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782964007: Genetic disease (disorder)

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756960017 Genetic disease en Synonym Active Case insensitive SNOMED CT core
3756961018 Genetic disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4865 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disease Is a Disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Deoxyribonucleic acid instability syndrome Is a True Genetic disease Inferred relationship Some
Hereditary disease Is a True Genetic disease Inferred relationship Some
Osteogenesis imperfecta Is a True Genetic disease Inferred relationship Some
Microcystic renal disease Is a True Genetic disease Inferred relationship Some
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Is a True Genetic disease Inferred relationship Some
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Is a True Genetic disease Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome Is a True Genetic disease Inferred relationship Some
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Is a False Genetic disease Inferred relationship Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Is a True Genetic disease Inferred relationship Some
Myopathy and diabetes mellitus Is a True Genetic disease Inferred relationship Some
Familial temporal lobe epilepsy Is a True Genetic disease Inferred relationship Some
Combined immunodeficiency with granulomatosis Is a True Genetic disease Inferred relationship Some
Conductive deafness, malformed external ear syndrome Is a True Genetic disease Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome Is a True Genetic disease Inferred relationship Some
Heart defect, tongue hamartoma, polysyndactyly syndrome Is a True Genetic disease Inferred relationship Some
Taurodontism Is a True Genetic disease Inferred relationship Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E Is a False Genetic disease Inferred relationship Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A Is a False Genetic disease Inferred relationship Some
Genetic defect of hair shaft Is a True Genetic disease Inferred relationship Some
Solid neoplasm with neurotrophic receptor tyrosine kinase gene fusion Is a True Genetic disease Inferred relationship Some
Genetic disorder of nail Is a True Genetic disease Inferred relationship Some
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Is a True Genetic disease Inferred relationship Some
21q22.11q22.12 microdeletion syndrome Is a True Genetic disease Inferred relationship Some
Rabson-Mendenhall syndrome Associated with True Genetic disease Inferred relationship Some 2
Myopathy and diabetes mellitus Associated with True Genetic disease Inferred relationship Some 3
Diabetes-deafness syndrome maternally transmitted Associated with True Genetic disease Inferred relationship Some 1
Diabetes mellitus associated with genetic syndrome Associated with True Genetic disease Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Due to False Genetic disease Inferred relationship Some 3
Wolfram-like syndrome Due to True Genetic disease Inferred relationship Some 4
Hyperproinsulinaemia Associated with False Genetic disease Inferred relationship Some 1
Insulin-dependent diabetes mellitus secretory diarrhoea syndrome Associated with False Genetic disease Inferred relationship Some 1
Diabetes mellitus AND insipidus with optic atrophy AND deafness Associated with True Genetic disease Inferred relationship Some 3
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Due to False Genetic disease Inferred relationship Some 4
Impaired glucose tolerance associated with genetic syndrome Associated with True Genetic disease Inferred relationship Some 1
Haemolytic uraemic syndrome Is a True Genetic disease Inferred relationship Some
Boomerang dysplasia Is a True Genetic disease Inferred relationship Some
Osteoglophonic dysplasia Is a True Genetic disease Inferred relationship Some
Winchester syndrome Is a True Genetic disease Inferred relationship Some
Congenital woolly hair Is a True Genetic disease Inferred relationship Some
Williams syndrome Is a True Genetic disease Inferred relationship Some
Maffucci syndrome Is a True Genetic disease Inferred relationship Some
Klippel-Feil sequence Is a True Genetic disease Inferred relationship Some
Angelman syndrome Is a True Genetic disease Inferred relationship Some
Lissencephaly with cerebellar hypoplasia Is a True Genetic disease Inferred relationship Some
Prader-Willi syndrome Is a True Genetic disease Inferred relationship Some
Hallermann-Streiff syndrome Is a True Genetic disease Inferred relationship Some
Focal facial dermal dysplasia Is a True Genetic disease Inferred relationship Some
Trinucleotide repeat disorder Is a True Genetic disease Inferred relationship Some
