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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
Spinocerebellar ataxia type 38 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Wolfram-like syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hereditary spastic paraplegia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Floating-Harbour syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome rein-colobome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant tubulointerstitial disease (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
kératose folliculaire de Darier est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial dyskeratotic comedones est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital benign spinal muscular atrophy est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Cleft palate, large ears, small head syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dyskinésie familiale avec myokymie faciale est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial progressive hyper and hypopigmentation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 37 (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Hot water reflex epilepsy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Velofacioskeletal syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spastic ataxia with congenital miosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hyperprolactinemia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial vesicoureteral reflux (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Finnish upper limb onset distal myopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
adermatoglyphie congénitale isolée est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dislocation of hip and facial dysmorphism syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Erythema palmare hereditarium est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial cortical myoclonus est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
KLHL9-related early-onset distal myopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital hereditary endothelial dystrophy type 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Handigodu type est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ankyrin-B syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial focal epilepsy with variable foci est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Branchiootic syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant slowed nerve conduction velocity est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
myopathie distale précoce type Laing est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital myopathy with internal nuclei and atypical cores (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
King Denborough syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Striate palmoplantar keratoderma (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Focal palmoplantar and gingival keratoderma est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial thoracic aortic aneurysm and aortic dissection est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Muscle filaminopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
BAP1 tumor predisposition syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Spheroid body myopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Punctate palmoplantar keratoderma type 2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multiple benign meningioma (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant polycystic kidney disease (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Metabolic myopathy due to lactate transporter defect est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dysplasie épiphysaire multiple due à une anomalie du collagène 9 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Trichodysplasia xeroderma syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dysplasie spondylo-épimétaphysaire avec luxations multiples est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Generalized basaloid follicular hamartoma syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome radio-rénal est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multicentric carpotarsal osteolysis syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Moebius syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary benign acanthosis nigricans est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial generalised lentiginosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Centrofacial lentiginosis syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ataxia pancytopenia syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary hollow viscus myopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Late-onset distal myopathy Markesbery Griggs type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial bicuspid aortic valve (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Desmin-related myofibrillar myopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Retinal macular dystrophy type 2 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type B2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Distal hereditary motor neuropathy type 1 (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Choanal atresia with radial ray hypoplasia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Benign familial mesial temporal lobe epilepsy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Occult macular dystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
myopathie à corps d'inclusion héréditaire type 4 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Adult-onset distal myopathy due to valosin containing protein mutation (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
2p13.2 microdeletion syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Distal myopathy Welander type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
11p15.4 microduplication syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
3q27.3 microdeletion syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital Horner syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hypertrichosis cubiti (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Tetramelic monodactyly est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
neuropathie motrice distale héréditaire type 7 est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary motor and sensory neuropathy type 5 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dentin dysplasia with sclerotic bone syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant severe congenital neutropaenia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Postaxial tetramelic oligodactyly est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some

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