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782964007: Genetic disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

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

4868 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disease Is a Disease true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Deoxyribonucleic acid instability syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Hereditary disease Is a True Genetic disease Inferred relationship Existential restriction modifier
Osteogenesis imperfecta Is a True Genetic disease Inferred relationship Existential restriction modifier
Microcystic renal disease Is a True Genetic disease Inferred relationship Existential restriction modifier
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Is a True Genetic disease Inferred relationship Existential restriction modifier
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Is a True Genetic disease Inferred relationship Existential restriction modifier
Syndactyly, polydactyly, ear lobe syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Is a False Genetic disease Inferred relationship Existential restriction modifier
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Myopathy and diabetes mellitus Is a True Genetic disease Inferred relationship Existential restriction modifier
Familial temporal lobe epilepsy Is a True Genetic disease Inferred relationship Existential restriction modifier
Combined immunodeficiency with granulomatosis Is a True Genetic disease Inferred relationship Existential restriction modifier
Conductive hearing loss, malformation of external ear syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Hirschsprung disease, ganglioneuroblastoma syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Heart defect, tongue hamartoma, polysyndactyly syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Taurodontism Is a True Genetic disease Inferred relationship Existential restriction modifier
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E Is a False Genetic disease Inferred relationship Existential restriction modifier
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A Is a False Genetic disease Inferred relationship Existential restriction modifier
Genetic defect of hair shaft Is a True Genetic disease Inferred relationship Existential restriction modifier
Solid neoplasm with neurotrophic receptor tyrosine kinase gene fusion Is a True Genetic disease Inferred relationship Existential restriction modifier
Genetic disorder of nail Is a True Genetic disease Inferred relationship Existential restriction modifier
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Is a True Genetic disease Inferred relationship Existential restriction modifier
21q22.11q22.12 microdeletion syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Pineal hyperplasia AND diabetes mellitus syndrome Associated with True Genetic disease Inferred relationship Existential restriction modifier 2
Myopathy and diabetes mellitus Associated with True Genetic disease Inferred relationship Existential restriction modifier 3
Diabetes-deafness syndrome maternally transmitted Associated with True Genetic disease Inferred relationship Existential restriction modifier 1
Diabetes mellitus associated with genetic syndrome Associated with True Genetic disease Inferred relationship Existential restriction modifier 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Due to False Genetic disease Inferred relationship Existential restriction modifier 3
Wolfram-like syndrome Due to True Genetic disease Inferred relationship Existential restriction modifier 4
Hyperproinsulinemia Associated with False Genetic disease Inferred relationship Existential restriction modifier 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome Associated with False Genetic disease Inferred relationship Existential restriction modifier 1
Diabetes mellitus AND insipidus with optic atrophy AND deafness Associated with True Genetic disease Inferred relationship Existential restriction modifier 3
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Due to False Genetic disease Inferred relationship Existential restriction modifier 4
Impaired glucose tolerance associated with genetic syndrome Associated with True Genetic disease Inferred relationship Existential restriction modifier 1
Hemolytic uremic syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Boomerang dysplasia Is a True Genetic disease Inferred relationship Existential restriction modifier
Osteoglophonic dysplasia Is a True Genetic disease Inferred relationship Existential restriction modifier
Winchester syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Congenital wooly hair Is a True Genetic disease Inferred relationship Existential restriction modifier
Williams syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Maffucci syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Klippel-Feil sequence Is a True Genetic disease Inferred relationship Existential restriction modifier
Angelman syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Lissencephaly co-occurrent with congenital cerebellar hypoplasia Is a True Genetic disease Inferred relationship Existential restriction modifier
Prader-Willi syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Hallermann-Streiff syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Focal facial dermal dysplasia Is a True Genetic disease Inferred relationship Existential restriction modifier
Trinucleotide repeat disorder Is a True Genetic disease Inferred relationship Existential restriction modifier
Diabetes, hypogonadism, deafness, intellectual disability syndrome Associated with True Genetic disease Inferred relationship Existential restriction modifier 4
Blau syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Generalized glucocorticoid resistance syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Male infertility of genetic origin Is a True Genetic disease Inferred relationship Existential restriction modifier
Cogan-Reese syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Genetic lipodystrophy Is a True Genetic disease Inferred relationship Existential restriction modifier
Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation Is a True Genetic disease Inferred relationship Existential restriction modifier
Familial hematuria Is a True Genetic disease Inferred relationship Existential restriction modifier
Isolated familial renal hypomagnesemia Is a True Genetic disease Inferred relationship Existential restriction modifier
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Associated with True Genetic disease Inferred relationship Existential restriction modifier 7
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Associated with True Genetic disease Inferred relationship Existential restriction modifier 7
Amyotrophic lateral sclerosis, parkinsonism, dementia complex Is a True Genetic disease Inferred relationship Existential restriction modifier
Barber-Say syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Postlingual non-syndromic genetic deafness Is a False Genetic disease Inferred relationship Existential restriction modifier
Prelingual non-syndromic genetic deafness Is a False Genetic disease Inferred relationship Existential restriction modifier
Generalized pustular psoriasis Is a True Genetic disease Inferred relationship Existential restriction modifier
Cerebro-costo-mandibular syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Familial multiple lipomata Is a True Genetic disease Inferred relationship Existential restriction modifier
Short rib dysplasia Is a True Genetic disease Inferred relationship Existential restriction modifier
Thin ribs, tubular bones, dysmorphism syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Humeroradioulnar synostosis Is a True Genetic disease Inferred relationship Existential restriction modifier
Familial lambdoid synostosis Is a False Genetic disease Inferred relationship Existential restriction modifier
Capra DeMarco syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Solitary median maxillary central incisor syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Acrocephalosyndactyly Is a True Genetic disease Inferred relationship Existential restriction modifier
Cloverleaf skull syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Familial isolated clinodactyly of finger Is a True Genetic disease Inferred relationship Existential restriction modifier
Emery-Dreifuss muscular dystrophy Is a False Genetic disease Inferred relationship Existential restriction modifier
Primary tethered cord syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Adenocarcinoma of pancreas with neuregulin 1 gene fusion Is a True Genetic disease Inferred relationship Existential restriction modifier
Non-small cell lung carcinoma with neuregulin 1 gene fusion Is a True Genetic disease Inferred relationship Existential restriction modifier
Muscular dystrophy Is a True Genetic disease Inferred relationship Existential restriction modifier
Malignant neoplasm of esophagus with neuregulin 1 gene fusion Is a True Genetic disease Inferred relationship Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Is a True Genetic disease Inferred relationship Existential restriction modifier
Female infertility due to genetic disease Due to True Genetic disease Inferred relationship Existential restriction modifier 3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Cole-Carpenter dysplasia Is a True Genetic disease Inferred relationship Existential restriction modifier
Progressive supranuclear palsy Is a True Genetic disease Inferred relationship Existential restriction modifier
Chronic diarrhea with villous atrophy syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 1 Is a False Genetic disease Inferred relationship Existential restriction modifier
Non syndromic camptodactyly of fingers Is a True Genetic disease Inferred relationship Existential restriction modifier
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Low density lipoprotein receptor-related protein 5 related primary osteoporosis Is a True Genetic disease Inferred relationship Existential restriction modifier
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Camptodactyly syndrome Guadalajara type 3 Is a True Genetic disease Inferred relationship Existential restriction modifier
Lethal hydranencephaly, diaphragmatic hernia syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Maturity-onset diabetes of the young Is a True Genetic disease Inferred relationship Existential restriction modifier
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Kosaki overgrowth syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier
Congenital generalized hypercontractile muscle stiffness syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier

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