Engage Health
Rare Disease Market Research
Menu
Home
About Us
Staff
Rare Disease Experience
Past and Present Clients
Contact Us
Visit our Facebook Page
Privacy and Data Storage Policies
Services
Rare Disease Difference Maker™
Blog
Rare Collective®
Current Issues
Rare Collective® Insights
Engage Health Insights
Engage Health Publications
Events
Participate in Health Research
Current Studies
Future Studies
Participate in Health Research
Available Health Research Opportunities
Current Studies
Future Studies
This website uses cookies to improve your experience. We'll assume you're ok with this. Click "read more" to read our privacy policy and learn how we use your data.
Accept
Read More
Privacy & Cookies Policy
Subscribe today
Full Name
Email
Role
Physician or other Healthcare Provider
Patient
Parent or Legal Guardian
Member of Industry
Other
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
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) syndrome
: code 96167
Recessive aplasia cutis congenita oflimbs
: code 1115
Recessive dystrophic epidermolysisbullosa inversa
: code 79409
Recessive dystrophic epidermolysisbullosa generalized intermediate
: code 89842
Recessive dystrophic epidermolysis bullosa non-Hallopeau-Siemenstype
: code 89842
Recessive dystrophic epidermolysisbullosa-generalized other
: code 89842
Recessive intellectual disability- motor dysfunction-multiple jointcontractures syndrome
: code 280384
Recessive mitochondrial ataxia
: code 94125
Recessive X-linked ichthyosis
: code 461
Recessive X-linked ichthyosis withextracutaneous manifestations
: code 281090
Recombinant 8 syndrome
: code 96167
Recombinant chromosome 8syndrome
: code 96167
Recrudescent typhus
: code 99990
Rectal duplication
: code 171220
Rectal NET
: code 100081
Rectal neuroendocrine tumor
: code 100081
Rectal squamous cell carcinoma
: code 424002
Rectus abdominis syndrome
: code 51890
Recurrent acute necrotizingencephalopathy
: code 88619
Recurrent acute pancreatitis
: code 64740
Recurrent encephalophathy ofchildhood
: code 2672
Recurrent hepatitis C virus induced liver disease in liver transplantrecipients
: code 90052
Recurrent hereditary cornealerosions
: code 293381
Recurrent idiopathic neuroretinitis
: code 499103
Recurrent infection due to specificgranule deficiency
: code 169142
Recurrent infections associated with rare immunoglobulin isotypesdeficiency
: code 183675
Recurrent infections-inflammatory syndrome due to zinc metabolismdisorder syndrome
: code 251523
Recurrent intrahepatic cholestasisof pregnancy
: code 69665
Recurrent metabolic encephalomyopathic crises- rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
: code 480864
Recurrent Neisseria infections dueto factor D deficiency
: code 169467
Recurrent respiratorypapillomatosis
: code 60032
Recurring digital fibrous tumor ofchildhood
: code 199267
Red oculocutaneous albinism
: code 79433
Red palms disease
: code 231031
RED-M
: code 838
Reducing body myopathy
: code 97239
Reed syndrome
: code 523
Refetoff syndrome
: code 3221
Reflex sympathetic dystrophy
: code 99995
Refractory anemia
: code 98826
Refractory anemia with excessblasts
: code 86839
Refractory anemia with excess
: code 168960
Refractory anemia with excessblasts type 1
: code 100019
Refractory anemia with excessblasts type 2
: code 100020
Refractory anemia with ringedsideroblasts
: code 75564
Refractory CD
: code 398063
Refractory celiac disease
: code 398063
Refractory sprue
: code 398063
Refsum disease
: code 773
Reginato-Schiapachasse syndrome
: code 1525
Regional choroidal atrophy andalopecia
: code 1433
Regional odontodysplasia
: code 83450
Regressive atypical histiocytosis
: code 300865
Regressive metaphyseal dysplasia
: code 1040
Regressive spondylometaphysealdysplasia
: code 448267
Reinhardt-Pfeiffer mesomelicdysplasia
: code 2634
Reinhardt-Pfeiffer syndrome
: code 2634
Reis-Bcklers corneal dystrophy
: code 98961
Reiter disease
: code 29207
Reiter syndrome
: code 29207
Relapsing epidemic typhus
: code 99991
Relapsing febrile nodularnonsuppurative panniculitis
: code 33577
Relapsing febrile nodularpanniculitis
: code 33577
Relapsing fever
: code 91547
Relapsing polychondritis
: code 728
Remnant disease
: code 412
REN-associated familial juvenilehyperuricemic nephropathy
: code 217330
REN-associated FJHN
: code 217330
REN-associated kidney disease
: code 217330
REN-related autosomal dominanttubulointerstitial kidney disease
: code 217330
Renal agenesis
: code 411709
Renal agenesis bilateral
: code 1848
Renal agenesis unilateral
: code 93100
Renal caliceal diverticuli-deafnesssyndrome
: code 2838
Renal cell carcinoma afterneuroblastoma
: code 319314
Renal cell carcinoma associatedwith neuroblastoma
: code 319314
Renal coloboma syndrome
: code 1475
Renal cysts and diabetes syndrome
: code 93111
Renal cysts-maturity-onset diabetesof the young syndrome
: code 93111
Renal dysfunction-early-onsetdiabetes syndrome
: code 93111
Renal dysplasia
: code 93108
Renal dysplasia bilateral
: code 93173
Renal dysplasia unilateral
: code 93172
Renal dysplasia-limb defectssyndrome
: code 3404
Renal dysplasia-megalocystis-sirenomelia syndrome
: code 1768
Renal dysplasia-mesomelia-radiohumeral fusion syndrome
: code 3404
Renal dysplasia-retinal aplasiasyndrome
: code 3156
Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletaldysplasia syndrome
: code 140969
Renal embryonic tumor
: code 654
Renal Fanconi syndrome withnephrocalcinosis and renal stones
: code 1652
Renal hypomagnesemia type 2
: code 34528
Renal hypomagnesemia type 3
: code 31043
Renal hypoplasia
: code 93101
Renal hypoplasia bilateral
: code 97362
Renal hypoplasia unilateral
: code 97361
Renal medullary carcinoma
: code 319319
Renal nutcracker syndrome
: code 71273
Renal pseudohypoaldosteronismtype 1
: code 171871
Renal tubular acidosis type 1
: code 18
Renal tubular acidosis type 2
: code 47159
Renal tubular acidosis type 3
: code 2785
Renal tubular dysgenesis
: code 3033
Renal tubular dysgenesis due totwin-twin transfusion
: code 97367
Renal tubular dysgenesis of geneticorigin
: code 97369
Renal tubular normotensive hypokalemic alkalosis withhypercalciuria
: code 112
Renal tubulopathy- encephalopathy-liver failuresyndrome
: code 254902
Renal-ear-anal-radial syndrome
: code 857
Renal-genital-middle ear anomalies
: code 1092
Renal-hepatic-pancreatic dysplasia
: code 294415
Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
: code 3032
Rendu-Osler disease
: code 774
Rendu-Osler-Weber disease
: code 774
Renier-Gabreels-Jasper syndrome
: code 93975
Renin-angiotensin-aldosterone system-blocker-inducedangioedema
: code 100057
Renin-angiotensin-aldosterone system-blocker-inducedangioneurotic edema
: code 100057
Renohepaticopancreatic dysplasia
: code 294415
Renotubular dysgenesis
: code 3033
Renpenning syndrome
: code 3242
RERE-related neurodevelopmentalsyndrome
: code 494344
Resistance to IGF-1
: code 73273
Resistance to thyroid stimulatinghormone
: code 424
Resistance to thyrotropin-releasinghormone syndrome
: code 99832
Respiratory anthrax
: code 247257
Respiratory anthrax disease
: code 247257
Respiratory bronchiolitis-interstitiallung disease syndrome
: code 79127
Restrictive dermopathy
: code 1662
Reticular dysgenesis
: code 33355
Reticular dystrophy of the retinalpigment epithelium
: code 99002
Reticular perineurioma
: code 100000
Reticular pigment anomaly offlexures
: code 79145
Reticulate acropigmentation ofKitamura
: code 178307
Reticulum cell sarcoma
: code 86900
Retiform hemangioendothelioma
: code 458763
Retinal arterial macroaneurysm andsupravalvular pulmonic stenosis
: code 284247
Retinal arterial tortuosity
: code 75326
Retinal arteriolar tortuosity
: code 75326
Retinal capillary malformation
: code 71213
Retinal degeneration-nanophthalmos-glaucoma syndrome
: code 1574
Retinal detachment-occipitalencephalocele syndrome
: code 1571
Retinal dystrophy with inner nuclear layer and ganglion cellanomalies
: code 397758
Retinal dystrophy with inner retinaldysfunction and ganglion cell anomalies
: code 397758
Retinal dystrophy-juvenile cataract-short stature syndrome
: code 436245
Retinal hemorrhage with vasculartortuosity
: code 75326
Retinal ischemic syndrome- digestive tract small vessel hyalinosis-diffuse cerebralcalcifications syndrome
: code 3018
Retinal macular dystrophy type 2
: code 319640
Retinal vasculopathy and cerebralleukoencephalopathy
: code 247691
Retinal vasculopathy with cerebral leukoencephalopathy and systemicmanifestations
: code 247691
Retinal vasoproliferative tumor
: code 353356
Retinitis pigmentosa
: code 791
Retinitis pigmentosa and
: code 85332
Retinitis pigmentosa and intellectual disability due tomonosomy Xp11.3
: code 85332
Retinitis pigmentosa and intellectual disability due to Xp11.3microdeletion
: code 85332
Retinitis pigmentosa-deafnesssyndrome
: code 886
Retinitis pigmentosa-deafness- premature aging-short stature-facialdysmorphism syndrome
: code 494439
Retinitis pigmentosa-hearing loss- premature aging-short stature-facialdysmorphism syndrome
: code 494439
Retinitis pigmentosa- hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
: code 140976
Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome
: code 3085
Retinitis pigmentosa-intellectual disability-deafness-hypogonadismsyndrome
: code 3085
Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
: code 3085
Retinitis pigmentosa-juvenile cataract-short stature-intellectualdisability syndrome
: code 436245
Retinitis punctata albescens
: code 52427
Retinoblastoma
: code 790
Retinocochleocerebralvasculopathy
: code 838
Retinohepatoendocrinologicsyndrome
: code 3087
Retinoic acid embryopathy
: code 2305
Retinoid embryopathy
: code 40366
Retinoids embryopathy
: code 2305
Retinol dystrophy-iris coloboma-comedogenic acne syndrome
: code 352718
Retinopathy of prematurity
: code 90050
Retinopathy Burgess-Black type
: code 139455
Retinopathy-anemia-centralnervous system anomalies syndrome
: code 3088
Retinopathy-encephalopathy- deafness associated withmicroangiopathy
: code 838
Retinoschisis with early nyctalopia
: code 53540
Retrocerebellar arachnoid cyst
: code 269200
Retrocerebellar cyst
: code 269200
Retrolental fibroplasia
: code 90050
Rett syndrome
: code 778
Rett syndrome variant
: code 3095
Reunion Island Larsen syndrome
: code 294049
Reunion island-anorexia-vomiting which is irrepressible-neurologicalsigns syndrome
: code 99852
Reversible cerebralvasoconstriction syndrome
: code 284388
Reversible infantile cytochrome Coxidase deficiency
: code 254864
Reversible infantile respiratorychain deficiency
: code 254864
Revesz syndrome
: code 3088
Revesz-DeBuse syndrome
: code 3088
Reye syndrome
: code 3096
Reye tumor
: code 199267
Reynolds syndrome
: code 779
RFT1-CDG
: code 244310
RGNT
: code 251975
Rh deficiency syndrome
: code 71275
Rh-null syndrome
: code 71275
Rhabdoid tumor
: code 69077
Rhabdoid tumor predispositionsyndrome
: code 231108
Rhabdomyomatous dysplasia- cardiopathy-genital anomaliessyndrome
: code 3097
Rhabdomyosarcoma
: code 780
Rhabdomyosarcoma of the cervixuteri
: code 213802
Rhabdomyosarcoma of the corpusuteri
: code 213615
Rheumatic fever
: code 3099
Rheumatoid factor-negative JIA
: code 85408
Rheumatoid factor-negative JIAwith anti-nuclear antibodies
: code 247854
Rheumatoid factor-negative JIAwithout anti-nuclear antibodies
: code 247861
Rheumatoid factor-negativejuvenile idiopathic arthritis
: code 85408
Rheumatoid factor-negative juvenile idiopathic arthritis withanti-nuclear antibodies
: code 247854
Rheumatoid factor-negative juvenile idiopathic arthritis withoutanti-nuclear antibodies
: code 247861
Rheumatoid factor-positivepolyarticular JIA
: code 85435
Rheumatoid factor-positive polyarticular juvenile idiopathicarthritis
: code 85435
Rheumatoid purpura
: code 761
Rhizomelic chondrodysplasiapunctata
: code 177
Rhizomelic chondrodysplasiapunctata type 1
: code 309789
Rhizomelic chondrodysplasiapunctata type 2
: code 309796
Rhizomelic chondrodysplasiapunctata type 3
: code 309803
Rhizomelic chondrodysplasiapunctata type 5
: code 468717
Rhizomelic dysplasia Patterson-Lowry type
: code 2831
Rhizomelic pseudopolyarthritis
: code 93569
Rhizomelic shortness withclavicular defect
: code 1453
Rhizomelic syndrome Urbach type
: code 3098
Rhombencephalosynapsis
: code 59315
RHS
: code 1071
RHYNS syndrome
: code 140976
RI-CMT type A
: code 217055
RI-CMT type B
: code 254334
RI-CMT type C
: code 369867
RI-CMT type D
: code 435998
Riboflavin transporter deficiency
: code 97229
Ribose-5-P isomerase deficiency
: code 440706
RICH
: code 141184
Richards-Rundle syndrome
: code 1399
Richardson syndrome
: code 240071
Richardson-Kirk syndrome
: code 2323
Richieri Costa-da Silva syndrome
: code 3101
Richieri Costa-Guion Almeidasyndrome
: code 2995
Richieri Costa-Guion Almeida-Ramos syndrome
: code 2511
Richieri Costa-Guion Almeida-Rodini syndrome
: code 2353
Richieri Costa-Pereira syndrome
: code 3102
Richieri-Costa-Colletto syndrome
: code 1784
Richieri-Costa-Gorlin syndrome
: code 1794
Richner-Hanhart syndrome
: code 28378
Ricker disease
: code 606
Ricker syndrome
: code 606
Rickettsialpox
: code 83312
RIDDLE syndrome
: code 420741
Riedel disease
: code 64744
Riedel thyroiditis
: code 64744
Rieger anomaly
: code 91483
Rieger anomaly-partiallipodystrophy syndrome
: code 3163
Rieger syndrome
: code 782
Rift valley fever
: code 319251
Right aortic arch
: code 99081
Right inferior caval vein connectingto left-sided atrium
: code 99119
Right inferior vena cava connectingto left-sided atrium
: code 99119
Right IVC connecting to left-sidedatrium
: code 99119
Right superior caval vein connectingto left-sided atrium
: code 99110
Right superior vena cava connecting
: code 99110
Right SVC connecting to left-sidedatrium
: code 99110
Rigid spine congenital musculardystrophy
: code 97244
Rigid spine syndrome
: code 97244
Riley-Day syndrome
: code 1764
RIN2 deficiency
: code 217335
RIN2 syndrome
: code 217335
Ring 9
: code 96173
Ring 1
: code 1437
Ring 2
: code 96171
Ring 3
: code 96172
Ring 4
: code 1447
Ring 5
: code 251043
Ring 6
: code 1448
Ring 7
: code 1449
Ring 8
: code 1450
Ring 10
: code 1438
Ring 11
: code 96175
Ring 12
: code 1439
Ring 13
: code 96176
Ring 14
: code 1440
Ring 15
: code 96177
Ring 16
: code 96178
Ring 17
: code 1441
Ring 18
: code 1442
Ring 19
: code 1443
Ring 20
: code 1444
Ring 21
: code 1445
Ring 22
: code 1446
Ring chromosome 1
: code 1437
Ring chromosome 1 syndrome
: code 1437
Ring chromosome 2
: code 96171
Ring chromosome 2 syndrome
: code 96171
Ring chromosome 3
: code 96172
Ring chromosome 3 syndrome
: code 96172
Ring chromosome 4
: code 1447
Ring chromosome 4 syndrome
: code 1447
Ring chromosome 5
: code 251043
Ring chromosome 5 syndrome
: code 251043
Ring chromosome 6
: code 1448
Ring chromosome 6 syndrome
: code 1448
Ring chromosome 7
: code 1449
Ring chromosome 7 syndrome
: code 1449
Ring chromosome 8
: code 1450
Ring chromosome 8 syndrome
: code 1450
Ring chromosome 9
: code 96173
Ring chromosome 9 syndrome
: code 96173
Ring chromosome 10
: code 1438
Ring chromosome 10 syndrome
: code 1438
Ring chromosome 11
: code 96175
Ring chromosome 11 syndrome
: code 96175
Ring chromosome 12
: code 1439
Ring chromosome 12 syndrome
: code 1439
Ring chromosome 13
: code 96176
Ring chromosome 13 syndrome
: code 96176
Ring chromosome 14
: code 1440
Ring chromosome 14 syndrome
: code 1440
Ring chromosome 15
: code 96177
Ring chromosome 15 syndrome
: code 96177
Ring chromosome 16
: code 96178
Ring chromosome 16 syndrome
: code 96178
Ring chromosome 17
: code 1441
Ring chromosome 17 syndrome
: code 1441
Ring chromosome 18
: code 1442
Ring chromosome 18 syndrome
: code 1442
Ring chromosome 19
: code 1443
Ring chromosome 19 syndrome
: code 1443
Ring chromosome 20
: code 1444
Ring chromosome 20 syndrome
: code 1444
Ring chromosome 21
: code 1445
Ring chromosome 21 syndrome
: code 1445
Ring chromosome 22
: code 1446
Ring chromosome 22 syndrome
: code 1446
Ring chromosome Y
: code 261529
Ring chromosome Y syndrome
: code 261529
Ring dermoid of cornea
: code 91481
Ring dermoid syndrome
: code 91481
Ringed hair disease
: code 169
RINR
: code 499103
Rippling muscle disease
: code 97238
Rippling muscle disease withmyasthenia gravis
: code 206575
Ritscher-Schinzel syndrome
: code 7
Rivera-Perez-Salas syndrome
: code 1803
RLS
: code 294049
rMED
: code 93307
RNF168 deficiency
: code 420741
RNS
: code 71273
Roberts syndrome
: code 3103
Roberts-SC phocomelia syndrome
: code 3103
Robin sequence-oligodactylysyndrome
: code 3104
Robinow dwarfism
: code 97360
Robinow syndrome
: code 97360
Robinow-like syndrome
: code 3105
Robinow-Silverman-Smithsyndrome
: code 97360
Robinow-Sorauf syndrome
: code 794
Robinow-Unger syndrome
: code 2780
Roch-Leri mesosomatouslipomatosis
: code 529
Rocky Mountain spotted fever
: code 83311
Rod monochromacy
: code 49382
Rod monochromatism
: code 49382
Rogers syndrome
: code 49827
ROHHAD
: code 293987
ROHHADNET
: code 293987
Roifman syndrome
: code 353298
Roifman-Chitayat syndrome
: code 221139
Roifman-Melamed syndrome
: code 1855
Rokitansky sequence
: code 247775
Rokitansky syndrome
: code 3109
Rolandic epilepsy
: code 1945
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer’scramp syndrome
: code 163727
Rolandic epilepsy-speech dyspraxiasyndrome
: code 163721
Romano-Ward long QT syndrome
: code 101016
Romano-Ward syndrome
: code 101016
Romberg syndrome
: code 1214
Rombo syndrome
: code 3110
ROP
: code 90050
Rosa-Dorfman disease
: code 158014
Rosa-Dorfman-Destombes disease
: code 158014
Rosenberg-Lohr syndrome
: code 1837
Rosenthal factor deficiency
: code 329
Rosenthal syndrome
: code 329
Rosette-forming glioneuronaltumor
: code 251975
Rothmund-Thomson syndrome
: code 2909
Rothmund-Thomson syndrometype 1
: code 221008
Rothmund-Thomson syndrometype 2
: code 221016
Rotor syndrome
: code 3111
Round-headed sperm syndrome
: code 171709
Roussy-Lvy syndrome
: code 3115
Rozin-camptodactyly syndrome
: code 1323
Rozin-Hertz-Goodman syndrome
: code 1323
RPGN
: code 280569
RRS
: code 1507
