code 263548
Peeling skin syndrome type B
: code 263553
Peeling skin syndrome type C
: code 263558
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knucklepads syndrome
: code 444138
PEHO syndrome
: code 2836
PEHO-like syndrome
: code 99807
PEL
: code 48686
Pelizaeus-Merzbacher brainsclerosis
: code 702
Pelizaeus-Merzbacher disease
: code 702
Pelizaeus-Merzbacher disease infemale carriers
: code 280229
Pelizaeus-Merzbacher disease typeII
: code 280210
Pelizaeus-Merzbacher disease classic form
: code 280219
Pelizaeus-Merzbacher disease connatal form
: code 280210
Pelizaeus-Merzbacher disease nullsyndrome
: code 280234
Pelizaeus-Merzbacher disease transitional form
: code 280224
Pelizaeus-Merzbacher-like disease
: code 280270
Pelizaeus-Merzbacher-like diseasedue to AIMP1 mutation
: code 280293
Pelizaeus-Merzbacher-like diseasedue to GJC2 mutation
: code 280282
Pelizaeus-Merzbacher-like diseasedue to HSPD1 mutation
: code 280288
Pellagra
: code 97352
Pellagra-like skin rash-neurologicalmanifestations syndrome
: code 220295
Pellucid marginal degeneration
: code 137672
Pelvic dysplasia-arthrogryposis oflower limbs syndrome
: code 2840
Pelvis-shoulder dysplasia
: code 2839
Pelviscapular dysplasia
: code 93333
Pemphigoid gestationis
: code 63275
Pemphigus erythematosus
: code 79480
Pemphigus foliaceus
: code 79481
Pemphigus vegetans
: code 79479
Pemphigus vulgaris
: code 704
Pena-Shokeir syndrome type 1
: code 994
Pena-Shokeir syndrome type 2
: code 1466
Pendred syndrome
: code 705
Penile adenocarcinoma
: code 398053
Penile agenesis
: code 49
Penile squamous cell carcinoma
: code 398058
Penis agenesis
: code 49
Penoscrotal transposition
: code 2842
PENS syndrome
: code 313936
Penta-X
: code 11
Pentalogy of Cantrell
: code 1335
Pentasomy X
: code 11
Pentosuria
: code 2843
PEO-myopathy-emaciationsyndrome
: code 352447
PEP syndrome
: code 2905
PEPCK deficiency
: code 2880
Perheentupa syndrome
: code 2576
Periarteritis nodosa
: code 767
Pericardial and diaphragmaticdefect
: code 2847
Pericardial constriction-growthfailure syndrome
: code 2576
Pericarditis-arthropathy-camptodactyly syndrome
: code 2848
Perinatal asphyxia
: code 137577
Perinatal hypoxia
: code 137577
Perinatal lethal bent bone dysplasia
: code 313855
Perinatal lethal Gaucher disease
: code 85212
Perinatal lethal hypophosphatasia
: code 247623
Perinatal lethalphosphoethanolaminuria
: code 247623
Perinatal lethal Rathburn disease
: code 247623
Perineal scrotal or penoscrotalhypospadias
: code 95706
Perineural cyst
: code 65250
Periodic disease
: code 342
Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
: code 42642
Periodic fever-infantile enterocolitis-autoinflammatorysyndrome
: code 436166
Periodic paralysis type 3
: code 682
Periodic paralysis with later-onsetdistal motor neuropathy
: code 397750
Periodic paralysis with transientcompartment-like syndrome
: code 397755
Periodic vestibulocerebellar ataxia
: code 79136
Perioral myoclonia with absences
: code 139426
Peripartum cardiomyopathy
: code 563
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburgsyndrome-Hirschsprung disease
: code 163746
Peripheral dysostosis
: code 1795
Peripheral fibroblastoma
: code 252164
Peripheral motor neuropathy-dysautonomia syndrome
: code 2400
Peripheral nerve hyperexcitability
: code 84142
Peripheral neuroectodermal cancerof cervix uteri
: code 213812
Peripheral neuroectodermal cancerof the corpus uteri
: code 213630
Peripheral neuropathy and opticatrophy
: code 90120
Peripheral neuropathy Fiskerstrandtype
: code 171848
Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
: code 397744
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
: code 397744
Peripheral PNET
: code 370348
Peripheral primitive
: code 370348
Peripheral pulmonary stenosis
: code 99084
Peripheral resistance to thyroidhormones
: code 97927
Peritoneal cystic mesothelioma
: code 168816
Periventricular leukomalacia
: code 171676
Periventricular nodular heterotopia
: code 98892
Perlman syndrome
: code 2849
PERM
: code 438266
Permanent neonatal diabetesmellitus
: code 99885
Permanent neonatal diabetes mellitus-pancreatic and cerebellaragenesis syndrome
: code 65288
Perniola-Krajewska-Carnevalesyndrome
: code 2850
Peroxisomal acyl-CoA oxidasedeficiency
: code 2971
Peroxisomal alanine-glyoxylateaminotransferase deficiency
: code 93598
Perrault syndrome
: code 2855
PERRS
: code 75374
Perry syndrome
: code 178509
Persistent eustachian valve
: code 99120
Persistent fetal vasculaturesyndrome
: code 91495
Persistent fifth aortic arch
: code 99076
Persistent hyperplastic primaryvitreous
: code 91495
Persistent idiopathic facial pain
: code 398147
Persistent left superior caval veinconnecting to the left-sided atrium
: code 99109
Persistent left superior vena cavaconnecting to the left-sided atrium
: code 99109
Persistent left SVC connecting tothe left-sided atrium
: code 99109
Persistent Mllerian derivatives
: code 2856
Persistent Mllerian duct syndrome
: code 2856
Persistent placoid maculopathy
: code 97341
Persistent polyclonal B-celllymphocytosis
: code 300324
Persistent polyclonal B-cell lymphocytosis with binucleatedlymphocytes
: code 300324
Perthes disease
: code 2380
Pertussis
: code 1489
Peters anomaly
: code 708
Peters anomaly with short limbdwarfism
: code 709
Peters anomaly-cataract syndrome
: code 101033
Peters congenital glaucoma
: code 708
Peters plus syndrome
: code 709
Petit-Fryns syndrome
: code 2776
Petty syndrome
: code 2963
Petty-Laxova-Wiedemann
: code 2963
Peutz-Jeghers syndrome
: code 2869
PFAPA syndrome
: code 42642
PFBC
: code 1980
PFCP
: code 90042
PFE
: code 412206
Pfeiffer syndrome
: code 710
Pfeiffer syndrome type 1
: code 93258
Pfeiffer syndrome type 2
: code 93259
Pfeiffer syndrome type 3
: code 93260
Pfeiffer-Kapferer syndrome
: code 3224
Pfeiffer-Mayer syndrome
: code 2921
Pfeiffer-Palm-Teller syndrome
: code 2871
Pfeiffer-Singer-Zschieschesyndrome
: code 2872
Pfeiffer-Weber-Christian syndrome
: code 33577
PFFD
: code 2019
PFIC
: code 172
PFIC1
: code 79306
PFIC2
: code 79304
PFIC3
: code 79305
PFIC4
: code 480483
PFIC5
: code 480476
PFVS
: code 91495
PGBM1
: code 397937
PGM1-CDG
: code 319646
PGM3-CDG
: code 443811
PGM3-related congenital disorderof glycosylation
: code 443811
PGNT
: code 251962
PHA
: code 1214
PHA2
: code 757
PHA2A
: code 88938
PHA2B
: code 88939
PHA2C
: code 88940
PHA2D
: code 300525
PHA2E
: code 300530
PHA type 1
: code 756
PHACE syndrome
: code 42775
Phacoallergic endophthalmitis
: code 209959
Phacoanaphylactic uveitis
: code 209959
Phacoantigenic endophthalmitis
: code 209959
PHAII
: code 757
Phako-anaphylacticendophthalmitis
: code 209959
Phakomatosis cesioflammea
: code 79483
Phakomatosis cesiomarmorata
: code 79484
Phakomatosis pigmentokeratotica
: code 2874
Phakomatosis pigmentovascularis
: code 2875
Phakomatosis pigmentovascularistype 2
: code 79483
Phakomatosis pigmentovascularistype 3
: code 79485
Phakomatosis pigmentovascularis
: code 79484
Phakomatosis spilorosea
: code 79485
Phalangeal microgeodic syndrome
: code 352636
Phalangeal osteolysis
: code 352636
PHARC syndrome
: code 171848
Pharyngeal-cervical-brachial variantof Guillain-Barr syndrome
: code 231426
Pharyngeal-cervical-brachialweakness
: code 231426
Pharyngo-cervico-brachial variantof GBS
: code 231426
Pharyngo-cervico-brachial variantof Guillain-Barr syndrome
: code 231426
PHAVER syndrome
