11164009: Autosomal dominant hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hereditary disorder	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dysplasia epiphysealis hemimelica (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Metachondromatosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital contractural arachnodactyly	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dominant drusen	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Axial osteosclerosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Marie Unna syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mullerian aplasia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Acrokeratosis verruciformis of Hopf (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary neurocutaneous angiomata (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brugada syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
familjär amyloid polyneuropati typ 5	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Carpotarsal osteochondromatosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant pseudoxanthoma elasticum (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Larsen syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Asymmetric crying face association	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hidrotic ectodermal dysplasia syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Roussy-Lévy syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Granular corneal dystrophy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Marshall-Smith syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Best vitelliform macular dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Alexander's disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distichiasis-lymphedema syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Focal facial dermal dysplasia type I	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Focal facial dermal dysplasia type II	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple fibrofolliculomas	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Fibronectin glomerulopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Trichorhinophalangeal syndrome type 1 and 3	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant progressive external ophthalmoplegia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary camptodactyly	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Albinism-deafness syndrome of Tietz (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Emberger syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Myhre syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dentinogenesis imperfecta - Shield's type II	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
von Willebrand disease type 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary von Willebrand disease type 2B	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary von Willebrand disease type 2M	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Childhood-onset autosomal dominant optic atrophy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial cold urticaria	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary lymphedema and yellow nails (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary lymphedema type I (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary lymphedema type II (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary sensory autonomic neuropathy type ID	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary sensory autonomic neuropathy type IE	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary sensory autonomic neuropathy type IA (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary sensory autonomic neuropathy type IC (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Achondroplasia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple endocrine neoplasia type 2A (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hypodontia and nail dysgenesis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Epidermolytic palmoplantar keratoderma of Vorner	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Howel-Evans' syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Kniest dysplasia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Progressive palmoplantar keratoderma of Greither	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant polycystic liver disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Robinow syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial cutaneous collagenoma	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Juvenile polyposis syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Coralliform cataract (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brachydactyly type D (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Brachydactyly type A3 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Crouzon syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial spinal neurofibromatosis	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Genochondromatosis type 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Stickler syndrome type 1	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Stickler syndrome type 2	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dentinogenesis imperfecta	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dentin dysplasia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant sideroblastic anemia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Polymorphous corneal dystrophy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Aase syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial hypokalemic periodic paralysis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Choroid plexus carcinoma	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hyperproinsulinaemia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant distal hereditary motor neuropathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant cerebellar ataxia type 2	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mutilating keratoderma	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Overhydrated hereditary stomatocytosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Southeast Asian ovalocytosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dehydrated hereditary stomatocytosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial pseudohyperkalemia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary leiomyomatosis and renal cell carcinoma (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial calcium pyrophosphate dihydrate crystal deposition disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Symphalangism Cushing type	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial porencephaly (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
195344010	Autosomal dominant hereditary disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
632967019	Autosomal dominant hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2618831016	AD - Autosomal dominant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2598921000052112	autosomalt dominant ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)