RSH syndrome
: code 818
RTLA
: code 293848
RTPS
: code 231108
RTS
: code 2909
RTS1
: code 221008
RTS2
: code 221016
Rubella panencephalitis
: code 83616
Rubinstein-Taybi syndrome
: code 783
Rubinstein-Taybi syndrome due to16p13.3 microdeletion
: code 353281
Rubinstein-Taybi syndrome due toCREBBP mutations
: code 353277
Rubinstein-Taybi syndrome due toEP300 haploinsufficiency
: code 353284
Rudd-Klimek syndrome
: code 1768
Rudiger syndrome
: code 798
Rufous oculocutaneous albinism
: code 79433
Ruijs-Aalfs syndrome
: code 435953
Russell diencephalic cachexia
: code 1672
Russell syndrome
: code 1672
Russell-Weaver-Bull syndrome
: code 1834
Rutherfurd syndrome
: code 2709
Ruvalcaba syndrome
: code 3121
RVCL
: code 247691
RVCL-S
: code 247691
rvFTD
: code 293848
RXLI
: code 461
S cone monochromacy
: code 16
S cone monochromatism
: code 16
Saal-Greenstein syndrome
: code 3105
Sabia hemorrhagic fever
: code 319239
Saccharopine dehydrogenasedeficiency
: code 3124
Saccharopinuria
: code 3124
Sack-Barabas syndrome
: code 286
sACL
: code 98841
Sacral agenesis syndrome
: code 3027
Sacral agenesis-abnormal ossification of the vertebral bodies- persistent notochordal canalsyndrome
: code 397927
Sacral hemangiomas-multiplecongenital abnormalities syndrome
: code 83628
Sacral meningocele-conotruncalheart defects syndrome
: code 2351
Sacral regression syndrome
: code 3027
Sacrococcygeal dysgenesisassociation
: code 3027
Sacrococcygeal teratoma
: code 494421
SADDAN
: code 85165
Saethre-Chotzen syndrome
: code 794
Sagittal craniostenosis with congenital heart disease mentaldeficiency and mandibular ankylosis
: code 2872
Sagliker syndrome
: code 300493
Saint Louis encephalitis
: code 83484
Saito-Kuba-Tsuruta syndrome
: code 2256
Salamon syndrome
: code 1409
Salcedo syndrome
: code 2613
Saldino-Mainzer syndrome
: code 140969
Salih ataxia
: code 404499
Salih myopathy
: code 289377
Salivary gland type cancer of thebreast
: code 213557
Salivary gland type carcinoma ofthe breast
: code 213557
Salla disease
: code 309334
Salt-and-pepper syndrome
: code 370938
Salt-losing tubular disorder Henle’sloop type
: code 112
Salt-wasting tubulopathy Henle’sloop type
: code 112
Salti-Salem syndrome
: code 2230
SAM syndrome
: code 369992
SAMS 1-31
: code 53721
SAMS syndrome
: code 397623
San Joaquin valley fever
: code 228123
San Luis Valley syndrome
: code 96167
Sandhoff disease
: code 796
Sandhoff disease adult form
: code 309169
Sandhoff disease infantile form
: code 309155
Sandhoff disease juvenile form
: code 309162
Sandifer syndrome
: code 71272
SANDO
: code 70595
Sandrow syndrome
: code 2378
Sanfilippo disease
: code 581
Sanfilippo syndrome type A
: code 79269
Sanfilippo syndrome type B
: code 79270
Sanfilippo syndrome type C
: code 79271
Sanfilippo syndrome type D
: code 79272
Sanjad-Sakati syndrome
: code 2323
Santavuori congenital musculardystrophy
: code 588
Santavuori disease
: code 79263
Santavuori-Haltia disease
: code 79263
Santos-Mateus-Leal syndrome
: code 2155
SAO
: code 98868
SAOA
: code 247234
SAPHO syndrome
: code 793
Sarcocystosis
: code 54368
Sarcoidosis
: code 797
Sarcosine dehydrogenase complexdeficiency
: code 3129
Sarcosinemia
: code 3129
Sarcosporidiosis
: code 54368
Sarcotubular myopathy
: code 1878
Satoyoshi syndrome
: code 3130
Saturnism
: code 330015
SAVI
: code 425120
Say-Barber-Biesecker-Young-Simpson syndrome
: code 3047
Say-Barber-Hobbs syndrome
: code 2013
Say-Barber-Miller syndrome
: code 3132
Say-Field-Coldwell syndrome
: code 3133
Say-Meyer syndrome
: code 3369
SBBYSS
: code 3047
SBCAD deficiency
: code 79157
SBMA
: code 481
SC phocomelia
: code 3103
SC pseudothalidomide syndrome
: code 3103
SCA1
: code 98755
SCA2
: code 98756
SCA3
: code 98757
SCA3 Joseph type
: code 276238
SCA3 Machado type
: code 276244
SCA3 Thomas type
: code 276241
SCA4
: code 98765
SCA5
: code 98766
SCA6
: code 98758
SCA7
: code 94147
SCA8
: code 98760
SCA10
: code 98761
SCA11
: code 98767
SCA12
: code 98762
SCA13
: code 98768
SCA14
: code 98763
SCA15/16
: code 98769
SCA16
: code 98769
SCA17
: code 98759
SCA18
: code 98771
SCA19/22
: code 98772
SCA20
: code 101110
SCA21
: code 98773
SCA22
: code 98772
SCA23
: code 101108
SCA25
: code 101111
SCA26
: code 101112
SCA27
: code 98764
SCA28
: code 101109
SCA29
: code 208513
SCA30
: code 211017
SCA31
: code 217012
SCA32
: code 276183
SCA34
: code 1955
SCA35
: code 276193
SCA36
: code 276198
SCA37
: code 363710
SCA38
: code 423296
SCA40
: code 423275
SCA41
: code 458798
SCA42
: code 458803
SCA43
: code 497764
SCABD
: code 95433
SCAD deficiency
: code 26792
SCADD
: code 26792
SCAE
: code 254881
Scalp defects-postaxial polydactylysyndrome
: code 1003
SCALP syndrome
: code 370052
Scalp-ear-nipple syndrome
: code 2036
SCAN 2
: code 64753
SCAN1
: code 94124
SCAP
: code 840
Scaphocephaly-macrocephaly- maxillary retrusion-intellectualdisability syndrome
: code 168624
Scapuloiliac dysostosis
: code 2839
Scapuloperoneal neuronopathy
: code 431255
Scapuloperoneal spinal muscularatrophy
: code 431255
SCAR1
: code 64753
SCAR2
: code 1170
SCAR3
: code 95433
SCAR4
: code 95434
SCAR5
: code 83472
SCAR6
: code 284332
SCAR7
: code 284324
SCAR8
: code 88644
SCAR9
: code 139485
SCAR10
: code 284289
SCAR11
: code 284271
SCAR12
: code 284282
SCAR13
: code 324262
SCAR14
: code 352403
SCAR15
: code 404499
SCAR16
: code 412057
SCAR17
: code 453521
SCAR18
: code 363432
SCAR19
: code 448251
SCAR20
: code 397709
SCAR21
: code 466794
SCAR23
: code 404493
SCARF syndrome
: code 3134
Scarring in glaucoma filtrationsurgical procedures
: code 90080
SCASI
: code 95434
SCAX3
: code 85297
SCAX4
: code 85292
SCAX5
: code 314978
SCCB
: code 284400
SCCD
: code 98967
SCCO
: code 370396
SCD
: code 98967
SCD syndrome
: code 420402
Scedosporiosis
: code 449280
SCFE
: code 399329
Schaaf-Yang syndrome
: code 398069
Schaap-Taylor-Baraitser syndrome
: code 1383
SCHAD deficiency
: code 71212
Schauder syndrome
: code 370039
Scheie syndrome
: code 93474
Schilbach-Rott syndrome
: code 2353
Schilder disease
: code 59298
Schilder’s disease
: code 59298
Schimke immuno-osseous dysplasia
: code 1830
Schimke syndrome
: code 1830
Schimmelpenning syndrome
: code 2612
Schindler disease
: code 3137
Schindler disease type 1
: code 79279
Schindler disease type 2
: code 79280
Schindler disease type 3
: code 79281
Schinzel syndrome
: code 3138
Schinzel-Giedion syndrome
: code 798
Schisis association
: code 63862
Schistosomiasis
: code 1247
Schizencephaly
: code 799
Schlichting dystrophy
: code 98973
Schmidt syndrome
: code 3143
Schmitt-Gillenwater-Kellysyndrome
: code 2252
Schneckenbecken dysplasia
: code 3144
Schnitzler syndrome
: code 37748
Schnyder corneal dystrophy
: code 98967
Schnyder crystalline cornealdystrophy
: code 98967
Schnyder crystalline dystrophy sinecrystals
: code 98967
Schofer-Beetz-Bohl syndrome
: code 3145
Scholte-Begeer-van Essensyndrome
: code 3041
Schpf-Schulz-Passarge syndrome
: code 50944
Schwannomatosis
: code 93921
Schwartz-Jampel syndrome
: code 800
Schwartz-Jampel syndrome type 1
: code 800
Schwartz-Jampel syndrome type 2
: code 3206
Schwartz-Jampel-Aberfeldsyndrome
: code 800
SCID due to adenosine deaminasedeficiency
: code 277
SCID due to ARTEMIS deficiency
: code 275
SCID due to CARD11 deficiency
: code 357237
SCID due to complete RAG1/2deficiency
: code 331206
SCID due to CORO1A deficiency
: code 228003
SCID due to coronin-1A deficiency
: code 228003
SCID due to CTPS1 deficiency
: code 420573
SCID due to DCLRE1C deficiency
: code 275
SCID due to DNA-PKcs deficiency
: code 317425
SCID due to IKK2 deficiency
: code 397787
SCID due to LAT deficiency
: code 504523
SCID due to LCK deficiency
: code 280142
SCID due to lymphocyte-specificprotein tyrosine kinase deficiency
: code 280142
SCID with leukopenia
: code 33355
SCID Athabascan type
: code 275
SCID Athabaskan type
: code 275
SCIDX1
: code 276
Scimitar syndrome
: code 185
SCLC
: code 70573
Scleredema
: code 352763
Scleroatonic muscular dystrophy
: code 75840
Scleroatrophic syndrome
: code 384
Scleromyxedema
: code 167635
Scleromyxedema withoutmonoclonal gammopathy
: code 90400
Sclerosing dysplasia of bone- ichthyosis-premature ovarian failuresyndrome
: code 75325
Sclerosing mediastinitis
: code 63999
Sclerosing mesenteritis
: code 238593
Sclerosing perineurioma
: code 100001
Sclerosteosis
: code 3152
Sclerotylosis
: code 384
SCLS
: code 188
SCM type 1
: code 1671
SCN4
: code 331176
Scorpion envenomation
: code 466677
SCOT deficiency
: code 832
Scott craniodigital syndrome
: code 1514
Scott syndrome
: code 806
Scott-Bryant-Graham syndrome
: code 1514
Scott-Taor syndrome
: code 1509
SCRA
: code 86813
Scrub typhus
: code 83317
SCS
: code 794
SD1 Castilla type
: code 295193
SD1 Lueken type
: code 295189
SD1 Montagu type
: code 295191
SD1 Weidenreich type
: code 295187
SD1a
: code 295187
SD1b
: code 295189
SD1c
: code 295191
SD1d
: code 295193
SD2 Debeer type
: code 295197
SD2 Malik type
: code 295199
SD2 Vordingborg type
: code 295195
SD2a
: code 295195
SD2b
: code 295197
SD2c
: code 295199
SD3
: code 93404
SD5
: code 93406
SD/THE
: code 84064
SDCD CHST3 type
: code 263463
sdCHC
: code 168577
SDRPL
: code 300869
SDS
: code 811
SDYS
: code 373
Sea-blue histiocytosis
: code 158029
Seaver-Cassidy syndrome
: code 1778
Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
: code 370052
Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
: code 370052
Sebastian syndrome
: code 182050
Sebocystomatosis
: code 841
Seborrhea-like dermatitis withpsoriasiform elements
: code 168606
Seborrheic pemphigus
: code 79480
SEC23B-CDG
: code 98873
Seckel syndrome
: code 808
Second branchial cleft anomaly
: code 141022
Second branchial cleft cyst
: code 141022
Second branchial cleft fistula
: code 141022
Secondary acute transverse myelitis
: code 139420
Secondary amyloidosis
: code 85445
Secondary central precociouspuberty
: code 169618
Secondary HES
: code 314962
Secondary hypereosinophilicsyndrome
: code 314962
Secondary hypertrophicosteoperiostosis with pernio
: code 2615
Secondary hypoparathyroidism dueto impaired parathormon secretion
: code 140286
Secondary intestinallymphangiectasia
: code 90363
Secondary non-traumatic avascularnecrosis
: code 399180
Secondary non-traumatic AVN
: code 399180
Secondary non-tropical sprue
: code 3452
Secondary PAN
: code 439746
Secondary PAP
: code 420259
Secondary periarteritis nodosa
: code 439746
Secondary polyarteritis nodosa
: code 439746
Secondary pulmonary alveolarproteinosis
: code 420259
Secondary pulmonaryhemosiderosis
: code 99930
Secondary sclerosing cholangitis
: code 447774
Secondary short bowel syndrome
: code 95427
Secondary syringomyelia
: code 99857
SECORD
: code 364055
SED Stanescu type
: code 459051
SED-BDS
: code 163654
SEDC
: code 94068
Sedlackova syndrome
: code 567
Seemanova syndrome type 2
: code 647
Seemanova-Lesny syndrome
: code 2528
SEGA
: code 251618
Seghers syndrome
: code 2759
Segmental odontomaxillarydysplasia
: code 67039
Segmental outgrowth-lipomatosis- arteriovenous malformation-epidermal nevus syndrome
: code 137608
Segmental progressive overgrowth syndrome with fibroadiposehyperplasia
: code 314662
SEI
: code 455
Seitelberger disease
: code 35069
Seizures-intellectual disability dueto hydroxylysinuria syndrome
: code 79156
Seizures-scoliosis-macrocephalysyndrome
: code 466926
Seizures-sensorineural deafness- ataxia-intellectual disability-electrolyte imbalance syndrome
: code 199343
Selective cobalamin malabsorptionwith proteinuria
: code 35858
Selective IgG subclass deficiency
: code 183675
Selective IgM deficiency
: code 331235
Selective immunoglobulin Mdeficiency
: code 331235
Selective pituitary resistance tothyroid hormone
: code 165994
Selective tooth agenesis
: code 99798
Self-healing collodion baby
: code 281122
Self-healing papular mucinosis
: code 90397
Self-healing squamous epitheliomatype 1
: code 65748
Self-improving collodion baby
: code 281122
Self-improving congenitalichthyosis
: code 281122
Selig-Benacerraf-Greene syndrome
: code 1768
Sellars-Beighton syndrome
: code 3232
Semantic dementia
: code 100069
Semantic primary progressiveaphasia
: code 100069
Semantic variant PPA
: code 100069
SEMD type 2
: code 93356
SEMD aggrecan type
: code 171866
SEMD Genevive type
: code 168454
SEMD Irapa type
: code 93351
SEMD MATN3-related
: code 156728
SEMD matrilin-3 type
: code 156728
SEMD Missouri type
: code 93356
SEMD Shohat type
: code 93352
SEMD-JL
: code 93359
SEMD-MD
: code 93360
SEMDG
: code 168454
SEMDJL1
: code 93359
SEMDJL2
: code 93360
Semicircular canal dehiscencesyndrome
: code 420402
Semicircular lipoatrophy
: code 90160
Semilobar holoprosencephaly
: code 220386
Seminoma of testis
: code 842
Seminomatous germ cell tumor oftestis
: code 842
SENDA
: code 329284
Senear-Usher syndrome
: code 79480
Senescent T-cells- lymphadenopathy- immunodeficiency syndrome due top110delta-activating mutation
: code 397596
Sengers syndrome
: code 1369
Sengers-Hamel-Otten syndrome
: code 2183
Senile systemic amyloidosis
: code 330001
Senior syndrome
: code 1292
Senior-Boichis syndrome
: code 84081
Senior-Loken syndrome
: code 3156
Sensenbrenner syndrome
: code 1515
Sensorineural deafness with dilatedcardiomyopathy
: code 217622
Sensorineural deafness with imperforate anus and hypoplasticthumbs
: code 857
Sensorineural hearing loss withdilated cardiomyopathy
: code 217622
Sensorineural hearing loss-cataract- skeletal anomalies-cardiomyopathysyndrome
: code 2663
Sensorineural hearing loss-earlygraying-essential tremor syndrome
: code 66633
Sensorineural hearing loss-pontobulbar palsy syndrome
: code 97229
Sensory ataxic neuropathy- dysarthria-ophthalmoparesissyndrome
: code 70595
Senter syndrome
: code 477
SEOAN due to MFN2 deficiency
: code 90118
SEOAN due to NEFL deficiency
: code 228374
Sepiapterin reductase deficiency
: code 70594
Sepsis in premature infants
: code 90051
Septate vagina
: code 180154
Septic phlebitis of the internaljugular vein
: code 137839
Septo-optic dysplasia
: code 3157
Septo-optic dysplasia spectrum
: code 3157
Septopreoptic holoprosencephaly
: code 280195
Septopreoptic HPE
: code 280195
SERKAL syndrome
: code 139466
Serotonergic syndrome
: code 43116
Serotonin storm
: code 43116
Serotonin syndrome
: code 43116
Serotonin toxicity
: code 43116
Serotonin toxidrome
: code 43116
Serotonin-producingneuroendocrine tumor of pancreas
: code 506090
Serotonin-producing pancreaticNET
: code 506090
Serotonin-producing pancreaticneuroendocrine tumor
: code 506090
Serotonin-producing PNET
: code 506090
Serous cystadenocarcinoma of thepancreas
: code 424073
Serous cystadenoma of ovary inchildhood
: code 206470
Serous or mucinous cystadenomaof childhood
: code 206470
Serous surface papillary carcinoma
: code 168829
Serpentine fibula-polycystic kidneyssyndrome
: code 955
Serpiginous choroiditis
: code 35686
Serrated polyposis
: code 157798
Servelle-Martorell syndrome
: code 75508
SeSAME syndrome
: code 199343
Setleis syndrome
: code 1807
Severe achondroplasia- developmental delay-acanthosisnigricans syndrome
: code 85165
Severe autosomal recessivemacrothrombocytopenia
: code 438207
Severe C12ORF65-related combinedoxidative phosphorylation defect
: code 254930
Severe C12ORF65-related COXPD
: code 254930
Severe Canavan disease
: code 314911
Severe combined immunodeficiency due to adenosinedeaminase deficiency
: code 277
Severe combined immunodeficiency due to ARTEMISdeficiency
: code 275
Severe combined immunodeficiency due to CARD11deficiency
: code 357237
Severe combined immunodeficiency due to completeRAG1/2 deficiency
: code 331206
Severe combined immunodeficiency due to CORO1Adeficiency
: code 228003
Severe combined immunodeficiency due to coronin-1A deficiency
: code 228003
Severe combined immunodeficiency due to CTPS1deficiency
: code 420573
Severe combined immunodeficiency due to DCLRE1Cdeficiency
: code 275
Severe combined immunodeficiency due to DNA-PKcsdeficiency
: code 317425
Severe combined immunodeficiency due to IKK2deficiency
: code 397787
Severe combined immunodeficiency due to LATdeficiency
: code 504523
Severe combined immunodeficiency due to LCKdeficiency
: code 280142
Severe combined immunodeficiency due to lymphocyte-specific protein tyrosinekinase deficiency
: code 280142
Severe combinedimmunodeficiency with leukopenia
: code 33355
Severe combined
: code 275
Severe combinedimmunodeficiency Athabaskan type
: code 275
Severe congenital encephalopathydue to MECP2 mutation
: code 209370
Severe congenital hypochromicanemia with ringed sideroblasts
: code 300298
Severe congenital hypochromicsideroblastic anemia
: code 300298
Severe congenital nemalinemyopathy
: code 171430
Severe congenital neutropenia type3
: code 99749
Severe congenital neutropenia type4
: code 331176
Severe congenital neutropenia- pulmonary hypertension-superficialvenous angiectasis syndrome
: code 331176
Severe dermatitis-multiple allergies-metabolic wastingsyndrome
: code 369992
Severe dilated cardiomyopathy dueto lamin A/C mutation
: code 300751
Severe dilated cardiomyopathywith or without myopathy
: code 300751
Severe dystrophinopathy Duchenne type
: code 98896
Severe early-childhood-onsetretinal dystrophy
: code 364055
Severe early-onset axonal neuropathy due to lightneurofilament subunit deficiency
: code 228374
Severe early-onset axonalneuropathy due to MFN2 deficiency
: code 90118
Severe early-onset axonalneuropathy due to NEFL deficiency
: code 228374
Severe early-onset obesity-insulin resistance syndrome due to SH2B1deficiency
: code 329249
Severe early-onset pulmonary alveolar proteinosis due to MARSdeficiency
: code 440427
Severe factor IX deficiency
: code 169793
Severe factor VIII deficiency
: code 169802
Severe feeding difficulties-failure tothrive-microcephaly due to ASXL3 deficiency syndrome
: code 352577
Severe generalized RDEB
: code 79408
Severe generalized recessivedystrophic epidermolysis bullosa
: code 79408
Severe growth deficiency- strabismus-extensive dermal melanocytosis-intellectual disabilitysyndrome
: code 488627
Severe Hallermann-Streiff-Franoissyndrome