Woodhouse Sakati syndrome Associated with True Genetic disease Inferred relationship Some 4
Blau syndrome Is a True Genetic disease Inferred relationship Some
Generalised glucocorticoid resistance syndrome Is a True Genetic disease Inferred relationship Some
Male infertility of genetic origin Is a True Genetic disease Inferred relationship Some
Cogan-Reese syndrome Is a True Genetic disease Inferred relationship Some
Genetic lipodystrophy Is a True Genetic disease Inferred relationship Some
Malignant melanoma with BRAF V600E mutation Is a True Genetic disease Inferred relationship Some
Familial haematuria Is a True Genetic disease Inferred relationship Some
Isolated familial renal hypomagnesaemia Is a True Genetic disease Inferred relationship Some
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Associated with True Genetic disease Inferred relationship Some 7
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Associated with True Genetic disease Inferred relationship Some 7
Amyotrophic lateral sclerosis, parkinsonism, dementia complex Is a True Genetic disease Inferred relationship Some
Barber-Say syndrome Is a True Genetic disease Inferred relationship Some
Postlingual non-syndromic genetic deafness Is a False Genetic disease Inferred relationship Some
Prelingual non-syndromic genetic deafness Is a False Genetic disease Inferred relationship Some
Generalised pustular psoriasis Is a True Genetic disease Inferred relationship Some
Cerebro-costo-mandibular syndrome Is a True Genetic disease Inferred relationship Some
Familial multiple lipomata Is a True Genetic disease Inferred relationship Some
Short rib dysplasia Is a True Genetic disease Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome Is a True Genetic disease Inferred relationship Some
Humeroradioulnar synostosis Is a True Genetic disease Inferred relationship Some
Familial lambdoid synostosis Is a False Genetic disease Inferred relationship Some
Craniosynostosis, hydrocephalus, Arnold-Chiari malformation type I, radioulnar synostosis syndrome Is a True Genetic disease Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a True Genetic disease Inferred relationship Some
Solitary median maxillary central incisor syndrome Is a True Genetic disease Inferred relationship Some
Acrocephalosyndactyly Is a True Genetic disease Inferred relationship Some
Cloverleaf skull syndrome Is a True Genetic disease Inferred relationship Some
Familial isolated clinodactyly of finger Is a True Genetic disease Inferred relationship Some
Emery-Dreifuss muscular dystrophy Is a False Genetic disease Inferred relationship Some
Primary tethered cord syndrome Is a True Genetic disease Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome Is a True Genetic disease Inferred relationship Some
Adenocarcinoma of pancreas with NRG1 fusion Is a True Genetic disease Inferred relationship Some
Non-small cell lung carcinoma with NRG1 fusion Is a True Genetic disease Inferred relationship Some
Muscular dystrophy Is a True Genetic disease Inferred relationship Some
Malignant tumour of oesophagus with NRG1 fusion Is a True Genetic disease Inferred relationship Some
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Is a True Genetic disease Inferred relationship Some
Female infertility due to genetic disease Due to True Genetic disease Inferred relationship Some 3
MMEP syndrome Is a True Genetic disease Inferred relationship Some
Cole-Carpenter dysplasia Is a True Genetic disease Inferred relationship Some
Progressive supranuclear palsy Is a True Genetic disease Inferred relationship Some
Chronic diarrhoea with villous atrophy syndrome Is a True Genetic disease Inferred relationship Some
Oro-facial digital syndrome type 1 Is a False Genetic disease Inferred relationship Some
Non syndromic camptodactyly of fingers Is a True Genetic disease Inferred relationship Some
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a True Genetic disease Inferred relationship Some
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome Is a True Genetic disease Inferred relationship Some
LRP5-related primary osteoporosis Is a True Genetic disease Inferred relationship Some
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Is a True Genetic disease Inferred relationship Some
Camptodactyly syndrome Guadalajara type 3 Is a True Genetic disease Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome Is a True Genetic disease Inferred relationship Some
Maturity-onset diabetes of the young Is a True Genetic disease Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a True Genetic disease Inferred relationship Some
Kosaki overgrowth syndrome Is a True Genetic disease Inferred relationship Some
Congenital generalised hypercontractile muscle stiffness syndrome Is a True Genetic disease Inferred relationship Some

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