782964007: Genetic disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease

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

Descriptions:

Id Description Lang Type Status Case? Module

3756960017 Genetic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756961018 Genetic disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4359531000052110 genetisk sjukdom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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
DNA 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 (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Syndactyly, polydactyly, ear lobe syndrome (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)	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 (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Familial temporal lobe epilepsy (disorder)	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 (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Taurodontism	Is a	True	Genetic disease	Inferred relationship	Some
Lissencephaly with cerebellar hypoplasia type E	Is a	False	Genetic disease	Inferred relationship	Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A (disorder)	Is a	False	Genetic disease	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	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 (disorder)	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 (disorder)	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 (disorder)	Due to	False	Genetic disease	Inferred relationship	Some	3
Wolfram-like syndrome (disorder)	Due to	True	Genetic disease	Inferred relationship	Some	4
Hyperproinsulinaemia	Associated with	False	Genetic disease	Inferred relationship	Some	1
insulinberoende diabetes mellitus, sekretoriskt diarrésyndrom	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 (disorder)	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
Hemolytic uremic 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 wooly hair (disorder)	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 co-occurrent with congenital cerebellar hypoplasia (disorder)	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 (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Trinucleotide repeat disorder (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
Generalized glucocorticoid resistance syndrome (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Male infertility of genetic origin	Is a	True	Genetic disease	Inferred relationship	Some
Cogan-Reese syndrome (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Genetic lipodystrophy (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Familial hematuria (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Isolated familial renal hypomagnesemia	Is a	True	Genetic disease	Inferred relationship	Some
Megaloblastic anemia, 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 (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Postlingual non-syndromic genetic deafness	Is a	True	Genetic disease	Inferred relationship	Some
Prelingual non-syndromic genetic deafness (disorder)	Is a	True	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 (disorder)	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	True	Genetic disease	Inferred relationship	Some
Capra DeMarco syndrome (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	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 (disorder)	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 neuregulin 1 gene fusion (disorder)	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 tumor of esophagus with NRG1 fusion	Is a	True	Genetic disease	Inferred relationship	Some
Hadziselimovic syndrome	Is a	True	Genetic disease	Inferred relationship	Some
Female infertility due to genetic disease (disorder)	Due to	True	Genetic disease	Inferred relationship	Some	3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Cole-Carpenter dysplasia (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Progressive supranuclear palsy	Is a	True	Genetic disease	Inferred relationship	Some
Chronic diarrhea with villous atrophy syndrome (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Oro-facial digital syndrome type 1 (disorder)	Is a	False	Genetic disease	Inferred relationship	Some
Non syndromic camptodactyly of fingers (disorder)	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 (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder)	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 (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Maturity-onset diabetes of the young (disorder)	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 (disorder)	Is a	True	Genetic disease	Inferred relationship	Some
Congenital generalized hypercontractile muscle stiffness syndrome	Is a	True	Genetic disease	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
3756960017	Genetic disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756961018	Genetic disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4359531000052110	genetisk sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)