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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
19337016 Dominant hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
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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