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11164009: Autosomal dominant hereditary disorder (disorder)


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

Descriptions:

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
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (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


1135 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial isolated hyperparathyroidism (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Muenke syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary mixed polyposis syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
maladie de Huntington est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
porphyrie cutanée tardive familiale (trouble) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
pemphigus bénin familial est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
maladie de Rendu-Osler est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Nail-patella syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Meesman's corneal dystrophy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Axenfeld anomaly est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dysplasia epiphysealis hemimelica est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Metachondromatosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
arachnodactylie congénitale avec contractures est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dominant drusen est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Axial osteosclerosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Marie Unna syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mullerian aplasia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Acrokeratosis verruciformis of Hopf (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brugada syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Meretoja syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Carpotarsal osteochondromatosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant pseudoxanthoma elasticum (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Larsen syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Asymmetric crying face association (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hidrotic ectodermal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de Roussy-Lévy (trouble) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Granular corneal dystrophy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Marshall-Smith syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Best vitelliform macular dystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Alexander's disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Distichiasis-lymphedema syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Focal facial dermal dysplasia type I est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Focal facial dermal dysplasia type II est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple fibrofolliculomas est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Tuberous sclerosis syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Fibronectin glomerulopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Trichorhinophalangeal syndrome type 1 and 3 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant progressive external ophthalmoplegia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary camptodactyly est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Albinism-deafness syndrome of Tietz (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Emberger syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Myhre syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
pseudohypoparathyroïdie type 1A (trouble) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
myoclonie photo-induite, diabète sucré, surdité, néphropathie et dysfonctionnement cérébral est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta - Shield's type II est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
von Willebrand disease type 1 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary von Willebrand disease type 2B est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary von Willebrand disease type 2M est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Childhood-onset autosomal dominant optic atrophy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary C1 esterase inhibitor deficiency - deficient factor est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial cold urticaria est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
lymphœdème héréditaire et ongles jaunes (trouble) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary lymphedema type I (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary lymphedema type II (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary sensory autonomic neuropathy type ID est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary sensory autonomic neuropathy type IE est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary sensory autonomic neuropathy type IA (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary sensory autonomic neuropathy type IC (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Achondroplasia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple endocrine neoplasia type 2A (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hypodontia and nail dysgenesis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Osteogenesis imperfecta type I (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Epidermolytic palmoplantar keratoderma of Vorner est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Howel-Evans' syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dysplasie de Kniest (trouble) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
17q23.1-q23.2 duplication syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive palmoplantar keratoderma of Greither est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant polycystic liver disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Robinow syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial cutaneous collagenoma est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Juvenile polyposis syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Coralliform cataract (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type D (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A3 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Crouzon syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Distal arthrogryposis type 3 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Saethre-Chotzen syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial spinal neurofibromatosis est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Genochondromatosis type 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Stickler syndrome type 1 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Stickler syndrome type 2 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Steinert myotonic dystrophy syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dysplasie de la dentine est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant sideroblastic anemia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Posterior polymorphous corneal dystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Aase syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hypokalemic periodic paralysis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Choroid plexus carcinoma est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperproinsulinaemia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant distal hereditary motor neuropathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some

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