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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Aneurysm osteoarthritis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial isolated hyperparathyroidism Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to MED13L deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Muenke syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary mixed polyposis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Huntington's chorea Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial porphyria cutanea tarda Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial benign pemphigus Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Osler haemorrhagic telangiectasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Nail-patella syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Juvenile epithelial corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Axenfeld anomaly Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dysplasia epiphysealis hemimelica 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 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary neurocutaneous angiomata Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brugada syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Meretoja syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Carpotarsal osteochondromatosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant pseudoxanthoma elasticum 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
Blepharophimosis-intellectual disability syndrome, SBBYS type 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Alexander's disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Distichiasis-lymphoedema syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome 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 False 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 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 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 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 angioedema - type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary angioedema - type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial cold urticaria Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary lymphoedema and yellow nails Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary lymphoedema type I Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary lymphoedema type II 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary sensory autonomic neuropathy type IC 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 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 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 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Coralliform cataract Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type D Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A3 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 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Emery-Dreifuss muscular dystrophy 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 anaemia 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 hypokalaemic 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 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

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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