: code 2876
PHD syndrome
: code 228410
Phelan-McDermid syndrome
: code 48652
Phenobarbital embryopathy
: code 1919
Phenotypic diarrhea
: code 84064
Phenylalanine hydroxylasedeficiency
: code 716
Phenylketonuria
: code 716
Phenylketonuria type 2
: code 226
Phenylketonuric embryopathy
: code 2209
Phenytoin embryofetopathy
: code 1912
PHID
: code 168569
Phlebectatic osteohypoplasticangiodysplasia
: code 75508
PHNED
: code 69084
Phocomelia Schinzel type
: code 2879
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
: code 2878
Phocomelia-thrombocytopenia- encephalocele-urogenitalmalformations syndrome
: code 3439
Phosphatidylinositol 4 5- biphosphate 5-phosphatasedeficiency
: code 534
Phosphoenolpyruvatecarboxykinase deficiency
: code 2880
Phosphoethanolaminuria
: code 436
Phosphoglucomutase 1 deficiency
: code 319646
Phosphoglucomutase-1 deficiency
: code 319646
Phospholipase A2-associatedneurodegeneration
: code 35069
Phosphomannomutase 2 deficiency
: code 79318
Phosphomannose isomerasedeficiency
: code 79319
Phosphoribosylpyrophosphatesynthetase superactivity
: code 3222
Phosphoserine aminotransferasedeficiency
: code 284417
Photosensitive epilepsy
: code 166409
PHPV
: code 91495
PHSH
: code 30924
Phyllodes tumor of the breast
: code 180261
Phyllodes tumor of the prostate
: code 498228
Phytanic-CoA hydroxylasedeficiency
: code 773
Phytosterolemia
: code 2882
PIBIDS syndrome
: code 33364
Piccardi-Lassueur-Little syndrome
: code 505
Piebald trait-neurologic defectssyndrome
: code 2885
Piebaldism
: code 2884
Piepkorn dysplasia
: code 1263
Pierpont syndrome
: code 487825
Pierquin syndrome
: code 1566
Pierre Robin sequence-congenitalheart defect-talipes syndrome
: code 2886
Pierre Robin sequence-faciodigitalanomaly syndrome
: code 2888
Pierre Robin sequence-fetalchondrodysplasia syndrome
: code 3450
Pierre Robin sequence- hyperphalangy-clinodactylysyndrome
: code 1388
Pierre Robin sequence-oligodactylysyndrome
: code 3104
Pierre Robin syndrome-congenitalheart defect-talipes syndrome
: code 2886
Pierre Robin syndrome-faciodigitalanomaly syndrome
: code 2888
Pierre Robin syndrome-fetalchondrodysplasia syndrome
: code 3450
Pierre Robin syndrome- hyperphalangy-clinodactylysyndrome
: code 1388
Pierson syndrome
: code 2670
PIFP
: code 398147
PIG
: code 217557
Pigeon-breeder lung disease
: code 99908
PIGG-CDG
: code 488635
PIGL-CDG
: code 3474
PIGM-CDG
: code 83639
Pigment anomaly-ectrodactyly-hypodontia syndrome
: code 978
Pigmentary disorder with hearingloss
: code 999
Pigmentary hairy epidermal nevus
: code 64755
Pigmentary mosaicism Ito type
: code 435
Pigmentary orthochromaticleukodystrophy
: code 313808
Pigmentary retinopathy-intellectualdisability syndrome
: code 193
Pigmentation defects-palmoplantar keratoderma-skin carcinomasyndrome
: code 447961
Pigmented hypertrichosis with insulin-dependent diabetes mellitussyndrome
: code 168569
Pigmented paravenousretinochoroidal atrophy
: code 251295
Pigmented villonodular synovitis
: code 66627
PIGN-CDG
: code 280633
PIGT-CDG
: code 369837
PIHL
: code 480506
Pili annulati
: code 169
Pili bifurcati
: code 720
Pili gemini
: code 79492
Pili multigemini
: code 79492
Pili torti
: code 2889
Pili torti-developmental delay- neurological abnormalitiessyndrome
: code 2891
Pili torti-onychodysplasia syndrome
: code 2890
Pili trianguli et canaliculi
: code 1410
Pillay syndrome
: code 2741
Pilocytic astrocytoma
: code 251612
Pilodental dysplasia-refractiveerrors syndrome
: code 2892
Pilomatricoma
: code 91414
Pilomatrix carcinoma
: code 499182
Pilomatrix dysplasia
: code 228379
Pilomatrixoma
: code 91414
Pilomyxoid astrocytoma
: code 251615
Pilotto syndrome
: code 2894
Pineal parenchymal tumor ofintermediate differenciation
: code 251919
Pineoblastoma
: code 251909
Pineocytoma
: code 251912
Pingelapese blindness
: code 49382
Pinheiro-Freire Maia-Mirandasyndrome
: code 3353
Pink disease
: code 247165
Pinnae fistula or cyst
: code 155838
Pinsky-Di George-Harley syndrome
: code 2510
PIOL
: code 279904
Pipecolic acidemia
: code 79189
Pitt-Hopkins syndrome
: code 2896
Pitt-Hopkins-like syndrome
: code 221150
Pitt-Rogers-Danks syndrome
: code 280
Pitt-Williams brachydactyly
: code 93395
Pituicytoma
: code 251623
Pituitary apoplexy
: code 95613
Pituitary carcinoma
: code 300385
Pituitary corticotroph micro-adenoma
: code 96253
Pituitary deficiency due to emptysella turcica syndrome
: code 91354
Pituitary deficiency due to Rathke’scleft cysts
: code 91350
Pituitary dermoid and epidermoidcysts
: code 91351
Pituitary gigantism
: code 99725
Pituitary lactotrophic adenoma
: code 2965
Pituitary resistance to thyroidhormone
: code 165994
Pituitary stalk interruptionsyndrome
: code 95496
Pituitary thyrotrophic adenoma
: code 91347
Pituitary-dependent Cushingsyndrome
: code 96253
Pityriasis rubra pilaris
: code 2897
Piussan-Lenaerts-Mathieusyndrome
: code 1078
PJS
: code 2869
PKAN
: code 157850
PKAN atypical form
: code 216873
PKAN classic form
: code 216866
PKDYS
: code 238455
PKU
: code 716
PKU type 2
: code 226
PLA2G4A-related plateletdysfunction
: code 477787
PLA2G6-related dystonia-parkinsonism
: code 199351
Placental insufficiency
: code 439167
Placental site trophoblastic tumor
: code 99928
Placental site trophoblastic tumor
: code 99928
PLACK syndrome
: code 444138
Plague
: code 707
PLAID
: code 300359
Plamoplantar hyperkeratosisnummularis
: code 79141
Plamoplantar keratodermanummularis
: code 79141
PLAN
: code 35069
Plantar fibromatosis
: code 199251
Plantar flexion contracture
: code 251515
Plantar lipomatosis-facial dysmorphism-developmental delaysyndrome
: code 487825
Plantar lipomatosis-unusual facies-developmental delay syndrome
: code 487825
Plaque-form urticaria pigmentosa
: code 158769
Plasma cell leukemia
: code 454714
Plasma cell myeloma
: code 29073
Plasma thromboplastin antecedentdeficiency
: code 329
Plasmablastic lymphoma
: code 289666
Plasmacytoma
: code 86855
Plasminogen deficiency type 1
: code 722
Plastic bronchitis
: code 439881
Platelet alpha-granule deficiency
: code 721
Platelet dysfunction due to cytosolic phospholipase-A2 alphadeficiency
: code 477787
Platelet type-von Willebranddisease
: code 52530
Platinum oculocutaneous albinism
: code 79434
Platyspondylic dysplasia Torrancetype
: code 85166
Platyspondylic dysplasia Torrance-Luton type
: code 85166
Platyspondylic lethal skeletaldysplasia Torrance type
: code 85166
Platyspondyly-amelogenesisimperfecta syndrome
: code 2899
PLCG2-associated antibody deficiency and immunedysregulation
: code 300359
PLCNA
: code 137810
Pleomorphic liposarcoma
: code 99969
Pleomorphic rhabdomyosarcoma
: code 293199
Pleomorphic salivary glandadenoma
: code 454821
Pleomorphic xanthoastrocytoma
: code 251607
Pleural empyema
: code 449266
Pleural mesothelioma
: code 50251
Pleuro-pericardial cyst
: code 99131
Pleuro-pulmonary blastoma familialtumor susceptibility syndrome
: code 284343
Pleuropulmonary blastoma
: code 64742
Pleuropulmonary blastoma familialtumor susceptibility syndrome
: code 284343
Pleuropulmonary blastoma type 1
: code 99933
Pleuropulmonary blastoma type 2
: code 99934
Pleuropulmonary blastoma type 3
: code 99935
PLIN1-related familial partiallipodystrophy
: code 280356
PLIN1-related FPLD
: code 280356
PLO-SL
: code 2770
PLOSL
: code 2770
Plott syndrome
: code 2375
PLP1 null syndrome
: code 280234
PLS
: code 678
PLS