: code 2109
Severe hemolytic anemia due toG6PD deficiency
: code 466026
Severe hemophilia A
: code 169802
Severe hemophilia B
: code 169793
Severe hereditary thrombophilia due to congenital protein Cdeficiency
: code 745
Severe hereditary thrombophilia due to congenital protein Sdeficiency
: code 743
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
: code 467176
Severe infantile axonal neuropathywith respiratory failure type 1
: code 98920
Severe infantile axonal neuropathywith respiratory failure type 2
: code 404521
Severe intellectual disability andprogressive spastic paraplegia
: code 280763
Severe intellectual disability- aplasia/hypoplasia of thumb andhallux syndrome
: code 420561
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxiasyndrome
: code 466688
Severe intellectual disability- epilepsy-anal anomalies-distalphalangeal hypoplasia
: code 94066
Severe intellectual disability- epilepsy-cataract syndrome due toFAR1 deficiency
: code 438178
Severe intellectual disability- epilepsy-cataract syndrome due toperoxisomal disorder
: code 438178
Severe intellectual disability- hypotonia-strabismus-coarse face-planovalgus syndrome
: code 436141
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
: code 363686
Severe intellectual disability- progressive postnatal microcephaly- midline stereotypic handmovements syndrome
: code 397933
Severe intellectual disability- progressive spastic diplegiasyndrome
: code 404473
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
: code 391307
Severe lateral tibial bowing withshort stature
: code 324307
Severe limb deficit
: code 2879
: code 397593
Severe neonatal-onsetencephalopathy with microcephaly
: code 209370
Severe neurodegenerativesyndrome due to BSCL2 deficiency
: code 363400
Severe neurodegenerativesyndrome with lipodystrophy
: code 363400
Severe neurodevelopmental disorder with feeding difficulties- stereotypic hand movement-bilateral cataract
: code 500545
Severe osteogenesis imperfecta
: code 216812
Severe phosphoribosylpyrophosphatesynthetase superactivity
: code 411543
Severe PMD
: code 280210
Severe primary trimethylaminuria
: code 468726
Severe PRPP synthetasesuperactivity: code 163703
Severe T-cell immunodeficiency- congenital alopecia-nail dystrophysyndrome
: code 169095
Severe X-linked intellectualdisability Gustavson type
: code 3078
Severe X-linked mitochondrialencephalomyopathy
: code 238329
Sex cord-stromal tumor of testis
: code 363489
Sex reversion-kidneys adrenal andlung dysgenesis syndrome
: code 139466
Szary lymphoma
: code 3162
Szary syndrome
: code 3162
SFMMP
: code 488232
SGBS
SGBS2
: code 79022
SGF
: code 457083
SGFLD syndrome
: code 2063
SGLT1 deficiency
: code 35710
SGLT2 deficiency
: code 69076
SGS
: code 2462
SGS
: code 798
Shabbir syndrome
: code 2407
Shah-Waardenburg syndrome
: code 897
Shaheen syndrome
: code 363523
Shapiro syndrome
: code 29822
Sharma-Kapoor-Ramji syndrome
: code 1506
Sharp syndrome
: code 809
SHCB
: code 281122
Sheehan syndrome
: code 91355
Sheldon-Hall syndrome
: code 1147
SHFLD syndrome
: code 3329
SHFM
: code 2440
SHFM associated with aplasia oflong bones
: code 3329
Shiga-like toxin-associated HUS
: code 90038
Shigellosis
: code 810
SHML
: code 158014
Shokeir syndrome
: code 1008
Shone complex
: code 99063
Short Achilles tendon
: code 251515
Short chain acyl-CoAdehydrogenase deficiency
: code 26792
Short fifth metacarpals-insulinresistance syndrome
: code 66518
Short limb skeletal dysplasia withSCID
: code 935
Short rib-polydactyly syndrometype 1
: code 93270
Short rib-polydactyly syndrometype 2
: code 93269
Short rib-polydactyly syndrometype 3
: code 93271
Short rib-polydactyly syndrometype 4
: code 93268
Short rib-polydactyly syndrometype 5
: code 498497
Short rib-polydactyly syndrome Beemer-Langer type
: code 93268
Short rib-polydactyly syndrome Majewski type
: code 93269
Short rib-polydactyly syndrome Saldino-Noonan type
: code 93270
Short rib-polydactyly syndrome Verma-Naumoff type
: code 93271
Short ribs-craniosynostosis-polysyndactyly syndrome
: code 1263
Short stature due to GHSRdeficiency
: code 314811
Short stature due to growthhormone qualitative anomaly
: code 629
Short stature due to growthhormone resistance
: code 633
Short stature due to growth
: code 314811
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
: code 632
Short stature due to partial GHRdeficiency
: code 314802
Short stature due to partial growthhormone receptor deficiency
: code 314802
Short stature due to primary acid-labile subunit deficiency
: code 140941
Short stature due to STAT5bdeficiency
: code 220465
Short stature Brussels type
: code 2867
Short stature-advanced bone age-early-onset osteoarthritis syndrome
: code 435804
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
: code 397623
Short stature-brachydactyly- obesity-global developmental delaysyndrome
: code 464288
Short stature-craniofacial anomalies-genital hypoplasiasyndrome
: code 2994
Short stature-deafness-neutrophil dysfunction-dysmorphismsyndrome
: code 2866
Short stature-delayed bone age due to thyroid hormone metabolismdeficiency
: code 171706
Short stature-developmental delay-congenital heart defect syndrome
: code 488618
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
: code 2332
Short stature-intellectual disability- eye anomalies-cleft lip/palatesyndrome
: code 2995
Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facialdysmorphism syndrome
: code 420794
Short stature-locking fingerssyndrome
: code 1937
Short stature-nail dysplasia- marginal palmoplantar keratoderma-oralhyperpigmentation syndrome
: code 423454
Short stature-onychodysplasia- facial dysmorphism-hypotrichosissyndrome
: code 314394
Short stature-optic atrophy-Pelger-Hut anomaly syndrome
: code 391677
Short stature-Pierre Robin sequence-cleft mandible-handanomalies clubfoot syndrome
: code 3102
Short stature-Pierre Robin
: code 3102
Short stature-pituitary and cerebellar defects-small sella turcicasyndrome
: code 85442
Short stature-valvular heart disease-characteristic faciessyndrome
: code 2868
Short stature-webbed neck-heartdisease syndrome
: code 2865
Short stature-wormian bones-dextrocardia syndrome
: code 2863
SHORT syndrome
: code 3163
Short tarsus-absence of lowereyelashes syndrome
: code 2832
Short tendo calcaneus
: code 251515
Short ulna-dysmorphism- hypotonia-intellectual disabilitysyndrome
: code 357175
Short-lasting unilateral neuralgiform headache attacks withconjunctival injection and tearing
: code 57145
Short-limb skeletal dysplasia withsevere combined immunodeficiency
: code 935
Short/branched-chain acyl-coAdehydrogenase deficiency
: code 2580
Shoulder and thorax deformity-congenital heart disease syndrome
: code 392
SHOX-related short stature
: code 314795
Shprintzen syndrome
: code 567
Shprintzen-Goldberg syndrome
: code 2462
Shulman syndrome
: code 3165
Shwachman syndrome
: code 811
Shwachman-Bodian-Diamondsyndrome
: code 811
Shwachman-Diamond syndrome
: code 811
Sialuria
: code 3166
Sialuria French type
: code 3166
SIANRF
: code 98920
SIBIDS syndrome
: code 33364
sIBM
: code 611
SICI
: code 281122
Sickle cell anemia
: code 232
Sickle cell disease
: code 232
Sickle cell-beta-thalassemia diseasesyndrome
: code 251359
Sickle cell-hemoglobin C diseasesyndrome
: code 251365
Sickle cell-hemoglobin D diseasesyndrome
: code 251370
Sickle cell-hemoglobin E disease
: code 251375
Sickness of disembarkment
: code 210272
SICRET syndrome
: code 838
SIDDT
: code 168593
Sideropenic dysphagia
: code 54028
Siegler-Brewer-Carey syndrome
: code 3167
Siewert syndrome
: code 244
SIFD syndrome
: code 369861
Silent pituitary adenoma
: code 314786
Silent sinus syndrome
: code 71276
Sillence syndrome
: code 3168
Silver staining
: code 60014
Silver syndrome
: code 100998
Silver-Russell dwarfism
: code 813
Silver-Russell syndrome
: code 813
Silver-Russell syndrome due to7p11.2-p13 microduplication
: code 231137
Silver-Russell syndrome due to7p11.2p13 microduplication
: code 231137
Silver-Russell syndrome due to11p15 microduplication
: code 231144
Silver-Russell syndrome due to apoint mutation
: code 397590
Silver-Russell syndrome due to animprinting defect of 11p15
: code 231140
Silver-Russell syndrome due todup(7)(p11.2p13)
: code 231137
Silver-Russell syndrome due to maternal uniparental disomy ofchromosome 7
: code 96182
Silver-Russell syndrome due to maternal uniparental disomy ofchromosome 11
: code 231147
Silver-Russell syndrome due totrisomy 7p11.2-p13
: code 231137
Silver-Russell syndrome due totrisomy 7p11.2p13
: code 231137
Simosa craniofacial syndrome
: code 1968
Simosa-Penchaszadeh-Bustossyndrome
: code 1968
Simple cryoglobulinemia
: code 91139
Simpson dysmorphia syndrome
: code 373
Simpson-Golabi-Behmel syndrome
: code 373
Simpson-Golabi-Behmel syndrometype 1
: code 373
Simpson-Golabi-Behmel syndrometype 2
: code 79022
SIN3A-related intellectual disabilitysyndrome
: code 500163
SIN3A-related intellectual disabilitysyndrome due to a point mutation
: code 500166
Sinding-Larsen-Johansson disease
: code 97337
Singh-Williams-McAlister syndrome
: code 50809
Single upper central incisor
: code 2286
Single-organ PAN
: code 439755
Single-organ periarteritis nodosa
: code 439755
Single-organ polyarteritis nodosa
: code 439755
Singleton-Merten dysplasia
: code 85191
Singleton-Merten syndrome
: code 85191
Sino-auricular heart block
: code 1260
Sinoatrial node dysfunction anddeafness
: code 324321
Sinus histiocytosis with massivelymphadenopathy
: code 158014
Sinusoidal obstruction syndrome
: code 890
Sipple syndrome
: code 247698
Sirenomelia
: code 3169
Sitosterolemia
: code 2882
Situs ambiguous
: code 157769
Situs ambiguus
: code 157769
Situs inversus
: code 101063
Situs inversus totalis
: code 101063
SIX2-related FND
: code 488437
SIX2-related frontonasal dysplasia
: code 488437
Sjgren-Larsson syndrome
: code 816
SJS
: code 800
SJS1
: code 800
SJS2
: code 3206
SJS-TEN
: code 95455
SJS/TEN overlap syndrome
: code 506784
Skeletal dysplasia Greenberg type
: code 1426
Skeletal dysplasia-brachydactylysyndrome
: code 2565
Skeletal dysplasia-epilepsy-shortstature syndrome
: code 1858
Skeletal dysplasia-T cell immunodeficiency-developmentaldelay syndrome
: code 508533
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
: code 477831
Skin fragility-woolly hair- palmoplantar hyperkeratosissyndrome
: code 293165
Skin fragility-woolly hair- palmoplantar keratodermasyndrome
: code 293165
Skin infectious botulism
: code 178475
Skin toxin-mediated botulism
: code 178475
SLC6A8 deficiency
: code 52503
SLC35A1-CDG
: code 238459
SLC35A2-CDG
: code 356961
SLC35A3-CDG
: code 370943
SLC35C1-CDG
: code 99843
SLC35D1-CDG
: code 3144
SLC39A8 deficiency
: code 468699
SLC39A8-CDG
: code 468699
SLE pediatric onset
: code 93552
Sleeping sickness
: code 3385
Slipped capital femoral epiphysis
: code 399329
Slipped upper femoral epiphysis
: code 399329
SLK
: code 88633
SLOS
: code 818
SLSJ-COX deficiency
: code 70472
SLSN
: code 3156
Sly disease
: code 584
SM-AHN
: code 98849
SM-AHNMD
: code 98849
SMA
: code 70
SMA1
: code 83330
SMA2
: code 83418
SMA3
: code 83419
SMA4
: code 83420
SMA type 1
: code 83330
SMA type 2
: code 83418
SMA type 3
: code 83419
SMA type 4
: code 83420
SMA type I
: code 83330
SMA type II
: code 83418
SMA type III
: code 83419
SMA type IV
: code 83420
SMA-I
: code 83330
SMA-II
: code 83418
SMA-III
: code 83419
SMA-IV
: code 83420
SMABF
: code 486811
SMAFK
: code 209335
SMALED
: code 363447
SMALED1
: code 209341
SMALED2
: code 363454
Small cell bladder cancer
: code 284400
Small cell bladder carcinoma
: code 284400
Small cell carcinoma of the bladder
: code 284400
Small cell carcinoma of the ovary
: code 370396
Small cell carcinoma of the urinarybladder
: code 284400
Small cell lung cancer
: code 70573
Small cell ovarian carcinoma
: code 370396
Small infarctions of cochlear retinaland encephalic tissue
: code 838
Small intestinal atresia
: code 1201
Small lymphocytic lymphoma
: code 67038
Small non-cleaved cell lymphoma
: code 543
Small patella syndrome
: code 1509
SMARCA4-deficient sarcoma ofthorax
: code 466962
SMARCA4-deficient thoracicsarcoma
: code 466962
SMARD1
: code 98920
SMARD2
: code 404521
SMAX1
: code 481
SMAX2
: code 1145
SMAX3
: code 139557
SMCD
: code 98959
SMD-CRD
: code 85167
SMEI
: code 33069
Smith-Fineman-Myers syndrome
: code 93974
Smith-Kingsmore syndrome
: code 457485
Smith-Lemli-Opitz syndrome
: code 818
Smith-Magenis syndrome
: code 819
Smith-McCort dysplasia
: code 178355
SMMCI
: code 2286
SMO deficiency
: code 488168
Smouldering systemic mastocytosis
: code 158775
SMS
: code 3198
SMZL
: code 86854
Snakebite envenomation
: code 449285
Sneddon syndrome
: code 820
Sneddon-Wilkinson disease
: code 48377
Snowflake vitreoretinaldegeneration
: code 91496
Snyder-Robinson syndrome
: code 3063
SOD
: code 3157
SOD
: code 67039
Sodium channelopathy-relatedsmall fiber neuropathy
: code 306577
Sodoku
: code 99903
SOFT syndrome
: code 314394
Soft tissue perineurioma
: code 100002
Sohval-Soffer syndrome
: code 2234
SOLAMEN syndrome
: code 137608
Solar urticaria
: code 97230
Solid pseudopapillary carcinoma ofthe pancreas
: code 424065
Solid pseudopapillary neoplasm ofthe pancreas
: code 424065
Solitary bone cyst
: code 83468
Solitary fibrous tumor
: code 2126
Solitary mastocytoma
: code 79455
Solitary median maxillary centralincisor syndrome
: code 2286
Solitary necrotic nodule of the liver
: code 100035
Solitary plasmacytoma
: code 86855
Solitary rectal ulcer syndrome
: code 209964
Solomon syndrome
: code 2612
Somatolactotropinoma
: code 314769
Somatomammotropinoma
: code 314769
Somatoprolactinoma
: code 314769
Somatostatinoma
: code 97283
Sommer-Hines syndrome
: code 2564
Sommer-Rathbun-Battles syndrome
: code 1064
Sommer-Young-Wee-Fryesyndrome
: code 1529
Sonoda syndrome
: code 1355
SOPH syndrome
: code 391677
Sorsby pseudoinflammatory fundusdystrophy
: code 59181
Sorsby syndrome
: code 1471
Sotos syndrome
: code 821
Sotos syndrome 2
: code 420179
Southeast Asian ovalocytosis
: code 98868
SPARCA
: code 352403
SPARCA1
: code 352403
Sparse hair-short stature-skinanomalies syndrome
: code 79132
Spasmus nutans
: code 279882
Spastic ataxia with congenitalmiosis
: code 1182
Spastic ataxia-corneal dystrophysyndrome
: code 2572
Spastic ataxia-ocular anomaliessyndrome
: code 2572
Spastic gait type 2
: code 99015
Spastic paraparesis type 2
: code 99015
Spastic paraparesis-amyopathy- cataracts-gastroesophageal refluxsyndrome
: code 100990
Spastic paraparesis-deafnesssyndrome
: code 2815
Spastic paraparesis-vitiligo- premature graying-characteristicfacies syndrome
: code 101003
Spastic paraplegia due toneuropathy target esterase mutation
: code 139480
Spastic paraplegia due to NTEmutation
: code 139480
Spastic paraplegia due to partialTFG deficiency
: code 431329
Spastic paraplegia type 2
: code 99015
Spastic paraplegia type 7
: code 99013
Spastic paraplegia-amyotrophy ofhands and feet
: code 100998
Spastic paraplegia-epilepsy-intellectual disability syndrome
: code 2816
Spastic paraplegia-facial-cutaneouslesions syndrome
: code 2819
Spastic paraplegia-glaucoma-intellectual disability syndrome
: code 2818
Spastic paraplegia-intellectual disability-thin corpus callosumsyndrome
: code 2822
Spastic paraplegia-nephritis-deafness syndrome
: code 2820
Spastic paraplegia-neuropathy-poikiloderma syndrome
: code 2821
Spastic paraplegia-optic atrophy-neuropathy syndrome
: code 320406
Spastic paraplegia-Paget disease ofbone syndrome
: code 329475
Spastic paraplegia-precociouspuberty syndrome
: code 2826
Spastic paraplegia-psychomotorretardation-seizures syndrome
: code 464282
Spastic paraplegia-retinaldegeneration syndrome
: code 100996
Spastic paraplegia-severe developmental delay-epilepsysyndrome
: code 464282
Spastic quadriplegia-retinitis pigmentosa-intellectual disabilitysyndrome
: code 3011
Spastic quadriplegia-thin corpus callosum-progressive postnatalmicrocephaly syndrome
: code 447997
Spastic quadriplegic cerebral palsy
: code 210141
Spastic tetraplegia-retinitis pigmentosa-intellectual disabilitysyndrome
: code 3011
Spastic tetraplegia-thin corpus callosum-progressive postnatalmicrocephaly syndrome
: code 447997
Spasticity-ataxia-gait anomaliessyndrome
: code 401866
SPAX1
: code 251282
SPAX2
: code 397946
SPAX3
: code 314603
SPAX4
: code 254343
SPAX5
: code 313772
SPAX6
: code 98
SPAX7
: code 1182
SPCD
: code 158
SPD1
: code 295195
SPD2
: code 295197
SPD3
: code 295199
SPD Debeer type
: code 295197
SPD Malik type
: code 295199
SPD Vordingborg type
: code 295195
Spectrin-associated autosomalrecessive cerebellar ataxia
: code 352403
Spectrin-associated autosomalrecessive cerebellar ataxia type 1
: code 352403
Speech and language disorder withorofacial dyspraxia
: code 209908
Speech-language disorder type 1
: code 209908
Spellacy-Gibbs-Watts syndrome
: code 2909
SPEMR
: code 2816
SPENCD
: code 1855
SPENCDI
: code 1855
Spermatocytic seminoma
: code 99865
SPG1
: code 306617
SPG2
: code 99015
SPG4
: code 100985
SPG5A
: code 100986
SPG6
: code 100988
SPG7
: code 99013
SPG8
: code 100989
SPG9
: code 100990
SPG10
: code 100991
SPG11
: code 2822
SPG12
: code 100993
SPG13
: code 100994
SPG14
: code 100995
SPG15
: code 100996
SPG16
: code 100997
SPG17
: code 100998
SPG18
: code 209951
SPG19
: code 100999
SPG20
: code 101000
SPG21
: code 101001
SPG23
: code 101003
SPG24
: code 101004
SPG25
: code 101005
SPG26
: code 101006
SPG27
: code 101007
SPG28
: code 101008
SPG29
: code 101009
SPG30
: code 101010
SPG31
: code 101011
SPG32
: code 171622
SPG34
: code 171607
SPG35
: code 171629
SPG36
: code 320365
SPG37
: code 171612
SPG38
: code 171617
SPG39
: code 139480
SPG41
: code 320355
SPG42
: code 171863
SPG43
: code 320370
SPG44
: code 320401
SPG45
: code 320396
SPG46
: code 320391
SPG48
: code 306511
SPG49
: code 320385
SPG53
: code 319199
SPG54
: code 320380
SPG55
: code 320375
SPG56
: code 320411
SPG57
: code 431329
SPG58
: code 397946
SPG59
: code 401795
SPG60
: code 401800
SPG61
: code 401780
SPG62
: code 401785
SPG63
: code 401805
SPG64
: code 401810
