Disease
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Genetic disease (disorder)
Genetic disease
genetische aandoening
genetische ziekte
Id782964007
StatusPrimitive
ICD-10 complex map reference set
Target
RuleTRUE
AdviceMAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
CorrelationSNOMED CT source code to target map code correlation not specified
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17q24.2 microdeletion syndrome
19p13.3 microduplication syndrome
20q11.2 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
3-methylglutaconic aciduria type 8
9q21.13 microdeletion syndrome
Acrocephalosyndactyly6
Adenocarcinoma of pancreas with NRG1 fusion
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 7
Amyotrophic lateral sclerosis, parkinsonism, dementia complex
Angelman syndrome1
Ataxia, photosensitivity, short stature syndrome
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
Barber-Say syndrome
Blau syndrome2
Boomerang dysplasia
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
Camptodactyly syndrome Guadalajara type 3
Capra DeMarco syndrome
CELSR1-related late-onset primary lymphedema
Cerebro-costo-mandibular syndrome
CHARGE syndrome
Chronic diarrhea with villous atrophy syndrome
Clear cell sarcoma of kidney
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome
Cloverleaf skull syndrome2
Cogan-Reese syndrome
Cole-Carpenter dysplasia
Combined immunodeficiency with granulomatosis
Conductive deafness, malformed external ear syndrome
Congenital fibrosis syndrome2
Congenital generalized hypercontractile muscle stiffness syndrome
Congenital hydrocephalus, low insertion of umbilicus syndrome
Congenital myopathy with fiber type disproportion5
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome
Congenital primary lymphedema of Gordon
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome
Congenital secretory diarrhea, sodium type
Congenital woolly hair Congenital wooly hair3
Diaphragmatic hernia, short bowel, asplenia syndrome
DNA instability syndrome
DYRK1A-related intellectual disability syndrome1
Dysraphism, cleft lip and palate, limb reduction defect syndrome
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
EPHB4-related lymphatic-related hydrops fetalis
Familial hematuria
Familial isolated clinodactyly of finger
Familial isolated retinal arterial tortuosity
Familial multiple lipomata
Familial temporal lobe epilepsy
Femur fibula ulna complex
Focal facial dermal dysplasia4
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome
Fryns Smeets Thiry syndrome
Generalized glucocorticoid resistance syndrome1
Generalized pustular psoriasis5
Genetic defect of hair shaft2
Genetic disorder of nail51
Genetic lipodystrophy8
GJC2-related late-onset primary lymphedema
Hadziselimovic syndrome
Hallermann Streiff like syndrome
Hallermann-Streiff syndrome
Heart defect, tongue hamartoma, polysyndactyly syndrome
Hemolytic uremic syndrome7
Hereditary disease41
Hirschsprung disease, ganglioneuroblastoma syndrome
Humeroradioulnar synostosis
Hyaline fibromatosis syndrome2
Hypogonadism with anosmia1
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
Isolated familial renal hypomagnesemia
Joint contractures, developmental delay, Pierre Robin syndrome
Klippel-Feil sequence2
Kosaki overgrowth syndrome
Lethal hydranencephaly, diaphragmatic hernia syndrome
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Lissencephaly with cerebellar hypoplasia6
LRP5-related primary osteoporosis
Maffucci syndrome
Male infertility of genetic origin4
Malignant melanoma with BRAF V600E mutation
Malignant tumor of esophagus with NRG1 fusion
Mandibulofacial dysostosis with alopecia
Maturity-onset diabetes of the young12
Metopic ridging, ptosis, facial dysmorphism syndrome
Microcystic renal disease
Microphthalmia, microtia, fetal akinesia syndrome
Mixed sclerosing bone dystrophy with extra-skeletal manifestation
MMEP syndrome
Monogenic autoinflammatory syndrome1
Multiple paraganglioma associated with polycythemia
Muscular dystrophy4
MYH9 related disease
Myopathy and diabetes mellitus
Nemaline myopathy3
Non syndromic camptodactyly of fingers
Non-small cell lung carcinoma with NRG1 fusion
Non-syndromic metopic craniosynostosis
Oral-facial-digital syndrome14
Osteogenesis imperfecta11
Osteoglophonic dysplasia
Ovotesticular disorder of sex development2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome
Pancreatic agenesis, holoprosencephaly syndrome
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
Postlingual non-syndromic genetic deafness
Prader-Willi syndrome
Prader-Willi-like syndrome3
Prelingual non-syndromic genetic deafness
Primary tethered cord syndrome
Progressive supranuclear palsy2
Proximal myopathy with focal depletion of mitochondria
Radioulnar synostosis with microcephaly and scoliosis syndrome
RNF13-related severe early-onset epileptic encephalopathy
SATB2-associated syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract
Short rib dysplasia4
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
Solid neoplasm with neurotrophic receptor tyrosine kinase gene fusion
Solitary median maxillary central incisor syndrome
STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
Syndactyly, polydactyly, ear lobe syndrome
Taurodontism4
Thin ribs, tubular bones, dysmorphism syndrome
Timothy syndrome3
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
Trinucleotide repeat disorder
Tubulinopathy-associated dysgyria
WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome1
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
Williams syndrome
Winchester syndrome