: code 35689
PLS
: code 99969
PLSD-T
: code 85166
Plumbism
: code 330015
Plummer-Vinson syndrome
: code 54028
PM
: code 732
PM
: code 764
PMA
: code 454706
PMD
: code 702
PMDS
: code 2856
PME type 1
: code 308
PME type 2
: code 501
PME type 3
: code 263516
PME type 5
: code 402082
PME type 6
: code 280620
PME type 7
: code 435438
PME type 8
: code 424027
PME type 9
: code 457265
PMED
: code 352596
PML
: code 217260
PMLD
: code 280270
PMLD1
: code 280282
PMM2-CDG
: code 79318
PMP
: code 26790
PMP2-related Charcot-Marie-Toothdisease type 1
: code 476394
PMP2-related Charcot-Marie-Toothneuropathy type 1
: code 476394
PMP2-related CMT1
: code 476394
PMP2-related hereditary motor andsensory neuropathy type 1
: code 476394
PMP22-RAI1 contiguous geneduplication syndrome
: code 477817
PMSE syndrome
: code 500533
PNDM
: code 99885
Pneumoblastoma
: code 64741
Pneumococcal meningitis
: code 55655
Pneumocystosis
: code 723
Pneumonia caused byPseudomonas aeruginosa infection
: code 90066
PNH
: code 447
PNP deficiency
: code 760
PNPase deficiency
: code 760
PNPO deficiency
: code 79096
PNPO-related neonatal epilepticencephalopathy
: code 79096
POADS
: code 246
POEMS syndrome
: code 2905
POH
: code 2762
Poikiloderma of Kindler
: code 2908
Poikiloderma of Rothmund-Thomson
: code 2909
Poikiloderma of Rothmund-Thomson type 1
: code 221008
Poikiloderma of Rothmund-Thomson type 2
: code 221016
Poikiloderma with neutropenia
: code 221046
Poikiloderma with neutropenia Clericuzio type
: code 221046
Poikiloderma-alopecia- retrognathism-cleft palatesyndrome
: code 2825
POIKTMP syndrome
: code 221043
POIS
: code 279947
Pokkuri death syndrome
: code 130
Poland anomaly
: code 2911
Poland sequence
: code 2911
Poland syndrome
: code 2911
POLD
: code 313808
Poliomyelitis
: code 2912
Poliomyelitis in patients withimmunodeficiencies deemed at risk
: code 330009
Pollitt syndrome
: code 33364
Poly-X
: code 11
Polyarteritis nodosa
: code 767
Polyarthritis enterica
: code 29207
Polyarthritis with rheumatoidfactor
: code 85435
Polyarthritis without rheumatoidfactor
: code 85408
Polyarthritis without rheumatoidfactor with anti-nuclear antibodies
: code 247854
Polyarthritis without rheumatoid factor without anti-nuclearantibodies
: code 247861
Polyclonal hyperviscosity syndrome
: code 450322
Polycystic lipomembranous osteodysplasia with sclerosingleukoencephalopathy
: code 2770
Polycystic ovaries-urethralsphincter dysfunction syndrome
: code 2795
Polycythemia rubra vera
: code 729
Polycythemia vera
: code 729
Polydactyly of a biphalangealthumb
: code 93339
Polydactyly of a triphalangealthumb
: code 93336
Polydactyly of an index finger
: code 93337
Polydactyly postaxial with mediancleft of upper lip
: code 2919
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
: code 2754
Polydactyly-myopia syndrome
: code 2917
Polyembryoma
: code 180229
Polyendocrine-polyneuropathysyndrome
: code 453533
Polyepiphyseal dysplasia type 1
: code 93308
Polyepiphyseal dysplasia type 4
: code 93307
Polyepiphyseal dysplasia type 5
: code 93311
Polyglucosan body myopathy type1
: code 397937
Polyglucosan body myopathy type2
: code 456369
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
: code 500533
Polymastia
: code 180182
Polymerase proofreading-relatedadenomatous polyposis
: code 447877
Polymicrogyria due to TUBB2Bmutation
: code 300573
Polymicrogyria with optic nervehypoplasia
: code 250972
Polymorphic eruption of pregnancy
: code 64745
Polymorphic vitelline maculardegeneration
: code 1243
Polymyalgia rheumatica
: code 93569
Polymyositis
: code 732
Polyneuropathy associated with
: code 639
Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome
: code 2905
Polyneuropathy-hand defectsyndrome
: code 2926
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
: code 171848
Polyneuropathy-intellectual disability-acromicria-prematuremenopause syndrome
: code 2928
Polyostotic fibrous dysplasia
: code 93276
Polypoid prolapsing folds
: code 160148
Polyps and spots syndrome
: code 2869
Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without knownantibodies
: code 208981
Polyrhinia
: code 141091
Polyrrhinia
: code 141091
Polysyndactyly
: code 93338
Polysyndactyly Haas type
: code 93405
Polysyndactyly-cardiacmalformation syndrome
: code 2934
Polyvalvular heart diseasesyndrome
: code 228410
POMA
: code 139426
POMA syndrome
: code 1183
POMC deficiency
: code 71526
Pompe disease
: code 365
Pompe disease infantile onset
: code 308552
Pompe disease late-onset
: code 420429
Pontiac fever
: code 99748
Pontine autosomal dominant microangiopathy withleukoencephalopathy
: code 477749
Pontine tegmental cap dysplasia
: code 269229
Pontocerebellar hypoplasia due toCHMP1A mutation
: code 324569
Pontocerebellar hypoplasia type 1
: code 2254
Pontocerebellar hypoplasia type 2
: code 2524
Pontocerebellar hypoplasia type 3
: code 97249
Pontocerebellar hypoplasia type 4
: code 166063
Pontocerebellar hypoplasia type 5
: code 166068
Pontocerebellar hypoplasia type 6
: code 166073
Pontocerebellar hypoplasia type 7
: code 284339
Pontocerebellar hypoplasia type 8
: code 324569
Pontocerebellar hypoplasia type 9
: code 369920
Pontocerebellar hypoplasia type 10
: code 411493
Pontocerebellar hypoplasia-46 XY disorder of sex developmentsyndrome
: code 284339
Poorly differentiatedneuroendocrine carcinoma of the
: code 284400
Poorly differentiated neuroendocrine carcinoma of thecervix uteri
: code 213777
Poorly differentiated neuroendocrine carcinoma of thecorpus uteri
: code 213731
Poorly differentiated neuroendocrine carcinoma of theendometrium
: code 213731
Poorly differentiatedneuroendocrine cervical carcinoma
: code 213777
Poorly differentiated thymicneuroendocrine carcinoma
: code 263339
Poorly-differentiated NEN ofpancreas
: code 506098
Poorly-differentiated neuroendocrine neoplasm ofpancreas
: code 506098
Poorly-differentiated pancreaticNEN
: code 506098
Poorly-differentiated pancreaticneuroendocrine neoplasm
: code 506098
Popliteal web syndrome
: code 1300
POR deficiency
: code 95699
Porak and Durante disease
: code 666
PORD
: code 95699
Porencephaly
: code 2940
Porencephaly-cerebellar hypoplasia-internal malformationssyndrome
: code 2941
Porencephaly-microcephaly- bilateral congenital cataractsyndrome
: code 306547
Poretti-Boltshauser syndrome
: code 370022
Porokeratosis of Mibelli
: code 735
Porokeratosis plantaris palmaris etdisseminata
: code 737
Porokeratotic eccrine nevus
: code 166286
Porokeratotic eccrine ostial anddermal duct nevus
: code 166286
Porphyria cutanea tarda
: code 101330
Porphyria cutanea tarda type I
: code 443057
Porphyria cutanea tarda type II
: code 443062
Porphyria due to ALA dehydratasedeficiency
: code 100924
Porphyria due to ALAD deficiency
: code 100924
Porphyria due to delta- aminolevulinate dehydratasedeficiency
: code 100924
Porphyria of Doss
: code 100924
Porphyria variegata
: code 79473
Port-wine nevi-mega cisternamagna-hydrocephalus syndrome
: code 2703
Post-transplant lymphoproliferativedisease
: code 70568
Postanginal sepsis secondary toorophyngeal infection
: code 137839
Postaxial acrodysostosis
: code 246
Postaxial acrofacial dysostosis
: code 246
Postaxial polydactyly type A
: code 93334
Postaxial polydactyly type B
: code 93335
Postaxial polydactyly-anterior pituitary anomalies-facialdysmorphism syndrome
: code 420584
Postaxial polydactyly-dental andvertebral anomalies syndrome