SPG65
: code 320396
SPG66
: code 401815
SPG67
: code 401820
SPG68
: code 401825
SPG69
: code 401830
SPG70
: code 401835
SPG71
: code 401840
SPG72
: code 401849
SPG73
: code 444099
SPG74
: code 468661
SPG75
: code 459056
SPG76
: code 488594
SPG77
: code 466722
Spheroid body myopathy
: code 268129
Spherophakia-brachymorphiasyndrome
: code 3449
Spherulocytosis
: code 306553
Spielmeyer-Vogt disease
: code 79264
Spigelian hernia-cryptorchidismsyndrome
: code 314432
Spina bifida aperta
: code 268369
Spina bifida-hypospadias syndrome
: code 3176
Spinal arteriovenous metamericsyndrome
: code 53721
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
: code 1217
Spinal cord injury
: code 90058
Spinal muscular atrophy witharthrogryposis
: code 1145
Spinal muscular atrophy withrespiratory distress type 1
: code 98920
Spinal muscular atrophy withrespiratory distress type 2
: code 404521
Spinal muscular atrophy adult form
: code 83420
Spinal muscular atrophy-Dandy- Walker malformation-cataractssyndrome
: code 73245
Spinal muscular atrophy- progressive myoclonic epilepsysyndrome
: code 2590
Spindle cell hemangioendothelioma
: code 210584
Spindle cell hemangioma
: code 210584
Spinocerebellar ataxia anderythrokeratodermia
: code 1955
Spinocerebellar ataxia autosomalrecessive type 16
: code 412057
Spinocerebellar ataxia autosomalrecessive type 17
: code 453521
Spinocerebellar ataxia autosomalrecessive type 23
: code 404493
Spinocerebellar ataxia type 1
: code 98755
Spinocerebellar ataxia type 2
: code 98756
Spinocerebellar ataxia type 3
: code 98757
Spinocerebellar ataxia type 3 Joseph type
: code 276238
Spinocerebellar ataxia type 3 Machado type
: code 276244
Spinocerebellar ataxia type 4
: code 98765
Spinocerebellar ataxia type 5
: code 98766
Spinocerebellar ataxia type 6
: code 98758
Spinocerebellar ataxia type 7
: code 94147
Spinocerebellar ataxia type 8
: code 98760
Spinocerebellar ataxia type 10
: code 98761
Spinocerebellar ataxia type 11
: code 98767
Spinocerebellar ataxia type 12
: code 98762
Spinocerebellar ataxia type 13
: code 98768
Spinocerebellar ataxia type 14
: code 98763
Spinocerebellar ataxia type 15/16
: code 98769
Spinocerebellar ataxia type 16
: code 98769
Spinocerebellar ataxia type 17
: code 98759
Spinocerebellar ataxia type 18
: code 98771
Spinocerebellar ataxia type 19/22
: code 98772
Spinocerebellar ataxia type 20
: code 101110
Spinocerebellar ataxia type 21
: code 98773
Spinocerebellar ataxia type 22
: code 98772
Spinocerebellar ataxia type 23
: code 101108
Spinocerebellar ataxia type 25
: code 101111
Spinocerebellar ataxia type 26
: code 101112
Spinocerebellar ataxia type 27
: code 98764
Spinocerebellar ataxia type 28
: code 101109
Spinocerebellar ataxia type 29
: code 208513
Spinocerebellar ataxia type 30
: code 211017
Spinocerebellar ataxia type 31
: code 217012
Spinocerebellar ataxia type 32
: code 276183
Spinocerebellar ataxia type 34
: code 1955
Spinocerebellar ataxia type 35
: code 276193
Spinocerebellar ataxia type 36
: code 276198
Spinocerebellar ataxia type 37
: code 363710
Spinocerebellar ataxia type 38
: code 423296
Spinocerebellar ataxia type 40
: code 423275
Spinocerebellar ataxia type 41
: code 458798
Spinocerebellar ataxia type 42
: code 458803
Spinocerebellar ataxia type 43
: code 497764
Spinocerebellar ataxia with alteredvertical eye movements
: code 363710
Spinocerebellar ataxia with axonalneuropathy type 1
: code 94124
Spinocerebellar ataxia with axonalneuropathy type 2
: code 64753
Spinocerebellar ataxia withepilepsy
: code 254881
Spinocerebellar ataxia Thomastype
: code 276241
Spinocerebellar ataxia-amyotrophy-deafness syndrome
: code 2074
Spinocerebellar ataxia-dysmorphism syndrome
: code 1185
Spinocerebellar degeneration-corneal dystrophy syndrome
: code 3177
Spirillary rat-bite fever
: code 99903
Spitzer-Weinstein syndrome
: code 757
Splenic diffuse red pulp lymphoma
: code 300869
Splenic diffuse red pulp small B-celllymphoma
: code 300869
Splenic marginal zone lymphoma
: code 86854
Splenogonadal fusion-limb defects-micrognathia syndrome
: code 2063
Splenomegaly-neutropenia-rheumatoid arthritis syndrome
: code 47612
Split cord malformation type 1
: code 1671
Split foot deformity- mandibulofacial dysostosissyndrome
: code 2439
Split hand foot malformation
: code 2440
Split hand with obstructive uropathy spina bifida anddiaphragmatic defects
: code 2437
Split hand-split foot-deafnesssyndrome
: code 71271
Split hand-urinary anomalies-spinabifida syndrome
: code 2437
Split hand/foot malformation withlong bone deficiency
: code 3329
Split hand/split foot-mandibularhypoplasia syndrome
: code 958
Split hand/split foot-nystagmussyndrome
: code 2329
Split notochord syndrome
: code 1756
Split-foot malformation-mesoaxialpolydactyly syndrome
: code 488232
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
: code 488232
Split-hand/foot malformation associated with aplasia of longbones
: code 3329
SPOAN
: code 320406
SPONASTRIME dysplasia
: code 93357
Spondylar and nasal changes with striations of the metaphyses(SPONASTRIME) dysplasia
: code 93357
Spondylo-humero-femoraldysplasia
: code 1190
Spondylo-megaepiphyseal-metaphyseal dysplasia
: code 228387
Spondylo-ocular syndrome
: code 85194
Spondylocamptodactyly syndrome
: code 3180
Spondylocarpotarsal synostosis
: code 3275
Spondylocostal dysostosis-anal atresia-genitourinary malformationsyndrome
: code 94095
Spondylocostal dysostosis- hypospadias-intellectual disabilitysyndrome
: code 329252
Spondyloenchondrodysplasia
: code 1855
Spondyloenchondrodysplasia withimmune dysregulation
: code 1855
Spondyloenchondromatosis
: code 1855
Spondyloepimetaphyseal dysplasiacongenita Strudwick type
: code 93346
Spondyloepimetaphyseal dysplasia
: code 93356
Spondyloepimetaphyseal dysplasiawith joint laxicity Hall type
: code 93360
Spondyloepimetaphyseal dysplasiawith joint laxity
: code 93359
Spondyloepimetaphyseal dysplasiawith joint laxity type 1
: code 93359
Spondyloepimetaphyseal dysplasiawith joint laxity type 2
: code 93360
Spondyloepimetaphyseal dysplasiawith joint laxity Beighton type
: code 93359
Spondyloepimetaphyseal dysplasiawith joint laxity leptodactylic type
: code 93360
Spondyloepimetaphyseal dysplasiawith multiple dislocations
: code 93360
Spondyloepimetaphyseal dysplasiawith multiple dislocations Hall type
: code 93360
Spondyloepimetaphyseal dysplasia aggrecan type
: code 171866
Spondyloepimetaphyseal dysplasia anauxetic type
: code 93347
Spondyloepimetaphyseal dysplasia Bieganski type
: code 168448
Spondyloepimetaphyseal dysplasia Genevive type
: code 168454
Spondyloepimetaphyseal dysplasia Handigodu type
: code 99642
Spondyloepimetaphyseal dysplasia Irapa type
: code 93351
Spondyloepimetaphyseal dysplasia Isidor type
: code 370015
Spondyloepimetaphyseal dysplasia matrilin-3 type
: code 156728
Spondyloepimetaphyseal dysplasia Menger type
: code 93347
Spondyloepimetaphyseal dysplasia Missouri type
: code 93356
Spondyloepimetaphyseal dysplasia Pakistani type
: code 93282
Spondyloepimetaphyseal dysplasia PAPSS2 type
: code 93282
Spondyloepimetaphyseal dysplasia Shohat type
: code 93352
: code 168451
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
: code 168443
Spondyloepimetaphyseal dysplasia- short limb-abnormal calcificationsyndrome
: code 93358
Spondyloepiphyseal dysplasiacongenita
: code 94068
Spondyloepiphyseal dysplasia tarda
: code 93284
Spondyloepiphyseal dysplasia
: code 163665
Spondyloepiphyseal dysplasia tarda-progressive arthropathysyndrome
: code 1159
Spondyloepiphyseal dysplasia with congenital joint dyslocations CHST3type
: code 263463
Spondyloepiphyseal dysplasia Byers type
: code 93284
Spondyloepiphyseal dysplasia Cantu type
: code 163654
Spondyloepiphyseal dysplasia MacDermot type
: code 163668
Spondyloepiphyseal dysplasia Maroteaux type
: code 263482
Spondyloepiphyseal dysplasia Nishimura type
: code 163649
Spondyloepiphyseal dysplasia Omani type
: code 263463
Spondyloepiphyseal dysplasia Reardon type
: code 163662
Spondyloepiphyseal dysplasia Stanescu type
: code 459051
Spondyloepiphyseal dysplasia- brachydactyly-speech disordersyndrome
: code 163654
Spondyloepiphyseal dysplasia- craniosynostosis-cleft palate- cataract-intellectual disabilitysyndrome
: code 163649
Spondyloepiphyseal dysplasia- myopia-sensorineural deafnesssyndrome
: code 163668
Spondyloepiphyseal dysplasia-nephrotic syndrome
Spondyloepiphyseal dysplasia- retinal dystrophy-immunodeficiencysyndrome
: code 353298
Spondylometaphyseal dysplasiawith combined immunodeficiency
: code 1855
Spondylometaphyseal dysplasiawith enchondromatous changes
: code 1855
Spondylometaphyseal dysplasiawith severe genu valgum
: code 93316
Spondylometaphyseal dysplasia A4type
: code 168555
Spondylometaphyseal dysplasia Algerian type
: code 93316
Spondylometaphyseal dysplasia ‘corner fracture’ type
: code 93315
Spondylometaphyseal dysplasia
: code 370019
Spondylometaphyseal dysplasia Golden type
: code 168544
Spondylometaphyseal dysplasia Kozlowski type
: code 93315
Spondylometaphyseal dysplasia- bowed forearms-facialdysmorphism syndrome
: code 168552
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
: code 85167
Spondyloperipheral dysplasia-shortulna syndrome
: code 1856
Spongy degeneration of the brain
: code 141
Spongy myocardium
: code 54260
Spontaneous cerebrospinal fluidleak
: code 443180
Spontaneous intracranialhypotension
: code 443180
Spontaneous periodic hypothermia
: code 29822
Sporadic adult-onset ataxia ofunknown etiology
: code 247234
Sporadic Creutzfeldt-Jakob disease
: code 204
Sporadic fetal brain disruptionsequence
: code 1665
Sporadic hyperekplexia
: code 306776
Sporadic IBSN
: code 225147
Sporadic idiopathic nephrosis
: code 84271
Sporadic idiopathic steroid-resistant nephrotic syndrome
: code 84271
Sporadic idiopathic steroid- resistant nephrotic syndrome withcollapsing glomerulopathy
: code 97555
Sporadic idiopathic steroid- resistant nephrotic syndrome withdiffuse mesangial proliferation
: code 93222
Sporadic idiopathic steroid- resistant nephr
Sporadic idiopathic steroid- resistant nephrotic syndrome withfocal segmental glomerulosclerosis
: code 93218
Sporadic idiopathic steroid- resistant nephrotic syndrome withfocal segmental hyalinosis
: code 93218
Sporadic idiopathic steroid- resistant nephrotic syndrome withminimal changes
: code 93221
Sporadic inclusion body myositis
: code 611
Sporadic infantile bilateral striatal
: code 225147
Sporadic infantile striatonigraldegeneration
: code 225147
Sporadic infantile striatonigralnecrosis
: code 225147
Sporadic olivopontocerebellaratrophy type 1
: code 227510
Sporadic OPCA type 1
: code 227510
Sporadic pheochromocytoma
: code 276624
: code 443057
Sporadic secreting paraganglioma
: code 276627
Sporotrichosis
: code 826
SPPRS syndrome
: code 464282
SPR deficiency
: code 70594
Spranger-Wiedemann disease
: code 94068
Sprengel deformity
: code 3181
Spring catarrh
: code 70476
Sprinz-Nelson syndrome
: code 234
SPS
: code 3198
SPSMA
: code 431255
SPTCL
: code 86884
SQTS
: code 51083
Squamous cell carcinoma of gallbladder and extrahepatic biliarytract
: code 424996
Squamous cell carcinoma ofgallblader and EBT
: code 424996
Squamous cell carcinoma of headand neck
: code 67037
Squamous cell carcinoma of liverand IBT
: code 424975
Squamous cell carcinoma of liverand intrahepatic biliary tract
: code 424975
Squamous cell carcinoma of salivaryglands
: code 500481
Squamous cell carcinoma of theanal canal
: code 424019
Squamous cell carcinoma of thecervix uteri
: code 213767
Squamous cell carcinoma of thecolon
: code 423994
Squamous cell carcinoma of thecorpus uteri
: code 213716
Squamous cell carcinoma of theesophagus
: code 99977
Squamous cell carcinoma of thehypopharynx
: code 494547
Squamous cell carcinoma of thelarynx
: code 494550
Squamous cell carcinoma of the lip
: code 502366
Squamous cell carcinoma of the
: code 500464
Squamous cell carcinoma of thenasal cavity and sinuses
: code 500464
Squamous cell carcinoma of thenasopharynx
: code 150
Squamous cell carcinoma of theoral cavity
: code 502363
Squamous cell carcinoma of theoral tongue
: code 457252
Squamous cell carcinoma of theoropharynx
: code 500478
Squamous cell carcinoma of thepancreas
: code 424039
Squamous cell carcinoma of thepenis
: code 398058
Squamous cell carcinoma of therectum
: code 424002
Squamous cell carcinoma of thesmall bowel
: code 423968
Squamous cell carcinoma of thesmall intestine
: code 423968
Squamous cell carcinoma of thestomach
: code 418959
Squamous cell carcinoma of thevulva
: code 494448
SRD5A3-CDG
: code 324737
SREAT
: code 83601
SSA
: code 330001
SSADH deficiency
: code 22
SSM syndrome
: code 466926
SSPE
: code 2806
SSPS
: code 50944
SSR4-CDG
: code 370927
SSS
: code 2323
SSSS
: code 36236
St. Louis encephalitis
: code 83484
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
: code 502434
Stalker-Chitayat syndrome
: code 2454
Stanescu osteosclerosis
: code 1798
Stapedo-vestibular ankylosis
: code 3235
Stapes ankylosis with broad thumbsand toes
: code 140917
Staphylococcal necrotizingpneumonia
: code 36238
Staphylococcal scalded skinsyndrome
: code 36236
Staphylococcal scarlet fever
: code 36235
Staphylococcal toxic-shocksyndrome
: code 99919
Staphylococcal TSS
: code 99919
STAR syndrome
: code 140952
Stargardt 1
: code 827
Stargardt disease
: code 827
Stark-Kaeser syndrome
: code 85146
Startle epilepsy
: code 166427
STAT1 deficiency
: code 391311
STAT3 deficiency
: code 2314
STAT3-related early-onsetmultisystem autoimmune disease
: code 438159
Static encephalopathy of childhoodwith neurdegeneration in adulthood
: code 329284
Steatocystoma multiplex
: code 841
Steatocystoma multiplex-natalteeth syndrome
: code 3184
Steel syndrome
: code 438117
Steele-Richardson-Olszewskidisease
: code 240071
Steely hair disease
: code 565
Steely hair syndrome
: code 565
Steinert disease
: code 273
Steinert myotonic dystrophy
: code 273
Steinfeld syndrome
: code 3186
Stem cell leukemia/lymphoma
: code 168953
Stenosis or atresia of the coronaryostium
: code 99087
Sterile multifocal osteomyelitiswith periostitis and pustulosis
: code 210115
Stern-Lubinsky-Durrie syndrome
: code 3194
Sternal malformation-vasculardysplasia syndrome
: code 42775
Steroid 5-alpha-reductasedeficiency
: code 753
Steroid dehydrogenase deficiency-dental anomalies syndrome
: code 3196
Steroid sulfatase deficiency
: code 461
Steroid-responsive encephalopathy associated with autoimmunethyroiditis
: code 83601
Steroid-sensitive MCNS
: code 93207
Steroid-sensitive nephroticsyndrome without renal biopsy
: code 69061
Sterol 27-hydroxylase deficiency
: code 909
Sterol C5-desaturase deficiency
: code 46059
Sterol-C4-methyl oxidase deficiency
: code 488168
Stevens-Johnson syndrome
: code 36426
Stevens-Johnson syndrome/toxic epidermal necrolysis overlapsyndrome
: code 506784
Stevens-Johnson syndrome/toxicepidermal necrolysis spectrum
: code 95455
Stevens-Johnson/TEN overlapsyndrome
: code 506784
Stevens-Johnson/toxic epidermalnecrolysis overlap syndrome
: code 506784
Stickler syndrome
: code 828
Stickler syndrome type 1
: code 90653
Stickler syndrome type 2
: code 90654
Stickler syndrome type 3
: code 166100
Stickler syndrome non-ocular type
: code 166100
Stiff baby syndrome
: code 3197
Stiff leg syndrome
: code 443804
Stiff man syndrome
: code 3198
Stiff person syndrome and relateddisorders
: code 3198
Stiff skin syndrome
: code 2833
Still disease
: code 85414
Stilling-Turk-Duane syndrome
: code 233
Stimmler syndrome
: code 3199
STING-associated vasculopathywith onset in infancy
: code 425120
Stoelinga-de Koomen-Davissyndrome
: code 2972
Stoll-Alembik-Finck syndrome
: code 3200
Stoll-Graudel-Chauvin syndrome
: code 3074
Stoll-Kieny-Dott syndrome
: code 3201
Stoll-Lvy-Francfort syndrome
: code 2878
Stomatin-deficientcryohydrocytosis
: code 168577
Stomatocytic elliptocytosis
: code 98868
Stomatodynia
: code 353253
Stomatopyrosis
: code 353253
Stone man syndrome
: code 337
Stormorken syndrome
: code 3204
Stormorken-Sjaastad-Langsletsyndrome
: code 3204
Straddling and/or overriding mitralvalve
: code 99064
Straddling or overriding tricuspidvalve
: code 95461
Stratton-Garcia-Young syndrome
: code 1277
Stratton-Parker syndrome
: code 2863
Streptobacillary rat-bite fever
: code 99905
Streptococcal toxic-shock syndrome
: code 99918
Streptococcal TSS
: code 99918
Stress cardiomyopathy
: code 66529
Stress erythrocytosis
: code 90041
Stress polycythemia
: code 90041
Striate palmoplantar keratoderma
: code 50942
Stromal keratitis
: code 137599
Stromal sarcoma of the corpus uteri
: code 213711
Stromme syndrome
: code 506307
Strongyloidiasis
: code 76
Strmpell disease
: code 100984
STT3A-CDG
: code 370921
STT3B-CDG
: code 370924
Stuart-Prower factor deficiency
: code 328
Sturge-Weber syndrome
: code 3205
Sturge-Weber-Dimitri syndrome
: code 3205
Sturge-Weber-Krabbe angiomatosis
: code 3205
Sturge-Weber-Krabbe syndrome
: code 3205
Stve-Wiedemann dysplasia
: code 3206
Stve-Wiedemann syndrome
: code 3206
Suarez-Stickler syndrome
: code 166277
Sub-cortical nodular heterotopia
: code 101029
Subacute angiohypertrophicmyelomalacia
: code 79093
Subacute ascending necrotizingmyelitis
: code 79093
Subacute cutaneous lupuserythematosus
: code 163525
Subacute inclusion bodyencephalitis
: code 2806
Subacute inflammatorydemyelinating polyneuropathy
: code 206594
Subacute inflammatorydemyelinating polyradiculoneuropathy
: code 206594
Subacute myeloid leukemia
: code 98824
Subacute necrotizing myelitis
: code 79093
Subacute sclerosingleukoencephalitis
: code 2806
Subacute sclerosing panencephalitis
: code 2806
Subacute spongiform encephalopathy Gerstmann-Straussler type
: code 356
Subaortic course of brachiocephalicvein
: code 99113
Subaortic course of innominatevein
: code 99113
Subaortic stenosis-short staturesyndrome
: code 3191
Subcorneal pustular dermatitis
: code 48377
Subcorneal pustular dermatosis
: code 48377
Subcortical band heterotopia
: code 99796
Subcortical gliosis of Neumann
: code 313808
Subcortical laminar heterotopia
: code 99796
