Genetic disease

Code	`782964007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20190731

76726300722q11.2 deletion syndrome disorder

69931000022q13.3 deletion syndrome disorder

12226710093-methylglutaconic aciduria type 8 disorder

1300120005ALPI-related inflammatory bowel disease disorder

1363370009ATAD3A mitochondrial disease disorder

268262006Acrocephalosyndactyly disorder

111029001Acrokeratoelastoidosis of Costa disorder

1141626005Adenocarcinoma of pancreas with NRG1 fusion disorder

232049001Adult vitelliform macular dystrophy disorder

1299152003Adult-onset progressive leucoencephalopathy, early-onset deafness disorder

81854007Alexander disease disorder

1204334005Amyotrophic lateral sclerosis type 6 disorder

1204349002Amyotrophic lateral sclerosis type 7 disorder

838276009Amyotrophic lateral sclerosis, parkinsonism, dementia complex disorder

703525006Anhidrotic ectodermal dysplasia with immune deficiency disorder

1237366005Aprosencephaly cerebellar dysgenesis disorder

408537003Barber-Say syndrome disorder

818950005Blau syndrome disorder

254054000Boomerang dysplasia disorder

1222668001CELSR1-related late-onset primary lymphoedema disorder

1335845008CFTR-related disorder disorder

47535005CHARGE syndrome disorder

1304276001CHD8 overgrowth syndrome disorder

1172633003Camptodactyly syndrome Guadalajara type 3 disorder

720815000Capra DeMarco syndrome disorder

51780007Cerebro-costo-mandibular syndrome disorder

734019006Chronic diarrhoea with villous atrophy syndrome disorder

1187464007Clear cell sarcoma of kidney disorder

1187039001Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome disorder

254022009Cloverleaf skull syndrome disorder

404633004Cogan-Reese syndrome disorder

389199001Cole-Carpenter dysplasia disorder

783743009Combined immunodeficiency with granulomatosis disorder

1351268008Common variable immunodeficiency due to TACI deficiency disorder

1295181006Complex multigenic autoinflammatory syndrome disorder

783742004Conductive deafness, malformed external ear syndrome disorder

1303582008Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome disorder

1260140008Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome disorder

400946004Congenital fibrosis syndrome disorder

1174000008Congenital generalised hypercontractile muscle stiffness syndrome disorder

1208346003Congenital hydrocephalus, low insertion of umbilicus syndrome disorder

240084007Congenital myopathy with fibre type disproportion disorder

1172589000Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome disorder

1222669009Congenital primary lymphoedema of Gordon disorder

1177173001Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome disorder

782689003Congenital pseudoarthrosis of limb disorder

18805001Congenital secretory diarrhoea, sodium type disorder

1379963005Craniosynostosis, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome disorder

721088003DEND syndrome disorder

402784007DNA instability syndrome disorder

1217373008Diaphragmatic hernia, short bowel, asplenia syndrome disorder

236475007Dibasic aminoaciduria disorder

1293116008Diffuse capillary malformation with overgrowth disorder

24269006Distal arthrogryposis syndrome disorder

1363579009Dysplastic cortical hyperostosis disorder

1208338004Dysraphism, cleft lip and palate, limb reduction defect syndrome disorder

1222666002EPHB4-related lymphatic-related hydrops fetalis disorder

1351844007Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to SOCS1 haploinsufficiency disorder

1366590005Early-onset neurodegeneration, choreoathetoid movement, microcytic anaemia due to IREB2 mutation disorder

1169356004Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome disorder

1304114004Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome disorder

1351853000Familial hyperinflammatory lymphoproliferative immunodeficiency disorder

1296480005Familial hyperinsulinemic hypoglycaemia disorder

763691008Familial isolated clinodactyly of finger disorder

1231183003Familial isolated retinal arterial tortuosity disorder

404063007Familial multiple lipomata disorder

783739005Familial temporal lobe epilepsy disorder

1230098009Femur fibula ulna complex disorder

789156003Focal facial dermal dysplasia disorder

1332509007Fragile X associated primary ovarian insufficiency disorder

1177166006Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome disorder

1222670005GJC2-related late-onset primary lymphoedema disorder

1281842000GNAO1-related developmental delay, seizures, movement disorder spectrum disorder

819950002Generalised glucocorticoid resistance syndrome disorder

402774006Genetic defect of hair shaft disorder

1367653005Genetic disease of glomerulus disorder

402775007Genetic disorder of nail disorder

724839001Genetic disorder of skin pigmentation disorder

1362108000Genetic intellectual disability disorder

724841000Genetic lipodystrophy disorder

1359741006Genetic obesity disorder disorder

719395001Hadziselimovic syndrome disorder

111407006Haemolytic uraemic syndrome disorder

1197057002Hallermann Streiff like syndrome disorder

7903009Hallermann-Streiff syndrome disorder

783738002Heart defect, tongue hamartoma, polysyndactyly syndrome disorder

32895009Hereditary disease disorder

783737007Hirschsprung disease, ganglioneuroblastoma syndrome disorder

773733000Humeroradioulnar synostosis disorder

1197494003Hyaline fibromatosis syndrome disorder

191009009Hyperimmunoglobulin E syndrome disorder

93559003Hypogonadism with anosmia disorder

724281002Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome disorder

1303273003IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome disorder

67510007Ichthyosis hystrix disorder

1197476009Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia disorder

1186652002Inflammatory bowel disease, recurrent sinopulmonary infection syndrome disorder