: code 2916
Postaxial polydactyly-intellectualdisability syndrome
: code 2920
Postaxial syndactyly withmetacarpal synostosis
: code 93406
Postaxial tetramelic oligodactyly
: code 2730
Postcardiotomy right ventricularfailure
: code 263352
Postencephalitic parkinsonism
: code 97349
Posterior amorphous cornealdystrophy
: code 98971
Posterior amorphous stromaldystrophy
: code 98971
Posterior column ataxia-retinitispigmentosa syndrome
: code 88628
Posterior cortical atrophy
: code 54247
Posterior fusion of lumbosacralvertebrae-blepharoptosis syndrome
: code 2064
Posterior hypospadias
: code 95706
Posterior meningocele
: code 268810
Posterior polymorphous cornealdystrophy
: code 98973
Posterior polymorphous dystrophy
: code 98973
Posterior urethral valve
: code 93110
Postinfectious vasculitis
: code 48435
Postlingual non-syndromic geneticdeafness
: code 216452
Postnatal microcephaly-infantile hypotonia-spastic diplegia- dysarthria-intellectual disabilitysyndrome
: code 477673
Postorgasmic illness syndrome
: code 279947
Postpartum cardiomyopathy
: code 563
Postpartum psychosis
: code 443173
Postpolio sequelae
: code 2942
Postpolio syndrome
: code 2942
Postpoliomyelitic syndrome
: code 2942
Postpoliomyelitis sequelae
: code 2942
Postpoliomyelitis syndrome
: code 2942
Postsynaptic congenital myasthenicsyndromes
: code 98913
Posttransplant acute limbicencephalitis
: code 163921
Postural tachycardia syndrome dueto NET deficiency
: code 443236
POT
: code 238606
Potassium-sensitive normokalemicperiodic paralysis
: code 682
Potato-grubbing palsy
: code 640
Potocki-Lupski syndrome
: code 1713
Potocki-Shaffer syndrome
: code 52022
Potter sequence-cleft lip/palate-cardiopathy syndrome
: code 3316
Pouchitis
: code 217067
Powell-Chandra-Saal syndrome
: code 2876
Powell-Venencie-Gordon syndrome
: code 2201
PPAOS
: code 314566
PPAP
: code 447877
PPARG-related familial partiallipodystrophy
: code 79083
PPARG-related FPLD
: code 79083
PPB familial tumor susceptibilitysyndrome
: code 284343
PPBFTDS
: code 284343
PPBL
: code 300324
PPC
: code 168829
PPCD
: code 98973
PPD1
: code 93339
PPD2
: code 93336
PPD3
: code 93337
PPD4
: code 93338
PPFG
: code 75567
PPI-REE
: code 411696
PPI-responsive esophagealeosinophilia
: code 411696
PPIRee
: code 411696
PPK mutilans and deafness
: code 494
PPK nummularis
: code 79141
PPK Gamborg-Nielsen type
: code 86923
PPK Nagashima type
: code 140966
PPK-CA Stevanovic type
: code 1010
PPK-CA Wallis type
: code 1366
PPK-deafness syndrome
: code 2202
PPKP1
: code 79501
PPKP2
: code 79502
PPKP3
: code 38
PPKP3 without elastoidosis
: code 308013
PPM-X
: code 3077
PPNAD
: code 189439
PPNET
: code 370348
PPoma
: code 97278
PPP
: code 163927
PPPK3 without elastoidosis
: code 308013
PPPP
: code 79502
PPRCA
: code 251295
PPSPC
: code 398980
PRAAS
: code 324977
Prader-Labhart-Willi syndrome
: code 739
Prader-Willi habitus-osteopenia-
: code 3409
Prader-Willi syndrome
: code 739
Prader-Willi syndrome due to apoint mutation
: code 398069
Prader-Willi syndrome due toimprinting mutation
: code 177910
Prader-Willi syndrome due to maternal uniparental disomy ofchromosome 15
: code 98754
Prader-Willi syndrome due topaternal 15q11q13 deletion
: code 98793
Prader-Willi syndrome due to paternal deletion of 15q11q13 type1
: code 177901
Prader-Willi syndrome due to paternal deletion of 15q11q13 type2
: code 177904
Prader-Willi syndrome due totranslocation
: code 177907
Prader-Willi-like syndrome
: code 398073
Prader-Willi-like syndrome due to apoint mutation
: code 398079
Prader-Willi-like syndrome due todeletion 6q16
: code 171829
Prata-Liberal-Goncalves syndrome
: code 2956
Pre-Descemet corneal dystrophy
: code 293462
Preaxial acrodysostosis
: code 245
Preaxial deficiency-postaxialpolydactyly-hypospadias syndrome
: code 2957
Preaxial polydactyly type 1
: code 93339
Preaxial polydactyly type 2
: code 93336
Preaxial polydactyly type 3
: code 93337
Preaxial polydactyly type 4
: code 93338
Preaxial polydactyly-colobomata-intellectual disability syndrome
: code 2921
Precalicial canalicular ectasia
: code 1309
Precursor B-cell acutelymphoblastic leukemia
: code 99860
Precursor B-cell acutelymphoblastic leukemia/lymphoma
: code 99860
Precursor B-cell acute lymphocyticleukemia
: code 99860
Precursor B-cell acute lymphocyticleukemia/lymphoma
: code 99860
Precursor T-cell acutelymphoblastic leukemia
: code 99861
Precursor T-cell acutelymphoblastic leukemia/lymphoma
: code 99861
Precursor T-cell acute lymphocyticleukemia
: code 99861
Precursor T-cell acute lymphocyticleukemia/lymphoma
: code 99861
Predisposition to adult-onset myeloproliferative neoplasm due to14q32 duplication
: code 488280
Predisposition to invasive fungal
: code 457088
Preeclampsia
: code 275555
Pregnancy-related cholestasis
: code 69665
Prelingual non-syndromic geneticdeafness
: code 216445
Premature aging appearance- developmental delay-cardiacarrhythmia syndrome
: code 276432
Premature aging syndrome Penttinen type
: code 363665
Premature chromosome condensation with microcephalyand intellectual disability
: code 2512
Premature closure of the arterialduct
: code 95486
Premature closure of the patentductus arteriosus
: code 95486
Premature degenerativeosteoarthropathy of the hip
: code 2114
Prenatal benign hypophosphatasia
: code 247638
Prenatal benignphosphoethanolaminuria
: code 247638
Prenatal benign Rathburn disease
: code 247638
Prenatal-onset spinal muscular atrophy with congenital bonefractures
: code 486811
Pressure-induced localizedlipoatrophy
: code 90160
Presynaptic congenital myasthenicsyndromes
: code 98914
Pretibial DEB
: code 79410
Pretibial dystrophic epidermolysisbullosa
: code 79410
Prieto-Badia-Mulas syndrome
: code 2958
Prieur-Griscelli syndrome
: code 1451
Primary acalvaria
: code 945
Primary achalasia
: code 930
Primary acquired sideroblasticanemia
: code 75564
Primary Addison’s disease
: code 85138
Primary adrenal insufficiency- steroid-resistant nephroticsyndrome due to SGPL1 deficiency
: code 506334
Primary adult heart tumor
: code 874
Primary amyloidosis
: code 85443
Primary anetoderma
: code 228272
Primary angiitis of the centralnervous system
: code 140989
Primary antibody deficiency
: code 1572
Primary basilar invagination
: code 2285
Primary bilateral macronodularadrenal hyperplasia
: code 189427
Primary biliary cholangitis
: code 186
Primary biliary cirrhosis
: code 186
Primary biliary cirrhosis and
: code 779
Primary bone lymphoma
: code 314684
Primary brain lymphoma
: code 46135
Primary C-ALCL
: code 300865
Primary calpainopathy
: code 267
Primary CD59 deficiency
: code 169464
Primary central nervous systemlymphoma
: code 46135
Primary central nervous systemvasculitis
: code 140989
Primary ciliary dyskinesia
: code 244
Primary ciliary dyskinesia Kartagener type
: code 244
Primary ciliary dyskinesia-retinitispigmentosa syndrome
: code 247522
Primary CNS lymphoma
: code 46135
Primary condylar hyperplasia
: code 477781
Primary congenital erythrocytosis
: code 90042
Primary congenital glaucoma
: code 98976
Primary cryoglobulinemia
: code 91138
Primary cutaneous aggressive epidermotropic CD8+ T-celllymphoma
: code 178528
Primary cutaneous anaplastic largecell lymphoma
: code 300865
Primary cutaneous CD4+small/medium-sized pleomorphic T- cell lymphoma
: code 178522
Primary cutaneous diffuse large B-cell lymphoma leg type