Subcutaneous panniculitic T-celllymphoma
: code 86884
Subcutaneous panniculitis-like T-cell lymphoma
: code 86884
Subcutaneous spherulocysticdisease
: code 306553
Subependymal giant cellastrocytoma
: code 251618
Subependymal nodular heterotopia
: code 101030
Subependymoma
: code 251639
Subepithelial amyloidosis of thecornea
: code 98957
Subepithelial mucinous cornealdystrophy
: code 98959
Submucosal cleft palate
: code 155878
Subpulmonary stenosis
: code 3190
Subtelomeric 1p36 deletion
: code 1606
Subtelomeric deletion 13q34
: code 96168
Subtotal absence of cerebellum
: code 1398
Subtotal septate uterus
: code 180129
Succinic acidemia
: code 2609
Succinic semialdehydedehydrogenase deficiency
: code 22
Succinyl-CoA acetoacetatetransferase deficiency
: code 832
Succinyl-CoA:3-ketoacid CoAtransferase deficiency
: code 832
Succinyl-CoA:3-oxoacid CoAtransferase deficiency
: code 832
Sudanophilic leukodystrophy Paelizeus-Merzbacher type
: code 702
Sudden infant death-dysgenesis ofthe testes syndrome
: code 168593
Sudden unexplained nocturnaldeath syndrome
: code 130
SUFE
: code 399329
Sugarman brachydactyly
: code 498602
Sugarman syndrome
: code 2752
Sugarman-Hager-Kulik syndrome
: code 498602
Sujansky-Leonard syndrome
: code 3412
Sulfite oxidase deficiency due tomolybdenum cofactor deficiency
: code 99732
Sulfite oxidase deficiency due to molybdenum cofactor deficiencytype A
: code 308386
Sulfite oxidase deficiency due to molybdenum cofactor deficiencytype B
: code 308393
Sulfite oxidase deficiency due to molybdenum cofactor deficiencytype C
: code 308400
Sulfocysteinuria
: code 99731
Summerskill-Walshe-Tygstrupsyndrome
: code 65682
Summertime actinic lichenoideruption
: code 254395
Summitt syndrome
: code 3210
SUNCT syndrome
: code 57145
SUNDS
: code 130
Superficial epidermolytic ichthyosis
: code 455
Superficial granular cornealdystrophy
: code 98961
Superficial hemosiderosis of thecentral nervous system
: code 247245
Superficial hemosiderosis of theCNS
: code 247245
Superficial lymphangioma
: code 79490
Superficial lymphatic malformation
: code 79490
Superficial siderosis
: code 247245
Superficial siderosis of the centralnervous system
: code 247245
Superficial siderosis of the CNS
: code 247245
Superior limbic keratoconjunctivitis
: code 88633
Superior palpebral coloboma
: code 155884
Supernumerary breasts
: code 180182
Supernumerary der(22) syndrome
: code 96170
Supernumerary nostril
: code 141096
Supernumerary phalanges
: code 295002
Supernumerary phalanges bilateral
: code 295142
Supernumerary phalanges unilateral
: code 295140
Supernumerary phalanx
: code 295002
Supernumerary phalanx bilateral
: code 295142
Supernumerary phalanx unilateral
: code 295140
Superoinferior ventricles
: code 1461
Suppurative myositis
: code 764
Supratip dysplasia
: code 466695
Supravalvular aortic stenosis
: code 3193
Supravalvular pulmonary stenosis
: code 3192
SURF1-related Charcot-Marie-Toothdisease type 4
: code 391351
SURF1-related CMT4
: code 391351
SURF1-related severe demyelinating Charcot-Marie-Toothdisease
: code 391351
Susac syndrome
: code 838
Susceptibility to infection due toTYK2 deficiency
: code 331226
Susceptibility to localized juvenileperiodontitis
: code 447740
Susceptibility to respiratory infections associated with CD8alphachain mutation
: code 169085
Susceptibility to viral andmycobacterial infections
: code 391311
SVAS
: code 3193
Sveinsson chorioretinal atrophy
: code 86813
Sweet syndrome
: code 3243
Swift disease
: code 247165
Swift-Feer disease
: code 247165
SWS
: code 3205
Swyer syndrome
: code 242
Sxt-HUS
: code 90038
Sydenham chorea
: code 306731
Symbrachydactyly of hands andfeet
: code 1570
Symmetric parietal foramina
: code 60015
Symmetrical thalamic calcifications
: code 1314
Sympathetic ophthalmia
: code 79098
Sympathetic uveitis
: code 79098
Symphalangism with multipleanomalies of hands and feet
: code 3246
Symphalangism Cushing type
: code 3250
Symphalangism-brachydactylysyndrome
: code 3237
Symptomatic form of classichemochromatosis
: code 465508
Symptomatic form of Coffin-Lowrysyndrome in female carriers
: code 276630
Symptomatic form of fragile Xsyndrome in female carrier
: code 449291
Symptomatic form ofhemochromatosis type 1
: code 465508
Symptomatic form of hemophilia Ain female carriers
: code 177926
Symptomatic form of hemophilia Bin female carriers
: code 177929
Symptomatic form of HFE-relatedhereditary hemochromatosis
: code 465508
Symptomatic form of muscular dystrophy of Duchenne and Beckerin female carriers
: code 206546
Synactyly-camptodactyly and clinodactyly of fifth fingers-bifidhalluces syndrome
: code 357332
Synaptic congenital myasthenicsyndromes
: code 98915
Syndactyly of fingers 4 and 5
: code 93404
Syndactyly type 1
: code 93402
Syndactyly type 1 Castilla type
: code 295193
Syndactyly type 1 Lueken type
: code 295189
Syndactyly type 1 Montagu type
: code 295191
Syndactyly type 1 Weidenreichtype
: code 295187
Syndactyly type 1a
: code 295187
Syndactyly type 1b
: code 295189
Syndactyly type 1c
: code 295191
Syndactyly type 1d
: code 295193
Syndactyly type 2
: code 93403
Syndactyly type 3
: code 93404
Syndactyly type 4
: code 93405
Syndactyly type 5
: code 93406
Syndactyly type 6
: code 295012
Syndactyly type 7
: code 3258
Syndactyly type 8
: code 2498
Syndactyly type 9
: code 157801
Syndactyly Malik-Percin type
: code 157801
Syndactyly mitten type
: code 295012
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifidtoes syndrome
: code 357332
Syndactyly-ectodermal dysplasia-cleft/lip palate
: code 3253
Syndactyly-polydactyly-ear lobesyndrome
: code 3259
Syndactyly-preaxial polydactyly-sternal deformity syndrome
: code 85203
Syndactyly-telecanthus-anogenitaland renal malformations syndrome
: code 140952
Syndesmodysplasic dwarfism
: code 1159
Syndrome of ocular and facial anomalies telecanthus anddeafness
: code 2143
Syndrome r(4)
: code 1447
Syndromic bile duct paucity
: code 52
Syndromic bile duct paucity due to
: code 261619
Syndromic bile duct paucity due toa NOTCH2 point mutation
: code 261629
Syndromic bile duct paucity due tomonosomy 20p12
: code 261600
Syndromic diarrhea
: code 84064
Syndromic diarrhea/Tricho-hepato-enteric syndrome
: code 84064
Syndromic microphthalmia type 3
: code 77298
Syndromic microphthalmia type 4
: code 85275
Syndromic microphthalmia type 5
: code 178364
Syndromic microphthalmia type 6
: code 139471
Syndromic microphthalmia type 7
: code 2556
Syndromic microphthalmia type 8
: code 3434
Syndromic microphthalmia type 9
: code 2470
Syndromic microphthalmia type 10
: code 77299
Syndromic microphthalmia/anophthalmia dueto OTX2 mutation
: code 178364
Syndromic multisystem autoimmune disease due to Itchdeficiency
: code 228426
Syndromic orbital borderhypoplasia
: code 98606
Syndromic recessive X-linkedichthyosis
: code 281090
Syndromic RXLI
: code 281090
Syndromic sensorineural deafness due to combined oxidativephosphorylation defect
: code 457223
Syndromic sensorineural deafnessdue to COXPD
: code 457223
Syndromic sensorineural hearingloss due to COXPD
: code 457223
Syndromic X-linked intellectualdisability 7
: code 85274
Syndromic X-linked intellectualdisability due to JARID1C mutation
: code 85279
Syndromic X-linked intellectualdisability type 10
: code 85295
Syndromic X-linked intellectualdisability type 11
: code 85286
SYNE1-related AMC
: code 319332
SYNE1-related arthrogryposismultiplex congenita
: code 319332
Syngnathia-cleft palate syndrome
: code 3263
Syngnathia-multiple anomaliessyndrome
: code 3262
Synostotic plagiocephaly
: code 35098
: code 3273
Synovialosarcoma
: code 3273
Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
: code 793
Synpolydactyly
: code 93403
Synpolydactyly type 1
: code 295195
Synpolydactyly type 2
: code 295197
Synpolydactyly type 3
: code 295199
Synpolydactyly Debeer type
: code 295197
Synpolydactyly Malik type
: code 295199
Synpolydactyly Vordingborg type
: code 295195
Synspondylism
: code 3275
Syntelencephaly
: code 93926
Syringadenoma papilliferum
: code 840
Syringocystadenoma papilliferum
: code 840
Systemic AL amyloidosis
: code 314701
Systemic capillary leak syndrome
: code 188
Systemic cystic angiomatosis-Seipsyndrome
: code 528
Systemic EBV+ T-cell LPD ofchildhood
: code 364033
Systemic EBV-positive T-cell lymphoproliferative disease ofchildhood
: code 364033
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease ofchildhood
: code 364033
Systemic karyomegaly
: code 401996
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
: code 98849
Systemic mastocytosis withassociated hematologic neoplasm
: code 98849
Systemic monochloroacetatepoisoning
: code 90069
Systemic PAN
: code 439762
Systemic periarteritis nodosa
: code 439762
Systemic polyarteritis nodosa
: code 439762
Systemic polyarthritis
: code 85414
Systemic primary carnitinedeficiency
: code 158
Systemic scleroderma
: code 90291
Systemic sclerosis
: code 90291
Systemic sclerosis sine scleroderma
: code 220407
Systemic-onset JIA
: code 85414
Systemic-onset juvenile idiopathicarthritis
: code 85414
T2 deficiency
: code 134
T-ALL
: code 99861
T-B+ SCID due toCD3delta/CD3epsilon/CD3zeta
: code 169160
T-B+ SCID due to CD45 deficiency
: code 169157
T-B+ SCID due to gamma chaindeficiency
: code 276
T-B+ SCID due to IL-7Ralphadeficiency
: code 169154
T-B+ SCID due to JAK3 deficiency
: code 35078
T-B+ severe combined immunodeficiency due toCD3delta/CD3epsilon/CD3zeta
: code 169160
T-B+ severe combined
: code 169157
T-B+ severe combined immunodeficiency due to gammachain deficiency
: code 276
T-B+ severe combined immunodeficiency due to IL-7Ralphadeficiency
: code 169154
T-B+ severe combined immunodeficiency due to JAK3deficiency
: code 35078
T-B+ severe combinedimmunodeficiency X-linked
: code 276
T-cell chronic lymphocytic leukemia
: code 86871
T-cell immunodeficiency due toRHOH deficiency
: code 324294
T-cell immunodeficiency withepidermodysplasia verruciformis
: code 324294
T-cell large granular lymphocyteleukemia
: code 86872
T-cell LGL leukemia
: code 86872
T-cell lymphoma AILD type
: code 86886
T-cell prolymphocytic leukemia
: code 86871
T-cell/histiocyte rich large B celllymphoma
: code 300857
T-LGL
: code 86872
T-PLL
: code 86871
Tabatznik syndrome
: code 1350
TAC
: code 3384
TACH syndrome
: code 447896
TAFRO syndrome
: code 457077
Takao syndrome
: code 567
Takatsuki syndrome
: code 2905
Takayasu arteritis
: code 3287
Takenouchi-Kosaki syndrome
: code 487796
Tako-Tsubo cardiomyopathy
: code 66529
Tako-Tsubo syndrome
: code 66529
Takotsubo cardiomyopathy
: code 66529
Takotsubo syndrome
: code 66529
TALDO deficiency
: code 101028
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cavasyndrome
: code 2886
Tall forehead-sparse hair-skin hyperextensibility-scoliosissyndrome
: code 217335
Tall stature-intellectual disability-facial dysmorphism syndrome
: code 404443
Tall stature-intellectual disability-renal anomalies syndrome
: code 500095
Tall stature-scoliosis-macrodactylyof the great toes syndrome
: code 329191
Tall stature-scoliosis-macrodactylyof the halluces syndrome
: code 329191
Talo-patello-scaphoid osteolysis
: code 50809
Tangier disease
: code 31150
Tapetochoroidal dystrophy
: code 180
Tappeiner-Pfleger disease
: code 98839
TAR syndrome
: code 3320
Tarlov cyst
: code 65250
TARP syndrome
: code 2886
Tarsal kink syndrome
: code 99170
Tarsal-carpal coalition syndrome
: code 1412
Tarui disease
: code 371
Tatton-Brown-Rahman overgrowthsyndrome
: code 404443
Tattoo dysplasia
: code 163654
Taurodontia-absent teeth-sparsehair syndrome
: code 2731
Taurodontism
: code 3289
Taussig-Bing syndrome
: code 99045
Tay syndrome
: code 33364
Tay-Sachs disease
: code 845
Tay-Sachs disease B1 variant
: code 309239
Tay-Sachs disease B variant adultform
: code 309192
Tay-Sachs disease B variant infantile form
: code 309178
Tay-Sachs disease B variant juvenile form
: code 309185
Taybi syndrome
: code 90650
Taybi-Linder syndrome
: code 2636
TBCD
: code 98960
TBCK-related intellectual disabilitysyndrome
: code 488632
TBE
: code 297
TBM
: code 499004
TBS
: code 857
TCI deficiency
: code 2967
TCP
: code 103918
TCR-alpha-beta+ T-cell deficiency
: code 397959
TCR-alpha-beta-positive T-celldeficiency
: code 397959
TD
: code 2655
TD1
: code 1860
TD2
: code 93274
TDO syndrome
: code 3352
Teebi hypertelorism syndrome
: code 1519
Teebi syndrome
: code 1519
Teebi-Al Saleh-Hassoon syndrome
: code 2432
Teebi-Kaurah syndrome
: code 1094
Teebi-Naguib-Alawadi syndrome
: code 1974
Teebi-Shaltout syndrome
: code 3291
Tel Hashomer camptodactylysyndrome
: code 3292
Telangiectasia macularis eruptivaperstans
: code 90389
Telangiectasia-erythrocytosis-
: code 284227
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
: code 3293
Telfer-Sugar-Jaeger syndrome
: code 2885
TELO2-related intellectualdisability-neurodevelopmental disorder
: code 488642
Telomeric 15q deletion syndrome
: code 1596
Telomeric deletion 1q
: code 36367
Telomeric deletion 4p
: code 280
Telomeric deletion 4q
: code 96145
Telomeric deletion 5q
: code 1627
Telomeric deletion 7p
: code 96126
Telomeric deletion 7q36
: code 1636
Telomeric deletion 9p
: code 1642
Telomeric deletion 10p
: code 1580
Telomeric deletion 10q
: code 96148
Telomeric deletion 11q
: code 2308
Telomeric deletion 12q
: code 96149
Telomeric deletion 14q
: code 96150
Telomeric deletion 17p
: code 531
Telomeric deletion 17q
: code 1597
Telomeric deletion 19p
: code 96129
Telomeric deletion 20q
: code 96152
Telomeric deletion13q
: code 1590
Telomeric duplication 1p36
: code 96069
Telomeric duplication 2p
: code 96070
Telomeric duplication 2q
: code 96094
Telomeric duplication 3p
: code 96071
Telomeric duplication 4p
: code 96072
Telomeric duplication 4q
: code 96096
Telomeric duplication 5q
: code 96097
Telomeric duplication 6p
: code 1745
Telomeric duplication 6q
: code 96098
Telomeric duplication 7p
: code 96074
Telomeric duplication 8q
: code 96100
Telomeric duplication 9q
: code 96101
Telomeric duplication 10q
: code 96102
Telomeric duplication 11q
: code 96103
Telomeric duplication 13q
: code 96105
Telomeric duplication 14q
: code 1705
Telomeric duplication 15q
: code 1707
Telomeric duplication 16p
: code 96078
Telomeric duplication 16q
: code 96106
Telomeric duplication 17q
: code 3379
Telomeric duplication 18q
: code 1716
Telomeric duplication 19q
: code 1717
Telomeric duplication 20q
: code 96107
Telomeric duplication 22q
: code 96109
Telomeric duplication Xq
: code 1762
Telomeric monosomy 3p
: code 1620
TEMF
: code 75565
Temperature-sensitiveoculocutaneous albinism type 1
: code 352737
TEMPI syndrome
: code 284227
Temple syndrome
: code 96184
Temple-Baraitser syndrome
: code 420561
Temporal arteritis
: code 397
Temtamy preaxial brachydactylysyndrome
: code 363417
Temtamy syndrome
: code 1777
Temtamy-Shalash syndrome
: code 1777
Tenosynovial giant cell tumor
: code 66627
Ter Haar syndrome
: code 137834
Teratoma of the central nervoussystem
: code 252018
Teratoma of the nasopharynx
: code 141107
Teratoma of the testis
: code 363483
Terminal complement pathwaydeficiency
: code 169150
Terminal osseous dysplasia-pigmentary defects syndrome
: code 88630
Tessier number 1 cleft
: code 141242
Tessier number 4 facial cleft
: code 141258
Tessier number 5 facial cleft
: code 141261
Tessier number 6 facial cleft
: code 141265
Testicular agenesis
: code 325124
Testicular non seminomatous germcell tumor
: code 363494
Testicular non-dysgerminomatousgerm cell tumor
: code 363494
Testicular regression syndrome
: code 983
Testicular seminoma
: code 842
Testicular seminomatous germ celltumor
: code 842
Testicular sex cord-stromal tumor
: code 363489
Testicular teratoma
: code 363483
Testotoxicosis
: code 3000
Tetanus
: code 3299
Tetra X
: code 9
Tetra-amelia
: code 294971
Tetraamelia-multiplemalformations syndrome
: code 3301
Tetragametic chimerism
: code 199310
Tetrahydrobiopterin-responsiveHPA/PKU
: code 293284
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
: code 293284
Tetralogy of Fallot
: code 3303
Tetramelic monodactyly
: code 2564
Tetraploidy
: code 3305
Tetrasomy 5p
: code 3309
Tetrasomy 9p
: code 3310
Tetrasomy 11q24.1
: code 289522
Tetrasomy 12p
: code 884
Tetrasomy 15(q25-qter)
: code 314588
Tetrasomy 15q26
: code 314588
Tetrasomy 16p12.1-p12.3
: code 485405
Tetrasomy 16p12.1p12.3
: code 485405
Tetrasomy 18p
: code 3307
Tetrasomy 21
: code 96055
Tetrasomy X
: code 9
Teunissen-Cremers syndrome
: code 140917
TFP deficiency
: code 746
TFPD
: code 746
TFR2-related hemochromatosis
: code 225123
TFRC-related combinedimmunodeficiency
: code 476113
TGA with cardiac malformation
: code 216729
TGA with coarctation
: code 99042
TGCT
: code 66627
TH-SHFM
: code 3329
Thakker-Donnai syndrome
: code 1780
Thalidomide embryopathy
: code 3312
Thanatophoric dwarfism
: code 2655
Thanatophoric dwarfism type 1
: code 1860
Thanatophoric dwarfism type 2
: code 93274
Thanatophoric dwarfism-cloverleafskull syndrome
: code 93274
Thanatophoric dysplasia
: code 2655
Thanatophoric dysplasia type 1
: code 1860
Thanatophoric dysplasia type 2
: code 93274
Thanatophoric dysplasia Glasgowvariant
: code 175
Thauvin-Robinet-Faivre syndrome
: code 500095
THBD-related bleeding disorder
: code 436169
THBD-related coagulopathy
: code 436169
Theca (steroid-producing) cellcancer not further specified
: code 99917
Theca steroid-producing cell malignant tumor of ovary notfurther specified
: code 99917
Theodore’s superior limbickeratoconjunctivitis
: code 88633
Theodore’s syndrome
: code 88633
Thiamine-responsive BCKDdeficiency
: code 268184
Thiamine-responsive branched- chain alpha-ketoaciddehydrogenase deficiency
: code 268184
Thiamine-responsiveencephalopathy
: code 199348
Thiamine-responsive maple syrupurine disease
: code 268184
Thiamine-responsive megaloblasticanemia syndrome
: code 49827
Thiamine-responsive megaloblasticanemia with diabetes mellitus and sensorineural deafness
: code 49827
Thiamine-responsive MSUD
: code 268184
Thickened earlobes-conductive
: code 2405
Thiel-Behnke corneal dystrophy
: code 98960
Thiemann disease familial form