1303868000Intermediate DEND syndrome disorder

48655003Isolated familial renal hypomagnesaemia disorder

716196007Isolated polycystic liver disease disorder

1348307004Isolated primary pigmented nodular adrenocortical disease disorder

1351655009Jansen-de Vries syndrome disorder

1216940001Joint contractures, developmental delay, Pierre Robin syndrome disorder

1304116002KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome disorder

1304117006KLHL7-related Crisponi/cold-induced sweating-like syndrome disorder

5601008Klippel-Feil sequence disorder

1172898008Kosaki overgrowth syndrome disorder

1169364005LRP5-related primary osteoporosis disorder

1260467009Large congenital pigmented melanocytic naevus of skin disorder

238091006Lecithin cholesterol acyltransferase deficiency disorder

1172705006Lethal hydranencephaly, diaphragmatic hernia syndrome disorder

715817007Lissencephaly with cerebellar hypoplasia disorder

446263001Loeys-Dietz syndrome disorder

1300117002Luscan Lumish syndrome disorder

1363285001MIR140-related spondyloepiphyseal dysplasia disorder

715533002MMEP syndrome disorder

712922002MYH9 related disease disorder

46041001Maffucci syndrome disorder

236792002Male infertility of genetic origin disorder

405501007Malignant hyperthermia disorder

830150003Malignant melanoma with BRAF V600E mutation disorder

1144764001Malignant tumour of oesophagus with NRG1 fusion disorder

1216943004Mandibulofacial dysostosis with alopecia disorder

1303865002Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome disorder

609561005Maturity-onset diabetes of the young disorder

1354648006Mayer Rokitansky Küster Hauser syndrome disorder

715652002Mesomelic dysplasia Savarirayan type disorder

57088004Microcystic renal disease disorder

1230344000Microphthalmia, microtia, fetal akinesia syndrome disorder

83579008Mixed gonadal dysgenesis disorder

783723003Mixed sclerosing bone dystrophy with extra-skeletal manifestation disorder

724593005Monogenic autoinflammatory syndrome disorder

1382230003Mosaic neurofibromatosis type 3 disorder

715907003Multiple endocrine neoplasia type 4 disorder

30664006Multiple endocrine neoplasia, type 1 disorder

1197217007Multiple paraganglioma associated with polycythaemia disorder

73297009Muscular dystrophy disorder

783722008Myopathy and diabetes mellitus disorder

75072002Nemaline myopathy disorder

92503002Neurofibromatosis type 2 disorder

1237228009Night blindness, skeletal anomalies, dysmorphism syndrome disorder

1163260008Non syndromic camptodactyly of fingers disorder

1141627001Non-small cell lung carcinoma with NRG1 fusion disorder

1260199008Non-syndromic genetic hearing loss disorder

1231181001Non-syndromic metopic craniosynostosis disorder

38215007Oculodentodigital syndrome disorder

1356735003Oculogastrointestinal neurodevelopmental syndrome disorder

52868006Oral-facial-digital syndrome disorder

78314001Osteogenesis imperfecta disorder

254144002Osteoglophonic dysplasia disorder

1234907000Ovotesticular disorder of sex development disorder

1336114003PAPASH syndrome disorder

1222667006PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis disorder

768473009PURA syndrome disorder

1222660008Pancreatic agenesis, holoprosencephaly syndrome disorder

1386282003Periodontitis with genetic disorder disorder

1363586001Preaxial digit brachydactyly, webbed fingers disorder

768939009Primary tethered cord syndrome disorder

192976002Progressive supranuclear palsy disorder

1197756002Proximal myopathy with focal depletion of mitochondria disorder

1222659003RNF13-related severe early-onset epileptic encephalopathy disorder

715505002Rhizomelic dysplasia Patterson Lowry type disorder

716200002Schofer Beetz Bohl syndrome disorder

787094005Segmental progressive overgrowth syndrome with fibroadipose hyperplasia disorder

254050009Short rib dysplasia disorder

786710002Solid neoplasm with neurotrophic receptor tyrosine kinase gene fusion disorder

707609006Solitary median maxillary central incisor syndrome disorder

1237577000Symptomatic form of Coffin-Lowry syndrome in female carrier disorder

1351274008Symptomatic form of X-linked centronuclear myopathy in female carrier disorder

783562005Syndactyly, nystagmus syndrome due to 2q31.1 microduplication disorder

783700001Syndactyly, polydactyly, ear lobe syndrome disorder

1208998007TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome disorder

1300124001TRIM22-related inflammatory bowel disease disorder

51744007Taurodontism disorder

55166000Thiemann disease familial form disorder

783004003Thin ribs, tubular bones, dysmorphism syndrome disorder

1230096008Timothy syndrome disorder

792856002Trinucleotide repeat disorder disorder

1187215002Tubulinopathy-associated dysgyria disorder

715532007Weismann Netter syndrome disorder

63247009Williams syndrome disorder

254151006Winchester syndrome disorder

1255278004X-linked myotubular myopathy, abnormal genitalia syndrome disorder

Parents (1)

Children (183)