: code 178544
Primary cutaneous epidermotropiccytotoxic CD8+ T-cell lymphoma
: code 178528
Primary cutaneous follicle centerlymphoma
: code 178540
Primary cutaneous gamma/delta-positive T-cell lymphoma
: code 178533
Primary cutaneous marginal zone B-cell lymphoma
: code 178536
Primary cutaneous peripheral T-celllymphoma NOS
: code 86885
Primary cutaneous peripheral T-celllymphoma not otherwise specified
: code 86885
Primary cutaneous plasmacytosis
: code 451602
Primary cutaneous unspecifiedperipheral T-cell lymphoma
: code 86885
Primary dystonia with mixedphenotype
: code 98807
Primary dystonia DYT2 type
: code 99657
Primary dystonia DYT4 type
: code 98805
Primary dystonia DYT6 type
: code 98806
Primary dystonia DYT13 type
: code 98807
Primary dystonia DYT17 type
: code 370103
Primary dystonia DYT21 type
: code 306734
Primary dystonia DYT27 type
: code 464440
Primary effusion lymphoma
: code 48686
Primary erythermalgia
: code 90026
Primary essential cutis verticisgyrata
: code 357220
Primary failure of tooth eruption
: code 412206
Primary familial amyloidosis of thecornea
: code 98957
Primary familial and congenitalpolycythemia
: code 90042
Primary familial brain calcification
: code 1980
Primary familial polycythemia
: code 90042
Primary Fanconi renotubularsyndrome
: code 3337
Primary Fanconi syndrome
: code 3337
Primary GH insensitivity
: code 633
Primary GH resistance
: code 633
Primary growth hormoneinsensitivity
: code 633
Primary growth hormone resistance
: code 633
Primary hepatic neuroendocrinecarcinoma
: code 100085
Primary hepatolithiasis
: code 480506
Primary HES
: code 314950
Primary hypereosinophilicsyndrome
: code 314950
Primary hypergonadotropic hypogonadism-partial alopeciasyndrome
: code 2232
Primary hyperkalemic periodicparalysis
: code 682
Primary hyperoxaluria
: code 416
Primary hyperoxaluria type 1
: code 93598
Primary hyperoxaluria type 2
: code 93599
Primary hyperoxaluria type 3
: code 93600
Primary hyperPP
: code 682
Primary hypersomnia
: code 33208
Primary hypogammaglobulinemia
: code 1572
Primary hypomagnesemia withsecondary hypocalcemia
: code 30924
Primary immunodeficiency due toMCM4 deficiency
: code 75391
Primary immunodeficiencysyndrome due to p14 deficiency
: code 90023
Primary immunodeficiencysyndrome with short stature
: code 90023
Primary immunodeficiency with multifaceted aberrant lymphoidimmunity
: code 447731
Primary immunodeficiency with natural-killer cell deficiency andadrenal insufficiency
: code 75391
Primary immunodeficiency with post-measles-mumps-rubellavaccine viral infection
: code 431166
Primary immunodeficiency withpost-MMR vaccine viral infection
: code 431166
Primary insulin-like growth factordeficiency
: code 73272
Primary intestinal lymphangiectasia
: code 90362
Primary intrahepatic lithiasis
: code 480506
Primary intralymphaticangioendothelioma
: code 458768
Primary intraocular lymphoma
: code 279904
Primary intraocular non-Hodgkin’slymphoma
: code 279904
Primary intraosseous venousmalformation
: code 140436
Primary laryngeal lymphangioma
: code 137926
Primary lateral sclerosis
: code 35689
Primary localized amyloidosis
: code 314709
Primary localized cutaneousnodular amyloidosis
: code 137810
Primary lymphoid conjunctivaltumor
: code 319667
Primary lymphoma of theconjunctiva
: code 319667
Primary macular atrophy
: code 228272
Primary malignant peritonealmesothelioma
: code 168811
Primary mediastinal clear celllymphoma of B-cell type
: code 98838
Primary mediastinal large B-celllymphoma
: code 98838
Primary megaureter adult-onsetform
: code 238642
Primary melanoma of the centralnervous system
: code 252050
Primary melanoma of the CNS
: code 252050
Primary membranoproliferativeglomerulonephritis
: code 54370
Primary microcephaly-epilepsy- permanent neonatal diabetessyndrome
: code 306558
Primary microcephaly-mild intellectual disability-young-onsetdiabetes syndrome
: code 391408
Primary myelofibrosis
: code 824
Primary non-essential cutis verticisgyrata
: code 357225
Primary non-gestationalchoriocarcinoma of ovary
: code 289356
Primary non-gestational ovarianchoriocarcinoma
: code 289356
Primary oculocerebral lymphoma
: code 279897
Primary oculocerebral non-Hodgkinlymphoma
: code 279897
Primary orthostatic tremor
: code 238606
Primary PAN
: code 439737
Primary parathyroid hyperplasia
: code 99878
Primary pediatric heart tumor
: code 875
Primary periarteritis nodosa
: code 439737
Primary peritoneal carcinoma
: code 168829
Primary peritoneal serouscarcinoma
: code 168829
Primary peritoneal serous/papillarycarcinoma
: code 398980
Primary pigmented nodular adrenaldysplasia
: code 189439
Primary pigmented nodularadrenocortical disease
: code 189439
Primary plasmacytoma of the bone
: code 100021
Primary polyarteritis nodosa
: code 439737
Primary progressive apraxia ofspeech
: code 314566
Primary progressive freezing gait
: code 75567
Primary pulmonary arterialhypertension
: code 275766
Primary pulmonary hypoplasia
: code 2257
Primary pulmonary lymphoma
: code 2420
Primary renal tubular hypokalemic hypomagnesemia withhypocalciuria
: code 358
Primary retention of teeth
: code 412206
Primary sclerosing cholangitis
: code 171
Primary Sjgren syndrome
: code 289390
Primary Sjgren-Gougerotsyndrome
: code 289390
Primary syringomyelia
: code 99856
Primary systemic ALCL
: code 98841
Primary systemic amyloidosis
: code 314701
Primary tethered cord syndrome
: code 268861
Primary tethered spinal cordsyndrome
: code 268861
Primary thymic epithelial neoplasm
: code 99867
Primary thymic epithelial neoplasmtype A
: code 263310
Primary thymic epithelial neoplasmtype AB
: code 263324
Primary thymic epithelial neoplasmtype B
: code 263317
Primary thymic epithelial tumor
: code 99867
Primary thymic epithelial tumortype A
: code 263310
Primary thymic epithelial tumortype AB
: code 263324
Primary thymic epithelial tumortype B
: code 263317
Primary torsion dystonia with predominant craniocervical orupper limb onset
: code 98807
Primary unilateral adrenalhyperplasia
: code 231580
Primary vasculitis of the centralnervous system
: code 140989
Primitive neuroectodermal tumorof the cervix uteri
: code 213812
Primitive neuroectodermal tumorof the corpus uteri
: code 213630
Primitive portal vein thrombosis
: code 854
Primitive renal tubule syndrome
: code 3033
Primordial microcephalic dwarfism Crachami type
: code 2636
Primordial short stature- microdontia-opalescent androotless teeth syndrome
: code 2637
Primrose syndrome
: code 3042
Prion protein systemic amyloidosis
: code 397606
PRKAR1B-related neurodegenerative dementia withintermediate filaments
: code 412066
PRL-secreting pituitary adenoma
: code 2965
PRLoma
: code 2965
Proaccelerin deficiency
: code 326
Proboscis lateralis
: code 141099
Progeria
: code 740
Progeria-associated arthropathy
: code 99706
Progeria-short stature-pigmentednevi syndrome
: code 2959
Progeroid and marfanoid aspect-lipodystrophy syndrome
: code 300382
Progeroid features-hepatocellularcarcinoma predisposition syndrome
: code 435953
Progeroid syndrome De Barsy type
: code 2962
Progeroid syndrome Petty type
: code 2963
Progressive arterial occlusive disease-hypertension-heart defects- bone fragility-brachysyndactylysyndrome
: code 79094
Progressive autosomal recessiveataxia-deafness syndrome
: code 448251
Progressive autosomal recessive ataxia-sensorineural hearing losssyndrome