: code 3314
Thies-Reis syndrome
: code 3235
Thin ribs-tubular bones-dysmorphism syndrome
: code 1506
Thinking seizures
: code 166424
Thiolase deficiency
: code 300
Third branchial cleft anomaly
: code 141030
Third branchial cleft cyst
: code 141030
Third branchial cleft fistula
: code 141030
THOC6-related developmental delay-microcephaly-facialdysmorphism syndrome
: code 363444
Thomas syndrome
: code 3316
Thomas-Jewett-Raines syndrome
: code 2547
Thompson-Baraitser syndrome
: code 2031
Thomsen and Becker disease
: code 614
Thong-Douglas-Ferrante syndrome
: code 2866
Thoracic dysplasia-hydrocephalussyndrome
: code 1861
Thoracic outlet compressionsyndrome
: code 97330
Thoracic outlet syndrome
: code 97330
Thoraco-abdominal entericduplication
: code 1759
Thoraco-abdominal syndrome
: code 1335
Thoracolaryngopelvic dysplasia
: code 3317
Thoracolimb dysplasia Rivera type
: code 1803
Thoracolumbosacral spina bifidaaperta
: code 268384
Thoracolumbosacral spina bifidacystica
: code 268752
Thoracomelic dysplasia
: code 1803
Thost-Unna palmoplantarkeratoderma
Thromboangiitis obliterans
: code 36258
Thrombocythemia with distal limbdefects
: code 329319
Thrombocytopathy-asplenia-miosissyndrome
: code 3204
Thrombocytopenia with congenitaldyserythropoietic anemia
: code 67044
Thrombocytopenia-absent radiussyndrome
: code 3320
Thrombocytopenia-anasarca-fever- renal insufficiency-organomegalysyndrome
: code 457077
Thrombocytopenia-Robin sequencesyndrome
: code 3323
Thrombocytopenic purpura autoimmune
: code 3002
Thrombomodulin-related bleedingdisorder
: code 436169
Thrombomodulin-relatedcoagulopathy
: code 436169
Thrombotic thrombocytopenicpurpura
: code 54057
Thumb deformity-alopecia-pigmentation anomaly syndrome
: code 2251
Thumb hypodactyly
: code 294988
Thumb oligodactyly
: code 294988
Thumb stiffness-brachydactyly-intellectual disability syndrome
: code 1078
Thurston syndrome
: code 2919
Thymic aplasia
: code 83471
Thymic neuroendocrine carcinoma
: code 99869
Thymic neuroendocrine tumor
: code 97289
Thymic-renal-anal-lung dysplasia
: code 3326
Thymoma
: code 99867
Thymoma type A
: code 263310
Thymoma type AB
: code 263324
Thymoma type B
: code 263317
Thymoma-immunodeficiencysyndrome
: code 169105
Thyrocerebrorenal syndrome
: code 3327
Thyroid dyshormonogenesis
: code 95716
Thyroid ectopia
: code 95712
Thyroid hemiagenesis
: code 95719
Thyroid hypoplasia
: code 95720
Thyroid lymphoma
: code 97285
Thyroid stimulating hormone-secreting pituitary adenoma
: code 91347
Thyroid-renal-digital anomalies
: code 2091
Thyrotoxic hypokalemic periodicparalysis
: code 79102
Thyrotoxic periodic paralysis
: code 79102
Thyrotroph adenoma
: code 91347
Tibia vara Blount
: code 2768
Tibial aplasia-ectrodactylysyndrome
: code 3329
Tibial hemimelia
: code 93322
Tibial hemimelia with splithand/foot malformation
: code 3329
Tibial hemimelia-ectrodactylysyndrome
: code 3329
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
: code 988
Tibial longitudinal meromelia
: code 93322
Tibial muscular dystrophy
: code 609
Tibio-fibular fusion
: code 295028
Tibio-fibular synostosis
: code 295028
Tibiofibular terminal transversemeromelia
: code 294981
Tick-borne encephalitis
: code 297
Tietz syndrome
: code 42665
Tight skin contracture syndrome
: code 1662
Timothy syndrome
: code 65283
TINU syndrome
: code 91500
TIO
: code 352540
TJP2 deficit
: code 480483
TKT deficiency
: code 488618
TMBTS
: code 420561
TMCO1 defect syndrome
: code 1394
TMD
: code 420611
TMD
: code 609
TMEM165-CDG
: code 314667
TMEM199-CDG
: code 466703
TMEM70-related mitochondrialencephalo-cardio-myopathy
: code 1194
TNDM
: code 99886
TNF receptor 1-associated periodicsyndrome
: code 32960
Tolosa-Hunt syndrome
: code 64686
Toluene embryopathy
: code 1920
Tomaculous neuropathy
: code 640
Tom-Brunet-Fardeau syndrome
: code 314632
Tonic pupil-tendon areflexiasyndrome
: code 454718
Tonoki-Ohura-Niikawa syndrome
: code 1547
Tooth and nail syndrome
: code 2228
Torg-Winchester syndrome
: code 3460
Toriello syndrome
: code 1827
Toriello-Carey syndrome
: code 3338
Toriello-Higgins-Miller syndrome
: code 79347
Toriello-Lacassie-Droste syndrome
: code 3339
Torsade-de-pointes syndrome withshort coupling interval
: code 51084
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
: code 3341
Tortuosity of retinal arteries
: code 75326
TOS
: code 97330
Tosti syndrome
: code 2701
Total amelia
: code 294971
Total color blindness
: code 49382
Total early-onset cataract
: code 98994
Total septate uterus
: code 180126
Total spina bifida aperta
: code 268377
Total spina bifida cystica
: code 268748
Touraine-Solente-Gole syndrome
: code 2796
Townes syndrome
: code 857
Townes-Brocks syndrome
: code 857
Toxic epidermal necrolysis
: code 537
Toxic epidermolysis
: code 95455
Toxic maculopathy due toantimalarial drugs
: code 279894
Toxic oil syndrome
: code 227972
Toxic pustuloderma
: code 293173
Toxin-mediated infectious botulism
: code 230800
Toxin-mediated infective botulism
: code 230800
Toxocariasis
: code 3343
Toxoplasma embryofetopathy
: code 858
Toxoplasma embryopathy
: code 858
TPHA
: code 93164
TPPII deficiency
: code 444463
TPPII-related immunodeficiency autoimmunity and neurodevelopmental delay with impaired glycolysis and lysosomalexpansion disease
: code 444463
TPT-PS syndrome
: code 2950
Traboulsi syndrome
: code 412022
Tracheal agenesis
: code 3346
Tracheobronchomegaly
: code 3347
Tracheobronchopathiaosteochondroplastica
: code 3348
Tracheopathia osteoplastica
: code 3348
Tranebjaerg-Svejgaard syndrome
: code 3052
Transaldolase deficiency
: code 101028
Transcobalamin deficiency
: code 859
Transcobalamin I deficiency
: code 2967
Transcobalamin II deficiency
: code 859
Transcobalamin-1 deficiency
: code 2967
Transcortin deficiency
: code 199247
Transgrediens et progredienspalmoplantar keratoderma
: code 495
Transgrediens et progrediens PPK
: code 495
Transgrediens palmoplantarkeratoderma of Siemens
: code 87503
Transient abnormal myelopoiesis
: code 420611
Transient acquired pure red cellaplasia
: code 98871
Transient bullous dermolysis of thenewborn
: code 79411
Transient erythroblastopenia ofchildhood
: code 98871
Transient familial neonatalhyperbilirubinemia
: code 2312
Transient hyperammonemia of thenewborn
: code 289877
Transient hypogammaglobulinemiaof infancy
: code 169139
Transient infantilehypertriglyceridemia and fatty liver
: code 300293
Transient infantile hypertriglyceridemia andhepatosteatosis
: code 300293
Transient left ventricular apicalballooning syndrome
: code 66529
Transient myeloproliferativedisease
: code 420611
Transient myeloproliferativesyndrome
: code 420611
Transient neonatal acquiredmyasthenia
: code 391504
Transient neonatal autoimmunemyasthenia gravis
: code 391504
Transient neonatal cyanosis and anemia due to Toms RiverHemoglobin
: code 280615
Transient neonatal diabetesmellitus
: code 99886
Transient neonatal glutaricacidemia type 2
: code 329942
Transient neonatal glutaric aciduriatype 2
: code 329942
Transient neonatal MAD deficiency
: code 329942
Transient neonatal MADD
: code 329942
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
: code 329942
Transient neonatal myastheniagravis
: code 391504
Transientpseudohypoaldosteronism
: code 93164
Transient reactivepapulotranslucent acrokeratoderma
: code 498359
Transient tyrosinemia of theneonate
: code 3402
Transient tyrosinemia of thenewborn
: code 3402
Transitional cell carcinoma of thecorpus uteri
: code 213746
Transitional PMD
: code 280224
Transketolase deficiency
: code 488618
Translocation renal cell carcinoma
: code 319308
Transthyretin amyloid cardiopathy
: code 85451
Transthyretin amyloid neuropathy
: code 85447
Transthyretin amyloidpolyneuropathy
: code 85447
Transthyretin-related familialamyloid cardiomyopathy
: code 85451
Transverse limb deficiency-hemangioma syndrome
: code 221061
Transverse vaginal septum
: code 180160
TRAPS syndrome
: code 32960
Traumatic avascular necrosis
: code 399175
Traumatic AVN
: code 399175
Traumatic myiasis
: code 165955
Treacher-Collins syndrome
: code 861
Treft-Sanborn-Carey syndrome
: code 1215
Trehalase deficiency
: code 103909
Tremor-ataxia-centralhypomyelination syndrome
: code 447896
Tremor-nystagmus-duodenal ulcersyndrome
: code 3350
Trench fever
: code 64694
Trevor disease
: code 1822
TRH resistance syndrome
: code 99832
Triad syndrome
: code 2970
TRIANGLE disease
: code 444463
Triangular tibia-fibular aplasiasyndrome
: code 85170
Trichinellosis
: code 863
Trichinosis
: code 863
Tricho-dento-osseous syndrome
: code 3352
Tricho-hepato-enteric syndrome
: code 84064
Tricho-retino-dento-digitalsyndrome
: code 1264
Trichodental syndrome
: code 3351
Trichodermal syndrome-intellectualdisability syndrome
: code 3360
Trichodermodysplasia-dentalalterations syndrome
: code 3353
Trichodysplasia spinulosa
: code 228379
Trichodysplasia-abnormal dermatoglyphics-intellectualdisability syndrome
: code 1809
Trichodysplasia-amelogenesisimperfecta syndrome
: code 79129
Trichodysplasia-xerodermasyndrome
: code 3361
Trichofolliculoma
: code 864
Trichohepatoenteric syndrome
: code 84064
Trichomatrical carcinoma
: code 499182
Trichomegaly-retina pigmentarydegeneration-dwarfism syndrome
: code 3363
Trichoodontoonychial dysplasia
: code 3355
Trichoodontoonychial dysplasia with bone deficiency infrontoparietal region
: code 3355
Trichopoliodystrophy
: code 565
Trichorhinophalangeal syndrometype 1 and 3
: code 77258
Trichorhinophalangeal syndrometype 2
: code 502
Trichorrhexis nodosa syndrome
: code 33364
Trichothiodystrophy
: code 33364
Trichothiodystrophy type B
: code 33364
Trichothiodystrophy type C
: code 33364
Trichothiodystrophy type D
: code 33364
Trichothiodystrophy type E
: code 33364
Trichothiodystrophy type F
: code 33364
Trichothiodystrophy type G
: code 33364
Trichothiodystrophy withcongenital ichthyosis
: code 33364
Trichothiodystrophy-neurocutaneous syndrome syndrome
: code 33364
Trichothiodystrophy-osteosclerosissyndrome
: code 33364
Trichothiodystrophy-sun sensitivitysyndrome
: code 33364
Tricuspid atresia
: code 1209
Tricuspid valve agenesis
: code 95457
Tricuspid valve prolapse
: code 95458
Trigeminal neuralgia
: code 221091
Triglyceride deposit
: code 98908
Trigonocephaly C syndrome
: code 1308
Trigonocephaly-bifid nose-acralanomalies syndrome
: code 3368
Trigonocephaly-broad thumbssyndrome
: code 3365
Trigonocephaly-short stature-developmental delay syndrome
: code 3369
Trilineage bone marrow failure-developmental delay syndrome
: code 401764
Triopia
: code 3374
Triose phosphate-isomerasedeficiency
: code 868
Trip(16)(p12.1p12.3)
: code 485405
Tripeptidyl-peptidase II deficiency
: code 444463
Triphalangeal thumb-polysyndactyly syndrome
: code 2950
Triphalangeal thumbs-brachyectrodactyly syndrome
: code 2947
Triphalangeal thumbs-dislocation ofpatella syndrome
: code 3133
Triple A syndrome
: code 869
Triple H syndrome
: code 415
Triple X syndrome
: code 3375
Triplo-X syndrome
: code 3375
Triploidy
: code 3376
Trismus-pseudocamptodactylysyndrome
: code 3377
Trisomy 1 mosaicism
: code 1692
Trisomy 1pter
: code 96069
Trisomy 1q
: code 261344
Trisomy 1q21.1
: code 250994
Trisomy 2 mosaicism
: code 1723
Trisomy 2pter
: code 96070
Trisomy 2q23.1
: code 313947
Trisomy 2q31.1
: code 294026
Trisomy 2qter
: code 96094
Trisomy 3 mosaicism
: code 100071
Trisomy 3pter
: code 96071
Trisomy 3q26
: code 96095
Trisomy 3q29
: code 251038
Trisomy 4 mosaicism
: code 96059
Trisomy 4p
: code 1738
Trisomy 4pter
: code 96072
Trisomy 4qter
: code 96096
Trisomy 5 mosaicism
: code 96060
Trisomy 5p
: code 1742
Trisomy 5p13
: code 329802
Trisomy 5q35
: code 228415
Trisomy 5qter
: code 96097
Trisomy 6pter
: code 1745
Trisomy 6qter
: code 96098
Trisomy 7 mosaicism
: code 1747
Trisomy 7p22.1
: code 314034
Trisomy 7pter
: code 96074
Trisomy 7q11.23
: code 96121
Trisomy 8 mosaicism
: code 96061
Trisomy 8p
: code 264450
Trisomy 8p23.1
: code 251076
Trisomy 8q
: code 1752
Trisomy 8q12
: code 228399
Trisomy 8qter
: code 96100
Trisomy 9 mosaicism
: code 99776
Trisomy 9p
: code 236
Trisomy 9qter
: code 96101
Trisomy 10 mosaicism
: code 96063
Trisomy 10p
: code 171929
Trisomy 10q22.3q23.3
: code 276422
Trisomy 10qter
: code 96102
Trisomy 11p15.4
: code 300305
Trisomy 11qter
: code 96103
Trisomy 12 mosaicism
: code 1698
Trisomy 12p
: code 1699
Trisomy 13
: code 3378
Trisomy 13qter
: code 96105
Trisomy 14 mosaicism
: code 1703
Trisomy 14q11.2
: code 261229
Trisomy 14q32
: code 488280
Trisomy 14qter
: code 1705
Trisomy 15 mosaicism
: code 1706
Trisomy 15q11-q13
: code 238446
Trisomy 15q11q13
: code 238446
Trisomy 15qter
: code 1707
Trisomy 16 mosaicism
: code 1708
Trisomy 16p11.2p12.2
: code 261204
Trisomy 16p13.11
: code 261243
Trisomy 16pter
: code 96078
Trisomy 16qter
: code 96106
Trisomy 17 mosaicism
: code 1711
Trisomy 17p
: code 261290
Trisomy 17p11.2
: code 1713
Trisomy 17p11.2-p12
: code 477817
Trisomy 17p11.2p12
: code 477817
Trisomy 17p13.3
: code 217385
Trisomy 17q11.2
: code 139474
Trisomy 17q12
: code 261272
Trisomy 17q21.31
: code 217340
Trisomy 17qter
: code 3379
Trisomy 18
: code 3380
Trisomy 18p
: code 1715
Trisomy 18qter
: code 1716
Trisomy 19qter
: code 1717
Trisomy 20 mosaicism
: code 1724
Trisomy 20p
: code 261318
Trisomy 20qter
: code 96107
Trisomy 21
: code 870
Trisomy 22 mosaicism
: code 96068
Trisomy 22q11.2
: code 1727
Trisomy 22qter
: code 96109
Trisomy of the short arm ofchromosome 4
: code 1738
Trisomy of the short arm ofchromosome 5
: code 1742
Trisomy of the short arm ofchromosome 9
: code 236
Trisomy of the short arm ofchromosome 18
: code 1715
Trisomy X
: code 3375
Trisomy Xp11.22-p11.23
: code 217377
Trisomy Xq27.3-q28
: code 261483
Trisomy Xq27.3q28
: code 261483
Trisomy Xq28
: code 1762
Tritan colour blindness
: code 88629
Tritanopia
: code 88629
TRMA
: code 49827
tRNA-LYS-related cardiomyopathy-hearing loss syndrome
: code 1349
Tropical calcific chronic pancreatitis
: code 103918
Tropical endomyocardial fibrosis
: code 75565
Tropical pancreatic diabetes
: code 99654
Tropical pancreatitis
: code 103918
Tropical pyomyositis
: code 764
Tropical spastic paraparesis
: code 289326
Troyer syndrome
: code 101000
TRS
: code 983
True congenital pancreatic cyst
: code 313906
True hermaphroditism
: code 2138
True microcephaly
: code 2512
True unicornuate uterus
: code 180074
Trueb-Burg-Bottani syndrome
: code 3357
Truncus arteriosus
: code 3384
TS
: code 228379
TS OCA type 1
: code 352737
Tsao-Ellingson syndrome
: code 3173
TSGCT
: code 66627
TSH-oma
: code 91347
TSH-secreting pituitary adenoma
: code 91347
TSP
: code 289326
Tsukahara syndrome
: code 3268
Tsukahara-Kajii syndrome
: code 3387
Tsutsugamushi disease
: code 83317
Tsutsugamushi fever
: code 83317
TTP
: code 54057
TTR amyloid neuropathy
: code 85447
TTR-related amyloidcardiomyopathy
: code 85451
TTR-related cardiac amyloidosis
: code 85451
Tubal cancer
: code 180242
Tubercular meningitis
: code 499004
Tuberculosis
: code 3389
Tuberculous meningitis
: code 499004
Tuberous sclerosis
: code 805
Tuberous sclerosis complex
: code 805
Tuberous sclerosis/polycystic kidney disease contiguous genesyndrome
: code 88924
Tubular aggregate myopathy
: code 2593
Tubular duplication of theesophagus
: code 100048
Tubular renal disease-cardiomyopathy syndrome
: code 73224
Tubulinopathy-associated dysgyria
: code 467166
Tubulocystic renal cell carcinoma
: code 319325
Tubulointerstitial nephritis anduveitis syndrome
: code 91500
Tucker syndrome
: code 2997
Tuffli-Laxova syndrome
: code 2036
Tufted angioma
: code 1063
Tularemia
: code 3392
Tulip-bulb digger’s palsy
: code 640
Tumor necrosis factor receptor 1associated periodic syndrome
: code 32960
Tumor susceptibility linked togermline BAP1 mutations
: code 289539
Tumor-induced osteomalacia
: code 352540
Tungiasis
: code 879
Tungland-Bellman syndrome
: code 3225
Tunnel subaortic stenosis
: code 99053
Turban tumor syndrome
: code 211
Turcot syndrome with polyposis
: code 99818
Turner syndrome
: code 881
Turner syndrome due to structuralX chromosome anomalies
: code 99413
Turner-Kieser syndrome
: code 2614
Turricephaly
: code 63440
Twin to twin transfusion syndrome
: code 95431
Twisted atrioventricularconnections
: code 1461
Twisted hair
: code 2889
Tylosis-oesophageal carcinomasyndrome
: code 2198
Type 1 condylar hyperplasia
: code 477781
Type 1 syndactyly-microcephaly-intellectual disability syndrome
: code 3255
Type 1C glycogenosis
: code 79259
Type 1D glycogenosis
: code 79259
Type II mixed cryoglobulinemia
: code 93554
Typhoid
: code 99745
Typhoid fever
: code 99745
Typhoidal salmonellosis
: code 99745
Typical hemolytic-uremic syndrome
: code 90038
Typical HUS
: code 90038
Typical nemaline myopathy
: code 171436
Typical urticaria pigmentosa
: code 158766
Typus Edinburgensis
: code 1895
Tyrosinase-negativeoculocutaneous albinism
: code 79431
Tyrosine hydroxylase deficiency
: code 101150
Tyrosine hydroxylase-deficientdopa-responsive dystonia
: code 101150
Tyrosinemia due to 4- hydroxyphenylpyruvatedioxygenase deficiency
: code 69723
Tyrosinemia due to 4- hydroxyphenylpyruvic acid oxidasedeficiency
: code 69723
Tyrosinemia due to HPD deficiency
: code 69723
Tyrosinemia due to TAT deficiency
: code 28378
Tyrosinemia due to tyrosineaminotransferase deficiency
: code 28378
Tyrosinemia type 1
: code 882
Tyrosinemia type 2
: code 28378
Tyrosinemia type 3
: code 69723
Tyrosinemia type I
: code 882
Tyrosinemia type II
: code 28378
Tyrosinemia type III
: code 69723
UCMD
: code 75840
UCTD
: code 90002
Udd myopathy
: code 609
UDP-galactose-4-epimerasedeficiency
: code 79238
UES
: code 178315
UGT deficiency
: code 205
UGT deficiency type 1
: code 79234
UGT deficiency type 2
: code 79235
Uhl anomaly
: code 3403
UIP
: code 2032
Ulbright-Hodes syndrome
: code 3404
ULD
: code 308
Ulerythema ophryogenesis
: code 3406
Ulick syndrome
: code 320
Ullrich disease
: code 75840
Ulna hypoplasia
: code 2497
Ulna hypoplasia-intellectualdisability syndrome
: code 2249
Ulna metaphyseal dysplasiasyndrome
: code 1837
Ulnar clubhand
: code 93320
Ulnar hemimelia
: code 93320
