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11164009: Autosomal dominant hereditary disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
195344010 Autosomal dominant hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2618831016 AD - Autosomal dominant en Synonym Active Entire term case sensitive SNOMED CT core module

1150 descendants. Search Descendants:

Expanded Value Set

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

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This concept is not in any reference sets

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