: code 448251
Progressive bifocal chorioretinalatrophy
: code 75373
Progressive bulbar palsy ofchildhood
: code 97229
Progressive bulbar paralysis ofchildhood
: code 97229
Progressive cavitatingleukoencephalopathy
: code 139447
Progressive cephalothoraciclipodystrophy
: code 79087
Progressive cerebello-cerebralatrophy
: code 247198
Progressive cone dystrophy
: code 1871
Progressive cutaneous systemicscleroderma
: code 220393
Progressive cutaneous systemicsclerosis
: code 220393
Progressive deafness with stapesfixation
: code 3235
Progressive deforming osteogenesisimperfecta
: code 216812
Progressive diaphyseal dysplasia
: code 1328
Progressive diffuse palmoplantarkeratoderma
: code 495
Progressive diffuse PPK
: code 495
Progressive encephalomyelitis withrigidity and myoclonus
: code 438266
Progressive encephalopathy with edema hypsarrhythmia and opticatrophy
: code 2836
Progressive encephalopathy with leukodystrophy due to DECRdeficiency
: code 431361
Progressive encephalopathy withsevere infantile anorexia
: code 99852
Progressive encephalopathy-opticatrophy syndrome
: code 2836
Progressive epilepsy-intellectualdisability syndrome Finnish type
: code 1947
Progressive essential tremor- speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
: code 457212
Progressive externalophthalmoplegia and scoliosis
: code 2744
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
: code 352447
Progressive facial hemiatrophy
: code 1214
Progressive familial intrahepaticcholestasis
: code 172
Progressive familial intrahepaticcholestasis type 1
: code 79306
Progressive familial intrahepaticcholestasis type 2
: code 79304
Progressive familial intrahepaticcholestasis type 3
: code 79305
Progressive familial intrahepaticcholestasis type 4
: code 480483
Progressive familial intrahepaticcholestasis type 5
: code 480476
Progressive foveal dystrophy
: code 75327
Progressive hemifacial atrophy
: code 1214
Progressive isolated segmentalanhidrosis
: code 199282
Progressive massive osteolysis
: code 73
Progressive microcephaly-seizures- cortical blindness-developmentaldelay syndrome
: code 477814
Progressive multifocalleukoencephalitis
: code 217260
Progressive multifocalleukoencephalopathy
: code 217260
Progressive muscular atrophy
: code 454706
Progressive myoclonic epilepsy due
: code 424027
Progressive myoclonic epilepsy dueto KCTD7 deficiency
: code 263516
Progressive myoclonic epilepsy dueto KV3.1 deficiency
: code 435438
Progressive myoclonic epilepsy dueto LMNB2 deficiency
: code 457265
Progressive myoclonic epilepsy type1
: code 308
Progressive myoclonic epilepsy type2
: code 501
Progressive myoclonic epilepsy type3
: code 263516
Progressive myoclonic epilepsy type4
: code 163696
Progressive myoclonic epilepsy type5
: code 402082
Progressive myoclonic epilepsy type6
: code 280620
Progressive myoclonic epilepsy type7
: code 435438
Progressive myoclonic epilepsy type8
: code 424027
Progressive myoclonic epilepsy type9
: code 457265
Progressive myoclonic epilepsywith dystonia
: code 352596
Progressive myoclonus epilepsytype 1
: code 308
Progressive myoclonus epilepsytype 2
: code 501
Progressive myoclonus epilepsytype 3
: code 263516
Progressive myoclonus epilepsytype 5
: code 402082
Progressive myoclonus epilepsytype 6
: code 280620
Progressive myoclonus epilepsytype 7
: code 435438
Progressive myoclonus epilepsytype 8
: code 424027
Progressive myoclonus epilepsytype 9
: code 457265
Progressive myoclonus epilepsywith dystonia
: code 352596
Progressive neuronal degenerationof childhood with liver disease
: code 726
Progressive neurosensory deafness- hypertrophic cardiomyopathysyndrome
: code 228012
Progressive neurosensory hearing loss-hypertrophic cardiomyopathysyndrome
: code 228012
Progressive nodular histiocytosis
: code 158022
Progressive non-fluent aphasia
: code 100070
Progressive non-infectious anterior
: code 2062
Progressive osseous heteroplasia
: code 2762
Progressive pancytopenia- immunodeficiency-cerebellarhypoplasia syndrome
: code 3322
Progressive polyneuropathy withbilateral striatal necrosis
: code 217396
Progressive pseudorheumatoidarthropathy of childhood
: code 1159
Progressive retinal dystrophy dueto retinol transport defect
: code 352718
Progressive scapulohumeroperoneal distalmyopathy
: code 447977
Progressive sensorineural deafness- hypertrophic cardiomyopathysyndrome
: code 228012
Progressive sensorineural hearing loss-hypertrophic cardiomyopathysyndrome
: code 228012
Progressive spondyloepimetaphyseal dysplasia- short stature-short fourth metatarsals-intellectual disabilitysyndrome
: code 457395
Progressive supranuclear palsy
: code 683
Progressive supranuclear palsy-apraxia of speech syndrome
: code 240112
Progressive supranuclear palsy-corticobasal syndrome
: code 240103
Progressive supranuclear palsy-parkinsonism syndrome
: code 240085
Progressive supranuclear palsy- progressive non-fluent aphasiasyndrome
: code 240112
Progressive supranuclear palsy- pure akinesia with gait freezingsyndrome
: code 240094
Progressive symmetricerythrokeratodermia
: code 316
Progressive symmetricerythrokeratodermia Gottron type
: code 316
Prolactin-secreting pituitaryadenoma
: code 2965
Prolactinoma
: code 2965
Prolidase deficiency
: code 742
Proliferating trichilemmal cyst
: code 492
Proliferation of large granularlymphocytes
: code 86872
Proliferative vasculopathy andhydranencephaly/hydrocephaly
: code 221126
Proline oxidase deficiency
: code 419
Prolonged electroretinal responsesuppression
: code 75374
Prolymphocytic variant of hairy cellleukemia
: code 300878
Prolymphocytic variant of HCL
: code 300878
Prominent glabella-microcephaly-hypogenitalism syndrome
: code 2083
Properdin deficiency
: code 2966
Propionic acidemia
: code 35
Propionic aciduria
: code 35
Propionyl-CoA carboxylasedeficiency
: code 35
Propylthiouracil embryofetopathy
: code 485358
Propylthiouracil embryopathy
: code 485358
Proteasome disability syndrome
: code 324977
Proteasome-associatedautoinflammatory syndrome
: code 324977
Protein defect of cystin transport
: code 213
Protein S acquired deficiency
: code 26349
Proteus syndrome
: code 744
Proteus-like syndrome
: code 2969
Prothrombin deficiency
: code 325
Proton-pump inhibitor-responsiveesophageal eosinophilia
: code 411696
Protoplasmic astrocytoma
: code 251598
Protoporphyrinogen oxidasedeficiency
: code 79473
Proud syndrome
: code 2508
Proud-Levine-Carpenter syndrome
: code 2508
Proximal 11p deletion syndrome
: code 52022
Proximal 16p11.2 microdeletionsyndrome
: code 261197
Proximal 16p11.2 microduplicationsyndrome
: code 370079
Proximal del(4)(q25)
: code 502437
Proximal del(16)(p11.2)
: code 261197
Proximal dup(16)(p11.2)
: code 370079
Proximal monosomy 4q25
: code 502437
Proximal monosomy 16p11.2
: code 261197
Proximal myopathy withextrapyramidal signs
: code 401768
Proximal myotonic dystrophy
: code 606
Proximal myotonic myopathy
: code 606
Proximal renal tubular acidosis
: code 47159
Proximal renal tubular acidosis with ocular abnormalities andintellectual disability
: code 93607
Proximal spinal muscular atrophy
: code 70
Proximal spinal muscular atrophytype 1
: code 83330
Proximal spinal muscular atrophytype 2
: code 83418
Proximal spinal muscular atrophytype 3
: code 83419
Proximal spinal muscular atrophytype 4
: code 83420
Proximal symphalangism
: code 3250
Proximal trisomy 16p11.2