Ulnar hypoplasia-lobster-clawdeformity of feet syndrome
: code 1122
Ulnar hypoplasia-split footsyndrome
: code 1122
Ulnar longitudinal meromelia
: code 93320
Ulnar-mammary syndrome
: code 3138
Ulnar/fibula ray defect-brachydactyly syndrome
: code 52056
Umbilical cord ulceration-intestinalatresia syndrome
: code 3405
UMOD-associated familial juvenile
: code 209886
UMOD-associated FJHN
: code 209886
UMOD-related ADTKD
: code 88950
UMOD-related autosomal dominant tubulointerstitial kidneydisease
: code 88950
UMPH1 deficiency
: code 35120
UMS
: code 3138
Unclassified intestinalpseudoobstruction
: code 104078
Unclassified mixed myelodysplastic/myeloproliferaticsyndrome
: code 98825
Unclassified myelodysplasticsyndrome
: code 98827
Unclassifiedmyelodysplastic/myeloproliferative disease
: code 98825
Unclassified vasculitis
: code 251328
Uncombable hair syndrome
: code 1410
Uncombable hair-retinal pigmentary dystrophy-dentalanomalies-brachydactyly syndrome
: code 1264
Undetermined colitis
: code 103920
Undetermined early-onset epilepticencephalopathy
: code 442835
Undetermined EOEE
: code 442835
Undifferentiated carcinoma ofesophagus
: code 418951
Undifferentiated carcinoma of liverand IBT
: code 424970
Undifferentiated carcinoma of liverand intrahepatic biliary tract
: code 424970
Undifferentiated carcinoma of pancreas with osteoclast-like giantcells
: code 424080
Undifferentiated carcinoma ofstomach
: code 423786
Undifferentiated carcinoma of thecorpus uteri
: code 213721
Undifferentiated connective tissuesyndrome
: code 90002
Undifferentiated embryonalsarcoma of the liver
: code 178315
Undifferentiated esophagealcarcinoma
: code 418951
Undifferentiated gastric carcinoma
: code 423786
Undifferentiated myeloproliferativedisease
: code 86830
Undifferentiated pleomorphicsarcoma
: code 2023
Undifferentiated sarcoma of theliver
: code 178315
Unexplained long-lastingfever/inflammatory syndrome
: code 251332
Unicameral bone cyst
: code 83468
Unicornuate uterus withrudimentary horn
: code 180079
Unicornuate uterus withoutrudimentary horn
: code 180074
Unilateral congenital megacalycosis
: code 93176
Unilateral focal polymicrogyria
: code 268947
Unilateral hemisphericpolymicrogyria
: code 101071
Unilateral MCDK
: code 97363
Unilateral megalencephaly
: code 99802
Unilateral multicystic dysplastickidney
: code 97363
Unilateral multicystic renaldysplasia
: code 97363
Unilateral polymicrogyria
: code 268943
Unilateral syndactyly of digits 2-5
: code 295012
Univentricular heart
: code 1464
Univentricular heart with singleatrio-ventricular valve
: code 99069
Universal melanosis
: code 79146
Universal mesentery
: code 620
Unroofed coronary sinus
: code 99104
Unspecified JIA
: code 91140
Unspecified juvenile idiopathicarthritis
: code 91140
Unstable hemoglobin disease
: code 99139
Unverricht-Lundborg disease
: code 308
UPD(1)mat
: code 251009
UPD(1)pat
: code 251004
UPD(2)mat
: code 96179
UPD(4)mat
: code 96180
UPD(5)pat
: code 96190
UPD(6)mat
: code 96181
UPD(6)pat
: code 96191
UPD(7)mat
: code 96182
UPD(7)pat
: code 96192
UPD(9)mat
: code 96183
UPD(11)mat
: code 231147
UPD(11)pat
: code 96193
UPD(13)mat
: code 97678
UPD(13)pat
: code 99324
UPD(14)mat
: code 96184
UPD(14)pat
: code 96334
UPD(15)mat
: code 98754
UPD(15)pat
: code 98795
UPD(16)mat
: code 96185
UPD(20)mat
: code 96186
UPD(20)pat
: code 96194
UPD(21)mat
: code 96187
UPD(21)pat
: code 96195
UPD(22)mat
: code 96188
UPD(X)mat
: code 261519
UPD(X)pat
: code 261524
Upington disease
: code 3408
Upper limb defect-eye and earabnormalities syndrome
: code 2489
Upper limb hypertrophy
: code 295049
Upper limb mesomelic dysplasia
: code 2497
Upper thoracic spina bifida aperta
: code 268740
Upper thoracic spina bifida cystica
: code 268770
UPS
: code 2023
Upshaw-Schulman syndrome
: code 93583
Urachal cyst
: code 488
Urachal diverticulum
: code 431347
Urachal sinus
: code 431344
Urbach-Wiethe disease
: code 530
Urban-Rifkin-Davis syndrome
: code 221145
Urban-Rogers-Meyer syndrome
: code 3409
Urban-Schosser-Spohn syndrome
: code 1839
Uremic pruritus
Urethral atresia
: code 105
Uridine 5′-monophosphatehydrolase deficiency
: code 35120
Uridine diphosphate galactose-4-epimerase deficiency
: code 79238
Uridine monophosphate synthetasedeficiency
: code 30
Urocanic aciduria
: code 210128
Urofacial syndrome
: code 2704
Urrets-Zavalia syndrome
: code 98606
Urticaria pigmentosa
: code 79457
USH
: code 886
USH1
: code 231169
USH2
: code 231178
USH3
: code 231183
Usher syndrome
: code 886
Usher syndrome type 1
: code 231169
Usher syndrome type 2
: code 231178
Usher syndrome type 3
: code 231183
USP18 deficiency
: code 481665
Usual interstitial pneumonia
: code 2032
Uterine carcinosarcoma
: code 213610
Uterine cervical aplasia andagenesis
: code 180145
Uterine hypoplasia
: code 180139
Uteroplacental vascularinsufficiency
: code 439167
Uterus arcuatus
: code 180118
Uterus cordiformis
: code 180118
Uterus subseptus
: code 180129
UV-sensitive syndrome
: code 178338
Uveal coloboma-cleft lip andpalate-intellectual disability
: code 1473
Uveal melanoma
: code 39044
: code 99771
v-AT
: code 370109
VACTERL association
: code 887
VACTERL with hydrocephalus
: code 3412
VACTERL/VATER association
: code 887
Vacuolar myopathy
: code 25980
Vacuolating megalencephalic leukoencephalopathy withsubcortical cysts
: code 2478
Vaginal atresia
: code 65681
Vaginal carcinoma
: code 180247: code 206489
Vaginal germ cell malignant tumor
: code 206489
Vaginal malignant epithelial tumor
: code 180247
VAHS
: code 158048
Valine metabolic defect
: code 88639
Valley fever
: code 228123
Valvular pulmonary stenosis
: code 99054
Van Benthem-Driessen-Hanveldsyndrome
: code 1548
Van Bogaert disease
: code 2806
Van Bogaert encephalitis
: code 2806
Van Buchem disease
: code 3416
Van den Berghe-Dequeckersyndrome
: code 1122
Van den Bosch syndrome
: code 3417
Van den Ende-Gupta syndrome
: code 2460
Van der Hoeve syndrome
: code 216796
Van der Knaap syndrome
: code 2478
Van der Woude syndrome
: code 888
Van Maldergem syndrome
: code 314679
Van Regemorter-Pierquin-Vamossyndrome
: code 3419
Vanishing bone disease
: code 73
Vanishing testes syndrome
: code 983
Vanishing testis syndrome
: code 983
Vaquez disease
: code 729
Vradi syndrome
: code 2754
Vradi-Papp syndrome
: code 2754
Variably protease-sensitiveprionopathy
: code 454742
Variant ABeta2M amyloidosis
: code 314652
Variant phenylketonuria
: code 79253
Variant PKU
: code 79253
Variegate porphyria
: code 79473
Vasculitis due to ADA2 deficiency
: code 404553
Vasculitis due to DADA2
: code 404553
Vasoproliferative tumor of theocular fundus
: code 353356
Vasoproliferative tumor of theretina
: code 353356
Vasquez-Hurst-Sotos syndrome
: code 261483
Vsterbotten dystrophy
: code 85128
VATER association
: code 887
Vater-like syndrome with pulmonary hypertension abnormalears and growth deficiency
: code 52047
VATS
: code 228379
VCAN-related vitreoretinopathy
: code 898
VCPDM
: code 600
VDDI
: code 289157
VDDR II
: code 93160
VDDR-I
: code 289157
VDEGS
: code 2460
VDRR II
: code 93160
Vein of Galen aneurysm
: code 1053
Vein of Galen arteriovenousmalformations
: code 1053
Velo-facial-skeletal syndrome
: code 3424
Velocardiofacial syndrome
: code 567
Venereal arthritis
: code 29207
Venezuelan hemorrhagic fever
: code 319234
Venous cervical rib syndrome
: code 357131
Venous costoclavicular syndrome
: code 357131
Venous hyperabduction syndrome
: code 357131
Venous malformations with glomuscells
: code 83454
Venous scalenus anticus syndrome
: code 357131
Venous thoracic outlet compressionsyndrome
: code 357131
Venous thoracic outlet syndrome
: code 357131
Venous TOS
: code 357131
Ventilator-induced diaphragmaticdysfunction
: code 505395
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
: code 3201
Ventricular inversion
: code 216694
Ventricular septal defect with aorticinsufficiency
: code 99094
Ventriculoarterial andatrioventricular discordance
: code 216694
Ventriculoarterial discordance withatrioventricular concordance
: code 860
Ventriculomegaly-cystic kidneydisease
: code 443988
Verheij syndrome
: code 508488
Verloes-Bourguignon syndrome
: code 2899
Verloes-David syndrome
: code 2496
Verloes-Deprez syndrome
: code 50817
Verloes-Gillerot-Fryns syndrome
: code 2983
Verloes-Van Maldergem-deMarneffe syndrome
: code 2551
Verloove Vanhorick-Brubakksyndrome
: code 3429
Vernal keratoconjunctivitis
: code 70476
Verner-Morrison syndrome
: code 97282
Verrucous hemangioma
: code 464318
Verrucous nevus
: code 79467
Very long chain acyl-CoAdehydrogenase deficiency
: code 26793
Vesicourachal diverticulum
: code 431347
Vestibular schwannoma
: code 252175
VHL
: code 892
Vibratory angioedema
: code 493348
Vibratory urticaria
: code 493342
Vici syndrome
: code 1493
VIDD
: code 505395
Viljoen-Kallis-Voges syndrome
: code 3433
Viljoen-Smart syndrome
: code 3434
VIP-secreting tumor
: code 97282
VIPoma
: code 97282
Viral myositis
: code 206991
Virginal breast hypertrophy
: code 180176
Virilizing ovarian tumor
: code 99916
Virus-associated hemophagocyticsyndrome
: code 158048
Virus-associated trichodysplasiaspinulosa
: code 228379
Visceral calciphylaxis
: code 280068
Visceral myopathy-familial externalophthalmoplegia syndrome
: code 1876
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
: code 73246
Visible and exudative idiopathicjuxtafoveolar retinal telangiectasis
: code 353344
Visual snow syndrome
: code 420556
Vitamin B6-dependent seizures
: code 3006
Vitamin B12-responsivemethylmalonic acidemia
: code 28
Vitamin B12-responsivemethylmalonic acidemia type cblA
: code 79310
Vitamin B12-responsivemethylmalonic acidemia type cblB
: code 79311
Vitamin B12-responsive methylmalonic acidemia typecblDv2
: code 308442
Vitamin B12-responsivemethylmalonic aciduria
: code 28
Vitamin B12-responsivemethylmalonic aciduria type cblA
: code 79310
Vitamin B12-responsivemethylmalonic aciduria type cblB
: code 79311
Vitamin B12-responsivemethylmalonic aciduria type cblDv2
: code 308442
Vitamin B12-unresponsivemethylmalonic acidemia
: code 27
Vitamin B12-unresponsivemethylmalonic acidemia type mut-
: code 79312
Vitamin B12-unresponsivemethylmalonic acidemia type mut0
: code 289916
Vitamin B12-unresponsivemethylmalonic aciduria
: code 27
Vitamin B12-unresponsivemethylmalonic aciduria type mut-
: code 79312
Vitamin B12-unresponsive
: code 289916
Vitamin D dependent rickets type I
: code 289157
Vitamin D-dependency type I
: code 289157
Vitamin D-dependent rickets type II
: code 93160
Vitamin D-resistant rickets type II
: code 93160
Vitamin K antagonistembryofetopathy
: code 1914
Vitamin K antagonist embryopathy
: code 1914
Vitelliform macular dystrophy type2
: code 1243
Vitiliginous choroiditis
: code 179
Vitreoretinal degeneration Wagnertype
: code 898
VLCAD deficiency
: code 26793
VLCADD
: code 26793
VMC
: code 386
VMCKD
: code 443988
VMCM
: code 2451
VMGLOM
: code 83454
Vocal cord and pharyngeal distalmyopathy
: code 600
VODI syndrome
: code 79124
Vogt-Koyanagi-Harada disease
: code 3437
Vohwinkel syndrome
: code 494
Vohwinkel syndrome withichthyosis
: code 79395
Volcke-Soekarman syndrome
: code 2427
Volubilis syndrome
: code 35737
Von Economo encephalitis
: code 83600
Von Gierke disease
: code 364
Von Hippel-Lindau disease
: code 892
Von Hippel-Lindau syndrome
: code 892
Von Hippel-Lindau-dependentpolycythemia
: code 238557
Von Meyenburg complexes disease
: code 386
Von Recklinghausen disease
: code 636
Von Recklinghausen disease due toNF1 mutation or intragenic deletion
: code 363700
Von Voss-Cherstvoy syndrome
: code 3439
Von Willebrand disease
: code 903
Von Willebrand disease type 1
: code 166078
Von Willebrand disease type 2
: code 166081
Von Willebrand disease type 2A
: code 166084
Von Willebrand disease type 2B
: code 166087
Von Willebrand disease type 2M
: code 166090
Von Willebrand disease type 2N
: code 166093
Von Willebrand disease type 3
: code 166096
VPS11-related autosomal recessivehypomyelinating leukodystrophy
: code 466934
VPS11-related autosomal recessive hypomyelinatingleukoencephalopathy
: code 466934
VPS45 deficiency
: code 369852
VPTR
: code 353356
VSD with aortic insufficiency
: code 99094
VTOS
: code 357131
Vulvar adenocarcinoma
: code 494454
Vulvar basal cell carcinoma
: code 494451
Vulvar intraepithelial neoplasia
: code 137583
Vulvar intraepithelial tumor
: code 137583
Vulvar squamous cell carcinoma
: code 494448
Vulvovaginal gingival syndrome
: code 83453
Vulvovaginal rhabdomyosarcoma
: code 206492
Vuopala disease
: code 53696
VWS
: code 888
W syndrome
: code 2804
Waaler-Aarskog syndrome
: code 2180
Waardenburg anophthalmiasyndrome
: code 1106
Waardenburg syndrome
: code 3440
Waardenburg syndrome type 1
: code 894
Waardenburg syndrome type 2
: code 895
Waardenburg syndrome type 2with ocular albinism
: code 352740
Waardenburg syndrome type 3
: code 896
Waardenburg syndrome type 4
: code 897
Waardenburg syndrome type I
: code 894
Waardenburg syndrome type II
: code 895
Waardenburg syndrome type III
: code 896
Waardenburg syndrome with limbanomalies
: code 896
Waardenburg-Hirschsprungsyndrome
: code 897
Waardenburg-Jonker cornealdystrophy
: code 98960
Waardenburg-Shah syndrome
: code 897
WABS
: code 280558
WAC-related facial dysmorphism- developmental delay-behavioralabnormalities syndrome
: code 466943
Wagenmann-Froboese syndrome
: code 247709
Wagner disease
: code 898
Wagner syndrome
: code 898
WAGR syndrome
: code 893
wAHA
: code 90033
Wahab syndrome
: code 357332
wAIHA
: code 90033
Waisman syndrome
: code 2379
Waldenstrm macroglobulinemia
: code 33226
Waldmann disease
: code 90362
Walker-Dyson syndrome
: code 1068
Walker-Warburg syndrome
: code 899
Wallis-Zieff-Goldblatt syndrome
: code 1453
WARBM
: code 2510
Warburg micro syndrome
: code 2510
Warburg-Thomsen syndrome
: code 3214
Warburton-Anyane-Yeboasyndrome
: code 1052
Warfarin embryofetopathy
: code 1914
Warfarin embryopathy
: code 1914
Warkany syndrome
: code 96061
Warm AIHA
: code 90033
Warman-Mulliken-Haywardsyndrome
: code 1541
Warsaw breakage syndrome
: code 280558
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
: code 51636
Warts-infections-leukopenia-myelokatexis syndrome
: code 51636
Warty dyskeratoma
: code 69745
WAS
: code 906
Water-West syndrome
: code 1046
Waterhouse-Friderichsen syndrome
: code 100067
Watery diarrhea-hypokalemia-achlorhydria syndrome
: code 97282
Watson syndrome
: code 636
WCD
: code 33577
WDFA
: code 284395
WDHA syndrome
: code 97282
WDLS
: code 99971
WDM
: code 603
Weaver syndrome
: code 3447
Weaver-like syndrome
: code 3447
Weaver-Williams syndrome
: code 3448
Weber-Christian disease
: code 33577
Weber-Christian panniculitis
: code 33577
Webster-Deming syndrome
: code 1521
Wegener granulomatosis
: code 900
Weidman juvenile elastoma
: code 228254
Weill-Marchesani syndrome
: code 3449
Weismann-Netter syndrome
: code 3344
Weismann-Netter-Stuhl syndrome
: code 3344
Weissenbacher- Zweymullersyndrome
: code 3450
Well-differentiated fetaladenocarcinoma of the lung
: code 284395
Well-differentiated liposarcoma
: code 99971
Well-differentiated neuroendocrineneoplasm of the endometrium
: code 213736
Well-differentiated neuroendocrinetumor of the corpus uteri
: code 213736
Well-differentiated neuroendocrinetumor of the endometrium
: code 213736
Well-differentiated thymicneuroendocrine carcinoma
: code 263331
Well-differentiated thyroidcarcinoma
: code 146
Wellesley-Carman-Frenchsyndrome
: code 1373
Wells syndrome
: code 901
Wells-Jankovic syndrome
: code 2815
Werdnig-Hoffmann disease
: code 83330
Wermer syndrome
: code 652
Werner mesomelic syndrome
: code 3332
Werner syndrome
: code 902
Werner-like syndrome due tocombined growth factor deficiency
: code 1979
West syndrome
: code 3451
West-Nile encephalitis
: code 83476
West-Nile fever
: code 83476
Westerhof-Beemer-Cormanesyndrome
: code 2435
Western equine encephalitis
: code 83593
Western equine encephalomyelitis
: code 83593
Westphall disease
: code 681
Weyers acrodental dysostosis
: code 952
Weyers acrofacial dysostosis
: code 952
Whelan syndrome
: code 2750
WHIM syndrome
: code 51636
Whipple disease
: code 3452
Whistling face syndrome
: code 2053
White fibrous papulosis of the neck
: code 228290
White forelock with malformations
: code 2475
White matter hypoplasia-corpus callosum agenesis-intellectualdisability syndrome
: code 3207
White platelet syndrome
: code 370131
White sponge nevus
: code 171723
White sponge nevus of Cannon
: code 171723
Whooping cough
: code 1489
Whyte-Murphy syndrome
: code 2779
Wieacker-Wolff syndrome
: code 3454
Wiedemann-Beckwith syndrome
: code 116
Wiedemann-Rautenstrauchsyndrome
: code 3455
Wiedemann-Steiner syndrome
: code 319182
Wild type ABeta2-microglobulinicamyloidosis
: code 85446
Wild type ABeta2M amyloidosis
: code 85446
Wild type ATTR amyloidosis
: code 330001
Wild type ATTR-related amyloidosis
: code 330001
Wildervanck syndrome
: code 3456
Willi-Prader syndrome
: code 739
Williams syndrome
: code 904
Williams-Beuren syndrome
: code 904
Williams-Campbell syndrome
: code 411501
WILM
: code 51636
Wilms tumor
: code 654
Wilms tumor andpseudohermaphroditism
: code 220
Wilms tumor-aniridia-genitourinary anomalies-intellectual disabilitysyndrome
: code 893
Wilson disease
: code 905
Wilson-Turner syndrome
: code 3459
Winchester syndrome
: code 3460
Winged helix deficiency
: code 169095
Winkelmann cytophagicpanniculitis
: code 94087
Winship-Viljoen-Leary syndrome
: code 2515
Wiskott-Aldrich syndrome
: code 906
Wissler-Fanconi syndrome
: code 829
Witkop syndrome
: code 2228
Witschel dystrophy
: code 101068
Wittwer syndrome
: code 280
WL syndrome
: code 3237
WNS
: code 3344
WNT4 deficiency
: code 247768
Wolcott-Rallison syndrome
: code 1667
Wolf-Hirschhorn syndrome
: code 280
Wolff-Zimmermann syndrome
: code 3080
Wolfram syndrome
: code 3463
Wolfram-like syndrome
: code 411590
Wolman disease
: code 75233
Woodhouse-Sakati syndrome
: code 3464
Woods-Black-Norbury syndrome
: code 2571
Woods-Crouchman-Husonsyndrome
: code 3255
Woolly hair
: code 170
Woolly hair nevus
: code 79414