: code 370079
Proximal tubulopathy-diabetes
: code 3390
PrP systemic amyloidosis
: code 397606
PRPP synthetase superactivity
: code 3222
PRPS1 superactivity
: code 3222
pRTA
: code 47159
PRTH
: code 165994
Prune belly syndrome
: code 2970
Pruriginous dystrophicepidermolysis bullosa
: code 89843
Pruritic urticarial papules andplaques of pregnancy
: code 64745
PSAT deficiency
: code 284417
PSC
: code 171
Pseudo-Angelman syndrome
: code 228402
Pseudo-Best disease
: code 99000
Pseudo-Demons-Meigs syndrome
: code 314459
Pseudo-Hurler polydystrophy
: code 577
Pseudo-Meigs syndrome
: code 314459
Pseudo-membranous bronchitis
: code 439881
Pseudo-Morquio syndrome type 2
: code 263482
Pseudo-NALD
: code 2971
Pseudo-neonataladrenoleukodystrophy
: code 2971
Pseudo-TORCH syndrome
: code 1229
Pseudo-trisomy 13 syndrome
: code 2166
Pseudo-vitelliform maculardystrophy
: code 99000
Pseudo-von Willebrand disease
: code 52530
Pseudo-von Willebrand diseasetype 2B
: code 52530
Pseudo-Zellweger syndrome
: code 300
Pseudoachondroplasia
: code 750
Pseudoachondroplastic dysplasia
: code 750
Pseudoachondroplasticspondyloepiphyseal dysplasia
: code 750
Pseudoadrenoleukodystrophy
: code 2971
Pseudoaldosteronism
: code 526
Pseudoaminopterin syndrome
: code 221120
Pseudodiastrophic dysplasia
: code 85174
Pseudohermaphroditism-intellectual disability syndrome
: code 2983
Pseudohyperaldosteronism type 1
: code 526
Pseudohyperaldosteronism type 2
: code 88660
Pseudohypoaldosteronism type 1
: code 756
Pseudohypoaldosteronism type 2
: code 757
Pseudohypoaldosteronism type 2A
: code 88938
Pseudohypoaldosteronism type 2B
: code 88939
Pseudohypoaldosteronism type 2C
: code 88940
Pseudohypoaldosteronism type 2D
: code 300525
Pseudohypoaldosteronism type 2E
: code 300530
Pseudohypoparathyroidism type 1A
: code 79443
Pseudohypoparathyroidism type 1B
: code 94089
Pseudohypoparathyroidism type 1C
: code 79444
Pseudohypoparathyroidism type 2
: code 94090
Pseudoleprechaunism syndrome Patterson type
: code 2976
Pseudomyxoma peritonei
: code 26790
Pseudopapillaryganglioglioneurocytoma
: code 251962
Pseudopapillary neurocytoma withglial differentiation
: code 251962
Pseudopapilledema- blepharophimosis-hand anomaliessyndrome
: code 2980
Pseudopelade of Brocq
: code 129
Pseudoprogeria syndrome
: code 2985
Pseudopseudohypoparathyroidism
: code 79445
Pseudosarcomatous fasciitis
: code 477742
Pseudosarcomatous fibromatosis
: code 477742
Pseudothalidomide syndrome
: code 3103
Pseudotumor cerebri
: code 238624
Pseudotyphus of California
: code 83316
Pseudounicornuate uterus
: code 180079
Pseudovaginal perineoscrotalhypospadias
: code 753
Pseudovitamin D-deficient rickets
: code 289157
Pseudoxanthoma elasticum
: code 758
Pseudoxanthoma elasticum-likepapillary dermal elastolysis
: code 228293
Pseudoxanthoma elasticum-likeskin manifestations with retinitis pigmentosa
: code 436274
Pseudoxanthoma elasticum-likesyndrome
: code 91135
Pseudoxanthoma-like late-onsetfocal dermal elastosis
: code 228227
Pseudoxanthomatous DCM
: code 280794
Pseudoxanthomatous diffusecutaneous mastocytosis
: code 280794
PSIS
: code 95496
Psoriasis-related JIA
: code 85436
Psoriasis-related juvenile idiopathicarthritis
: code 85436
PSP syndrome
: code 683
PSP-AOS
: code 240112
PSP-CBS
: code 240103
PSP-corticobasal syndrome
: code 240103
PSP-p
: code 240085
PSP-PAGF
: code 240094
PSP-parkinsonism
: code 240085
PSP-PNFA
: code 240112
PSP-pure akinesia with gait freezing
: code 240094
PSS type A
: code 263548
PSS type B
: code 263553
PSST
: code 99928
Psychogenic dystonia
: code 71519
Psychogenic movement disorders
: code 71519
Psychogenic purpura
: code 324636
Psychomotor regression-
: code 505242
Psychomotor retardation due to S- adenosylhomocysteine hydrolasedeficiency
: code 88618
PT-VWD
: code 52530
PTA deficiency
: code 329
PTC syndrome
: code 247698
PTC-RCC
: code 97290
PTCD
: code 269229
Pterin-4 alpha-carbinolaminedehydratase deficiency
: code 1578
Pterygium colli-intellectual disability-digital anomaliessyndrome
: code 2988
PTLAH
: code 86789
PTLD
: code 70568
Ptosis-strabismus-ectopic pupilssyndrome
: code 2999
Ptosis-strabismus-rectus abdominisdiastasis syndrome
: code 293843
Ptosis-syndactyly-learningdifficulties syndrome
: code 238766
Ptosis-upper ocular movement limitation-absence of lacrimalpunctum syndrome
: code 228396
Ptosis-vocal cord paralysissyndrome
: code 2997
PTPR
: code 251915
PTU embryofetopathy
: code 485358
PTU embryopathy
: code 485358
PUAH
: code 231580
Pudendal algia
: code 60039
Pudendal nerve entrapmentsyndrome
: code 60039
Pudendal neuralgia
: code 60039
Pudendal neuralgia by pudendalnerve entrapment
: code 60039
Pudendalgia
: code 60039
Puerperal psychosis
: code 443173
Pulmonary agenesis
: code 984
Pulmonary alveolar microlithiasis
: code 60025
Pulmonary alveolar proteinosis Reunion island type
: code 440427
Pulmonary anthrax
: code 247257
Pulmonary arterial hypertension- leukopenia-atrial septal defectsyndrome
: code 331176
Pulmonary arteriovenousmalformation
: code 2038
Pulmonary artery coming frompatent ductus arteriosus
: code 99049
Pulmonary artery coming from theaorta
: code 99050
Pulmonary artery hypoplasia
: code 99083
Pulmonary atresia with ventricularseptal defect
: code 1207
Pulmonary atresia-intactventricular septum syndrome
: code 1208
Pulmonary blastoma
: code 64741
Pulmonary branch stenosis
: code 99084
Pulmonary capillaryhemangiomatosis
: code 199241
Pulmonary fibrosis-hepatic hyperplasia-bone marrowhypoplasia syndrome
: code 210136
Pulmonary fungal infections inpatients deemed at risk
: code 217080
Pulmonary histiocytosis X
: code 99874
Pulmonary hypoplasia-agonadism- dextrocardia-diaphragmatic herniasyndrome
: code 991
Pulmonary interstitial glycogenosis
: code 217557
Pulmonary lymphangiomatosis
: code 2414
Pulmonary nodular lymphoidhyperplasia
: code 60026
Pulmonary non-tuberculousmycobacterial infection
: code 411703
Pulmonary pseudolymphoma
: code 60026
Pulmonary valve agenesis-intact ventricular septum-persistentductus arteriosus syndrome
: code 99048
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductusarteriosus syndrome
: code 101206
Pulmonary venoocclusive disease
: code 31837
Pulmonic stenosis with ‘caf-au-lait’spots
: code 636
Pulmonic stenosis- brachytelephalangism-calcificationof cartilages syndrome
: code 85202
Pulverulent cataract
: code 98984
Punch-drunk syndrome
: code 97353
Punctate palmoplantarhyperkeratosis type 2
: code 79502
Punctate palmoplantarhyperkeratosis type 3
: code 38
Punctate palmoplantar hyperkeratosis type 3 withoutelastoidosis
: code 308013
Punctate palmoplantarkeratoderma type 1
: code 79501
Punctate palmoplantarkeratoderma type 2
: code 79502
Punctate palmoplantarkeratoderma type 3
: code 38
Punctate palmoplantar keratoderma type 3 withoutelastoidosis
: code 308013
PUPPP
: code 64745
PURA-related severe neonatal
: code 438213
PURA-related severe neonatal hypotonia-seizures-encephalopathysyndrome due to a point mutation
: code 438216
Pure aldosterone-producingadrenocortical carcinoma
: code 231625
Pure aldosterone-secretingadrenocortical carcinoma
: code 231625
Pure APAC
: code 231625
Pure autonomic failure
: code 441
Pure dysautonomia
: code 441
Pure familial acute myeloidleukemia
: code 319465
Pure familial AML
: code 319465
Pure hair and nail ectodermaldysplasia
: code 69084
Pure idiopatic dysautonomia
: code 441
Pure Joubert syndrome
: code 475
Pure mitochondrial myopathy
: code 254854
Puretic syndrome
: code 2028
Purine nucleoside phosphorylasedeficiency
: code 760
Purpura rheumatica
: code 761
Purtilo syndrome
: code 2442
Pustular drug eruption
: code 293173
Pustulosis palmaris et plantaris
: code 163927
Pustulosis subcornealis
: code 48377
PUV
: code 93110
PV
: code 729
PVA/ADA Fallot type
: code 101206
PVA/PDA non-Fallot type
: code 99048
PWS due to a point mutation
: code 398069
PWS-like
: code 398073
PWS-like due to a point mutation
: code 398079
PXA
: code 251607
PXE
: code 758
PXE-like late-onset focal dermalelastosis
: code 228227
PXE-like papillary dermal elastolysis
: code 228293
PXE-like syndrome
: code 91135
PXE-like syndrome with retinitispigmentosa
: code 436274
Pycnodysostosis
: code 763
PYCR1 deficiency
: code 293633
PYCR1-related De Barsy syndrome
: code 293633
PYCR2-related microcephaly-progressive leukoencephalopathy
: code 481152
Pyknoachondrogenesis
: code 3003
Pyknodysostosis
: code 763
Pyknolepsy
: code 64280
Pyle disease
: code 3005
Pyoderma gangrenosum
: code 48104
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
: code 289478
Pyogenic arthritis-pyodermagangrenosum-acne syndrome
: code 69126
Pyogenic bacterial infections due toMyD88 deficiency
: code 183713
Pyomyositis
: code 764
Pyramidal molar-glaucoma-upperabnormal lip syndrome
: code 2561
Pyrgocephaly
: code 63440
Pyridoxal phosphate-dependentseizures
: code 79096
Pyridoxal phosphate-responsiveseizures
: code 79096
Pyridoxamine 5′-oxidase deficiency
: code 79096
Pyridoxamine 5′-phosphate oxidasedeficiency
: code 79096
Pyridoxine-dependent epilepsy
: code 3006
Pyroglutamicaciduria
: code 32
Pyrroline-5-carboxylate reductase 1deficiency
: code 293633
Pyruvate carboxylase deficiency
: code 3008
Pyruvate carboxylase deficiencytype A
: code 353308
Pyruvate carboxylase deficiencytype B
: code 353314
Pyruvate carboxylase deficiencytype C
: code 353320
Pyruvate carboxylase deficiency benign type
: code 353320
Pyruvate carboxylase deficiency infantile type
: code 353308
Pyruvate carboxylase deficiency severe neonatal type
: code 353314
Pyruvate decarboxylase deficiency
: code 79243
Pyruvate dehydrogenase complexcomponent E2 deficiency
: code 79244
Pyruvate dehydrogenase complexcomponent E3 deficiency
: code 255182
Pyruvate dehydrogenase complexdeficiency
: code 765
Pyruvate dehydrogenase complex E1 component subunit alphadeficiency
: code 79243
Pyruvate dehydrogenase complex E1 component subunit betadeficiency
: code 255138
Pyruvate dehydrogenase deficiency
: code 765
Pyruvate dehydrogenase E1-alphadeficiency
: code 79243
Pyruvate dehydrogenase E1-betadeficiency
: code 255138
Pyruvate dehydrogenase E2deficiency
: code 79244
Pyruvate dehydrogenase E3deficiency
: code 2394
Pyruvate dehydrogenase E3-bindingprotein deficiency
: code 255182
Pyruvate dehydrogenasephosphatase deficiency
: code 79246
Pyruvate dehydrogenase protein Xcomponent deficiency
: code 255182
Pyruvate kinase deficiency oferythrocytes
: code 766
Q fever
: code 781
Qazi-Markouizos syndrome
: code 3010
Quadriceps-sparing myopathy
: code 602
Quadrilateral fever
: code 781
Quadruple X
: code 9
Quantal squander syndrome
: code 84142
Quaternary A syndrome
: code 869
Quebec platelet disorder
: code 220436
Query fever
: code 781
Question mark ear syndrome
: code 137888
Quinquaud’s folliculitis decalvans
: code 346
r(1) syndrome
: code 1437
r(4) syndrome
: code 1447
r(8) syndrome
: code 1450
r(11) syndrome
: code 96175
r(22) syndrome
: code 1446
r(Y)
: code 261529
RAAS-blocker-induced angioedema
: code 100057
RAAS-blocker-inducedangioneurotic edema
: code 100057
Rabies
: code 770
Rabson-Mendenhall syndrome
: code 769
RAD50 deficiency
: code 240760
Radial clubhand
: code 93321
Radial deficiency-tibial hypoplasiasyndrome
: code 1121
Radial hemimelia
: code 93321
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillarydiastema syndrome
: code 2252
Radial longitidinal meromelia
: code 93321
Radial ray agenesis
: code 93321
Radial ray defects hearing impairment external ophthalmoplegia andthrombocytopenia
: code 2307
Radial ray hypoplasia-choanalatresia syndrome
: code 3026
Radiation myelitis
: code 90021
Radiation proctitis
: code 70475
Radicular dentin dysplasia
: code 99789
Radiculomegaly of canine teeth-congenital cataract
: code 2712
Radio-renal syndrome
: code 3015
Radio-ulnar fusion bilateral
: code 295219
Radio-ulnar fusion unilateral
: code 295217
Radio-ulnar synostosis bilateral
: code 295219
Radio-ulnar synostosis unilateral
: code 295217
Radio-ulnar synostosis-
: code 71289
Radio-ulnar synostosis-retinalpigment abnormalities syndrome
: code 193
Radio-ulnar terminal transversemeromelia
: code 294979
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
: code 420741
Radioulnar fusion
: code 3269
Radioulnar synostosis- developmental delay-hypotoniasyndrome
: code 3270
Radioulnar synostosis-microcephaly-scoliosis syndrome
: code 3268
RAE
: code 100057
RAEB-1
: code 100019
RAEB-2
: code 100020
RAEB-t
: code 168960
Raine syndrome
: code 1832
Rajab-Spranger syndrome
: code 50811
RAK
: code 178307
RALD
: code 268114
Rambam-Hasharon syndrome
: code 99843
Rambaud-Gallian syndrome
: code 3018
Rambaud-Gallian-Touchardsyndrome
: code 3018
Ramon syndrome
: code 3019
Ramos-Arroyo syndrome
: code 1051
Ramsay Hunt syndrome
: code 3020
Randall disease
: code 86861
RAPADILINO syndrome
: code 3021
Rapid-onset childhood obesity- hypothalamic dysfunction- hypoventilation-autonomicdysregulation syndrome
: code 293987
Rapid-onset childhood obesity- hypothalamic dysfunction- hypoventilation-autonomic dysregulation-neural tumorssyndrome
: code 293987
Rapid-onset dystonia-parkinsonism
: code 71517
Rapidly involuting congenitalhemangioma
: code 141184
Rapidly progressiveglomerulonephritis
: code 280569
Rapp-Hodgkin syndrome
: code 1071
Rare adenocarcinoma of the breast
: code 213528
Rare idiopathic male infertility
: code 98345
Rare isolated myopia
: code 98619
Rare non-syndromic intellectualdisability
: code 101685
Rare NSID
: code 101685
Rare variants of adenocarcinoma ofthe corpus uteri
: code 213574
RARS
: code 75564
RARS-related autosomal recessivehypomyelinating leukodystrophy
: code 438114
RAS-associated autoimmuneleukoproliferative disease
: code 268114
Rasmussen subacute encephalitis
: code 1929
Rasmussen syndrome
: code 1929
Rasmussen-Johnsen-Thomsensyndrome
: code 3023
Rat-bite fever
: code 31205
Rathburn disease
: code 436
Ravine syndrome
: code 99852
Ray-Peterson-Scott syndrome
: code 2840
RB-ILD
: code 79127
RBCD
: code 98961
RC11
: code 96175
RCAD syndrome
: code 93111
RCDP
: code 177
RCVS
: code 284388
RDEB generalisata gravis
: code 79408
RDEB generalisata mitis
: code 89842
RDEB centripetalis
: code 89841
RDEB generalized intermediate
: code 89842
RDEB Hallopeau-Siemens type
: code 79408
RDEB non-Hallopeau-Siemens type
: code 89842
RDEB-Ce
: code 89841
RDEB-generalized other
: code 89842
RDEB-I
: code 79409
RDEB-O
: code 89842
RDEB-sev gen
: code 79408
Reactive amyloidosis
: code 85445
Reactive arthritis
: code 29207
Reactive hypereosinophilicsyndrome
: code 314962
Reading seizures
: code 166433
REAR syndrome
: code 857
Reardon-Baraitser syndrome
: code 1188
Reardon-Hall-Slaney syndrome
: code 2631
Rec8 syndrome
: code 96167
Rec(8) sy
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