Woolly hair-hypotrichosis-everted lower lip-outstanding earssyndrome
: code 1409
Woolly hair-palmoplantarhyperkeratosis syndrome
: code 420686
Woolly hair-palmoplantar hyperkeratosis-dilatedcardiomyopathy syndrome
: code 65282
Woolly hair-palmoplantarkeratoderma syndrome
: code 420686
Woolly hair-palmoplantar keratoderma-dilatedcardiomyopathy syndrome
: code 65282
Wooly hair
: code 170
Wooly hair nevus
: code 79414
Wooly hair-hypotrichosis-everted lower lip-outstanding earssyndrome
: code 1409
Wooly hair-palmoplantar hyperkeratosis-dilatedcardiomyopathy syndrome
: code 65282
Wooly hair-palmoplantar keratoderma-dilatedcardiomyopathy syndrome
: code 65282
Wormian bone-multiple fractures- dentinogenesis imperfecta-skeletaldysplasia
: code 166277
Worster-Drought syndrome
: code 3465
Worth syndrome
: code 2790
Wound botulism
: code 178475
Wound myiasis
: code 165955
Wrinkled skin syndrome
: code 2834
Wrinkly skin syndrome
: code 2834
WRS
: code 1667
WS
: code 902
WS1
: code 894
WS2
: code 895
WS3
: code 896
WS4
: code 897
WS4 plus
: code 163746
WSS
: code 2834
WT limb-blood syndrome
: code 3466
WTS
: code 3459
Wunderlich syndrome
: code 3411
WWS
: code 899
Wyburn-Mason syndrome
: code 53719
X small rings
: code 96201
X-ALD
: code 43
X-LAG (X-linked acrogigantism)
: code 300373
X-LAG (X-linked acrogigantism) dueto a point mutation
: code 448348
X-LAG (X-linked acrogigantism) dueto dup(X)q(26)
: code 448372
X-linked acqueductal stenosis
: code 2182
X-linked acrogigantism due to apoint mutation
: code 448348
X-linked acrogigantism due to Xq26microduplication
: code 448372
X-linked adrenoleukodystrophy
: code 43
X-linked agammaglobulinemia
: code 47
X-linked ALD
: code 43
X-linked Alport syndrome
: code 88917
X-linked Angelman-like syndrome
: code 85278
X-linked anhidrotic ectodermaldysplasia
: code 181
X-linked ataxia-deafness syndrome
: code 85297
X-linked ataxia-dementia syndrome
: code 85292
X-linked auditory neuropathy with peripheral sensory neuropathy type1
: code 139583
X-linked branchial arch syndrome
: code 1131
X-linked BSMA
: code 481
X-linked bulbospinal amyotrophy
: code 481
X-linked bulbospinal muscularatrophy
: code 481
X-linked calvarial hyperostosis
: code 391327
X-linked cardioskeletal myopathyand neutropenia
: code 111
X-linked central congenital hypothyroidism with late-onsetmacroorchidism
: code 329235
X-linked central congenital hypothyroidism with late-onsettesticular enlargement
: code 329235
X-linked centronuclear myopathy
: code 596
X-linked cerebraladrenoleukodystrophy
: code 139396
X-linked cerebral-cerebellar-coloboma syndrome
: code 163961
X-linked Charcot-Marie-Toothdisease type 1
: code 101075
X-linked Charcot-Marie-Toothdisease type 2
: code 101076
X-linked Charcot-Marie-Toothdisease type 3
: code 101077
X-linked Charcot-Marie-Toothdisease type 4
: code 101078
X-linked Charcot-Marie-Toothdisease type 5
: code 99014
X-linked Charcot-Marie-Toothdisease type 6
: code 352675
X-linked chondrodysplasia punctatatype 2
: code 35173glossia
: code 324601
X-linked colobomatous microphthalmia-microcephaly- intellectual disability-short staturesyndrome
: code 431140
X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardationsyndrome
: code 431140
X-linked complicated corpuscallosum dysgenesis
: code 1497
X-linked complicated spasticparaplegia type 1
: code 306617
X-linked cone dysfunctionsyndrome with myopia
: code 90001
X-linked congenital adrenalhypoplasia
: code 95702
X-linked congenital dyserythropoietic anemia withthrombocytopenia
: code 67044
X-linked congenital generalizedhypertrichosis
: code 79495
X-linked cutis laxa
: code 198
X-linked deafness type 2
: code 383
X-linked deafness-intellectualdisability syndrome syndrome
: code 85321
X-linked dHMN3
: code 139557
X-linked diffuse leiomyomatosis-Alport syndrome
: code 1018
X-linked distal arthrogryposismultiplex congenita
: code 1145
X-linked distal hereditary motorneuropathy type 3
: code 139557
X-linked distal spinal muscular
: code 139557
X-linked dominantchondrodysplasia punctata
: code 443197
X-linked dSMA3
: code 139557
X-linked dyserythropoetic anemia with abnormal platelets andneutropenia
: code 363727
X-linked dysplasia gigantismsyndrome
: code 373
X-linked dystonia-parkinsonism
: code 53351
X-linked Ehlers-Danlos syndrome
: code 75497
X-linked Emery-Dreifuss musculardystrophy
: code 98863
X-linked endothelial cornealdystrophy
: code 293621
X-linked epilepsy-learning disabilities-behavior disorderssyndrome
: code 85294
X-linked erythropoieticprotoporphyria
: code 443197
X-linked external auditory canal atresia-dilated internal auditorycanal-facial dysmorphism syndrome
: code 500188
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited tofemales
: code 480880
X-linked female restricted facial dysmorphism-short stature-choanalatresia-intellectual disability
: code 480880
X-linked fetal akinesia syndrome
: code 994
X-linked hereditary sensory and autonomic neuropathy withdeafness
: code 139583
X-linked HSAN with deafness
: code 139583
X-linked HSAS
: code 2182
X-linked hydrocephalus
: code 1397
X-linked hyper-IgM syndrome
: code 101088
X-linked hypohidrotic ectodermaldysplasia
: code 181
X-linked hypophosphatemia
: code 89936
X-linked hypophosphatemic rickets
: code 89936
X-linked ichthyosis
: code 461
X-linked IGHD
: code 231692
X-linked immunodeficiency with magnesium defect Epstein-Barrvirus infection and neoplasia
: code 317476
X-linked immunoneurologicdisorder
: code 2571
X-linked incomplete achromatopsia
X-linked intellectual disability withisolated growth hormone deficiency
: code 67045
X-linked intellectual disability withmarfanoid habitus
: code 776
X-linked intellectual disability Abiditype
: code 85273
X-linked intellectual disability Ahmad type
: code 85274
X-linked intellectual disability Armfield type
: code 85276
X-linked intellectual disability Atkin type
: code 1193
X-linked intellectual disability Brooks type
: code 3056
X-linked intellectual disability Cabezas type
: code 85293
X-linked intellectual disability Cantagrel type
: code 85277
X-linked intellectual disability Cilliers type
: code 163971
: code 93950
X-linked intellectual disability Golabi-Ito-Hall type
: code 93947
X-linked intellectual disability Gutype
: code 457240
X-linked intellectual disability Hedera type
: code 93952
X-linked intellectual disability Kroes type
: code 163961
X-linked intellectual disability Lubstype
: code 1762
X-linked intellectual disability Miles-Carpenter type
: code 85283
X-linked intellectual disability Najm type
: code 163937
X-linked intellectual disability Nascimento type
: code 163956
X-lin
X-linked intellectual disability Renpenning type
: code 3242
X-linked intellectual disability Schimke type
: code 85285
X-linked intellectual disability Seemanova type
: code 85323
X-linked intellectual disability Shashi type
: code 85286
X-linked intellectual disability Shrimpton type
: code 85324
X-linked intellectual disability Siderius type
: code 85287
X-linked intellectual disability Snyder type
: code 3063
X-linked intellectual disability South African type
: code 85278
: code 85326
X-linked intellectual disability Sutherland-Haan type
: code 93950
X-linked intellectual disability Turner type
: code 85328
X-linked intellectual disability VanEsch type
: code 163976
X-linked intellectual disability Vitale type
: code 85293
X-linked intellectual disability Wilson type
: code 85290
X-linked intellectual disability Wittwer type
: code 280
X-linked intellectual disability Zorick type
: code 59
X-linked intellectual disability-acromegaly-hyperactivity syndrome
: code 85327
X-linked intellectual disability- cardiomegaly-congestive heartfailure syndrome
: code 324410
X-linked intellectual disability-cerebellar hypoplasia syndrome
: code 137831
X-linked intellectual disability- cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
: code 459070
X-linked intellectual disability- choreoathetosis-abnormal behaviorsyndrome
: code 85295
X-linked intellectual disability- corpus callosum agenesis-spasticquadriparesis syndrome
: code 85330
X-linked intellectual disability- craniofacial dysmorphism-epilepsy- ophthalmoplegia-cerebellar atrophysyndrome
: code 85278
X-linked intellectual disability-craniofacioskeletal syndrome
: code 163979
X-linked intellectual disability- cubitus valgus-dysmorphismsyndrome
: code 85280
: code 85319
X-linked intellectual disability- epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
: code 85282
X-linked intellectual disability- global development delay-facial dysmorphism-sacral caudal remnantsyndrome
: code 480907
X-linked intellectual disability-gynecomastia-obesity syndrome
: code 3459
X-linked intellectual disability- hypogammaglobulinemia- progressive neurologicaldeterioration syndrome
: code 85317
X-linked intellectual disability- hypogonadism-ichthyosis-obesity-short stature syndrome
: code 3055
X-linked intellectual disability-hypotonia syndrome
: code 59
X-linked intellectual disability- hypotonia-facial dysmorphism-aggressive behavior syndrome
: code 85329
X-linked intellectual disability- hypotonia-movement disordersyndrome
: code 457260
X-linked intellectual disability- hypotonia-recurrent Infectionssyndrome: code 251383
X-linked intellectual disability- microcephaly-pontocerebellarhypoplasia syndrome
: code 163937
X-linked intellectual disability- microcephaly-testicular failuresyndrome
: code 163971
X-linked intellectual disability- monoamine oxidase A metabolismanomaly syndrome
: code 3057
X-linked intellectual disability-naildystrophy-seizures syndrome
: code 163956
X-linked intellectual disability-plagiocephaly syndrome
: code 2898
X-linked intellectual disability- precocious puberty-obesitysyndrome
: code 85318
X-linked intellectual disability- psychosis-macroorchidismsyndrome
: code 3077
X-linked intellectual disability-retinitis pigmentosa syndrome
: code 85332
X-linked intellectual disability-seizures-psoriasis syndrome
: code 3052: code 90625
X-linked isolated sensorineuraldeafness type DFN
: code 90625
X-linked isolated sensorineuralhearing loss type DFN
: code 90625
X-linked juvenile retinoschisis
: code 792
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
: code 482606
X-linked lethal multiple pterygiumsyndrome
: code 79447
X-linked lissencephaly type 1
: code 2148
X-linked lissencephaly withabnormal genitalia
: code 452
X-linked lissencephaly withambiguous genitalia
: code 452
X-linked lissencephaly-corpus callosum agenesis-genital anomaliessyndrome
: code 452
X-linked lymphoproliferativedisease
X-linked mendelian susceptibility tomycobacterial diseases
: code 319605
X-linked mendelian susceptibility to mycobacterial diseases due to CYBBdeficiency
: code 319623
X-linked mendelian susceptibility to mycobacterial diseases due toIKBKG deficiency
: code 319612
X-linked mendelian susceptibility to mycobacterial diseases due toNEMO deficiency
: code 319612
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
: code 435938
X-linked mixed conductive andneurosensory deafness
: code 383
X-linked mixed conductive andneurosensory hearing loss
: code 383
X-linked mixed conductive andsensorineural deafness
: code 383
X-linked mixed conductive andsensorineural hearing loss
: code 383
X-linked MSMD due to IKBKGdeficiency
: code 319612
X-linked MSMD due to NEMOdeficiency
: code 319612
X-linked myopathy with excessiveautophagy
: code 25980
X-linked myopathy with posturalmuscle atrophy
: code 178461
X-linked myotubular myopathy
: code 596
X-linked myotubular myopathy-abnormal genitalia syndrome
: code 456328
X-linked neurodegenerativesyndrome Bertini type
: code 85334
X-linked neurodegenerativesyndrome Hamel type
: code 85336
X-linked non progressive cerebellarataxia
: code 314978
X-linked non-specific intellectualdisability
: code 777
X-linked non-syndromicsensorineural deafness type DFN
: code 90625
X-linked non-syndromicsensorineural hearing loss type DFN
: code 90625
X-linked Ohdo syndrome
: code 293707
X-linked Opitz BBB/G syndrome
: code 306597
X-linked Opitz G/BBB syndrome
: code 306597
X-linked Opitz syndrome
: code 306597
X-linked osteoporosis withfractures
: code 391330
X-linked parkinsonism-spasticitysyndrome
: code 363654
X-linked progressive cerebellarataxia
: code 1175
X-linked recessive hypercalciurichypophosphatemic rickets
: code 1652
X-linked recessive ocular albinism
: code 54
X-linked reticulate pigmentarydisorder
: code 85453
X-linked retinal dysplasia
: code 1852
X-linked retinoschisis
: code 792
X-linked scapuloperoneal musculardystrophy
: code 431272
X-linked scapuloperoneal syndrome
: code 431272
X-linked severe congenitalneutropenia
: code 86788
X-linked sideroblastic anemia
: code 75563
X-linked sideroblastic anemia andspinocerebellar ataxia
X-linked skeletal dysplasia-intellectual disability syndrome
: code 1436
X-linked spastic paraplegia type 2
: code 99015
X-linked spastic paraplegia type 16
: code 100997
X-linked spastic paraplegia type 34
: code 171607
X-linked spasticity-intellectualdisability-epilepsy syndrome
: code 3175
X-linked spinal and bulbar muscularatrophy
: code 481
X-linked spinal muscular atrophytype 2
: code 1145
X-linked spinal muscular atrophywith respiratory distress
: code 404521
X-linked spinocerebellar ataxia type3
: code 85297
X-linked spinocerebellar ataxia type4
: code 85292
X-linked spinocerebellar ataxia type
: code 314978
X-linked SPMD
: code 431272
X-linked spondyloepimetaphysealdysplasia
: code 93349
X-linked spondylometaphysealdysplasia
: code 168544
X-linked stapes gusher syndrome
: code 383
X-linked thrombocytopenia withnormal platelets
: code 852
Xanthic urolithiasis
: code 3467
Xanthine dehydrogenase and xanthine aldehyde oxidase dualdeficiency
: code 93602
Xanthine dehydrogenase deficiency
: code 93601: code 93601
Xanthine stone disease
: code 3467
Xanthinuria type I
: code 93601
Xanthinuria type II
: code 93602
Xanthoma disseminatum
: code 158003
Xanthous oculocutaneous albinism
: code 79433
Xanthurenic aciduria
: code 79155
XDAT
: code 67044
XDH and AOX dual deficiency
: code 93602
XDH deficiency
: code 93601
XECD
: code 293621
Xeroderma pigmentosum
: code 910
Xeroderma pigmentosum variant
: code 90342
Xeroderma pigmentosum withneurologic manifestation
: code 910
Xeroderma pigmentosum-Cockaynesyndrome complex
: code 220295
XGPT deficiency
: code 75496
XHED
: code 181
XHIGM
: code 101088
Xia-Gibbs syndrome
: code 412069
XK aprosencephaly syndrome
: code 3469
XK syndrome
: code 3469
XK-aprosencephaly
: code 3469
XLAG (X-linked lissencephaly withabnormal genitalia) syndrome
: code 452
XLCNM
: code 596
XLDPP
: code 443197
XLG
: code 264580
XLH
: code 89936
XLI
: code 461
XLMTM
: code 596
XLOA
: code 54
XLOS
: code 306597
XLP
: code 2442
XLP
: code 443197
XLPDR
: code 85453
XLPP
: code 443197
XLRS
: code 792
XLSA
: code 75563
XLSA-A
: code 2802
XLTT
: code 231393
XMEA
: code 25980
XMEN
: code 317476
XMPMA
: code 178461
XO deficiency
: code 93601
XOR deficiency
: code 93601
XP
: code 910
XP/CS complex
: code 220295
Xp21 contiguous gene deletionsyndrome
: code 261476
Xp21 microdeletion syndrome
: code 261476
Xp22.13p22.2 duplicationsyndrome
: code 284180
Xp22.3 microdeletion syndrome
: code 1643
XPDS
: code 363654
XPV
: code 90342
Xq12-q13.3 duplication syndrome
: code 314389
Xq22.3 microdeletion syndrome
: code 1018
Xq27.3-q28 microduplicationsyndrome
: code 261483
Xq27.3q28 duplication syndrome
: code 261483
Xq28 contiguous gene deletionsyndrome
: code 456328
XX female gonadal dysgenesis
: code 243
XX gonodal dysgenesis-deafnesssyndrome
: code 2855
XX male syndrome
: code 393
XX-GD
: code 243
XXX syndrome
: code 3375
XY gonadal agenesis syndrome
: code 983
XY sex reversal-adrenal failure
: code 168558
XY type gonadal dysgenesis-associated anomalies syndrome
: code 1770
Xylitol dehydrogenase deficiency
: code 2843
Xylosylprotein 4-beta-galactosyltransferase deficiency
: code 75496
XYLT1-CDG
: code 370930
XYY syndrome
: code 8
Y disomy
: code 8
Yakut short stature syndrome
: code 2616
Yellow fever
: code 99829
Yellow Jack
: code 99829
Yellow nail syndrome
: code 662
Yellow oculocutaneous albinism
: code 79434
Yemenite deaf-blindhypopigmentation syndrome
: code 3214
Yersiniosis
: code 707
YF
: code 99829
YNS
: code 662
: code 252006
Yolk sac tumor of CNS
: code 252006
YOPD
: code 2828
Yorifuji-Okuno syndrome
: code 2255
Yoshimura-Takeshita syndrome
: code 3240
You-Hoover-Fong syndrome
: code 488642
Young adult-onset dHMN
: code 314485
Young adult-onset distal hereditarymotor neuropathy
: code 314485
Young syndrome
: code 3471
Young-Hughes syndrome
: code 3055
Young-onset Parkinson disease
: code 2828
Yuan-Harel-Lupski syndrome
: code 477817
Yunis-Varon syndrome
: code 3472
YY1 haploinsufficiency syndrome
: code 506358
Zambian hemorrhagic fever
: code 319213
ZASP-related myofibrillar myopathy
: code 98912
Zebra body myopathy
: code 97240
Zechi-Ceide syndrome
: code 217017
Zellweger syndrome
: code 912
Zellweger-like contiguous genedeletion syndrome
: code 369942
Zellweger-like syndrome withoutperoxisomal anomalies
: code 50812
Zeta-associated-protein 70deficiency
: code 911
Zika virus disease
: code 448237
Zika virus infection
: code 448237
Zimmer phocomelia
: code 3301
Zimmermann-Laband syndrome
: code 3473
Zinc-responsive necrolytic acralerythema
: code 439196
Zinsser-Engman-Cole syndrome
: code 1775
Zlotogora-Ogur syndrome
: code 3253
Zlotogora-Zilberman-Tenenbaumsyndrome
: code 3253
Zollinger-Ellison syndrome
: code 913
Zori-Stalker-Williams syndrome
: code 2835
ZS
: code 912
Zunich-Kaye syndrome
: code 3474
Zygodactyly type 1
: code 295187
Zygodactyly type 2
: code 295189
Zygodactyly type 3
: code 295191
Zygodactyly type 4
: code 295193
Zygodactyly Castilla type
: code 295193
Zygodactyly Lueken type
: code 295189
Zygodactyly Montagu type
: code 295191
Zygodactyly Weidenreich type
: code 295187
Zygomycosis
: code 73263
I have read and agree to the terms of the Privacy and Data Storage Policies of Engage Health, and consent to being contacted by them.
×
Available Health Research Opportunities