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4720007: Dystrophy (morphologic abnormality)

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
784632017 Dystrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
8873011 Dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dystrophy (morphologic abnormality) est un(e) (attribut) Degenerative abnormality true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant muscular dystrophy with gene located at 5q31 morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Late onset proximal muscular dystrophy with dysarthria morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Muscular dystrophy not predominantly limb girdle in distribution morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
X-linked muscular dystrophy not predominantly limb girdle morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy with cardiomyopathy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive muscular dystrophy not predominantly limb girdle morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Scapulohumeral muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant muscular dystrophy not predominantly limb girdle morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie musculaire scapulofibulaire grave avec cardiomyopathie morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Benign congenital muscular dystrophy with finger flexion contractures morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Distal muscular dystrophy with adult onset morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Muscular dystrophy-deafmutism syndrome morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital hereditary muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Fukuyama congenital muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Merosin deficient congenital muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie musculaire congénitale de Walker-Warburg morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
Muscle-eye-brain disease, congenital muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Distal muscular dystrophy, Miyoshi type morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie musculaire d'Emery-Dreifuss morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Severe childhood autosomal recessive muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie musculaire distale morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Ocular muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Oculopharyngeal muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Erb's muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Limb-girdle muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Benign congenital myopathy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hereditary progressive muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelvic muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
syndrome de dystrophie musculaire ménopausique morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Scapuloperoneal muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital hereditary muscular dystrophy NOS morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Other limb girdle muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hereditary progressive muscular dystrophy NOS morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Other specified hereditary progressive muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Becker muscular dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Facioscapulohumeral muscular dystrophy (disorder) morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
chondrodystrophie malacique morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Schultz disease morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Neuroaxonal leukodystrophy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Type III transitional Pelizaeus-Merzbacher disease morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Type IV adult Pelizaeus-Merzbacher disease morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Type V atypical Pelizaeus-Merzbacher disease morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Type VI Cockayne Pelizaeus-Merzbacher disease morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Leucodystrophy without a known biochemical basis morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Cogan-Reese syndrome (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Meesman's corneal dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Microscopic cystic corneal dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Globoid cell leucodystrophy, late-onset morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Dalmatian leukodystrophy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Pelizaeus-Merzbacher disease, connatal variant (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelizaeus-Merzbacher disease morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Alexander's disease morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Pelizaeus-Merzbacher disease, classic form morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Leukodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Leucodystrophy NOS morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
chondrodystrophie malacique morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
chondrodystrophie malacique morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 3
HSMN IV morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital hereditary endothelial dystrophy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital hereditary endothelial dystrophy type 1 (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie endothéliale congénitale héréditaire type II morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Fleck corneal dystrophy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
à l'examen : syndrome de Claude Bernard-Horner morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Oculopharyngeal muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelizaeus-Merzbacher disease morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelizaeus-Merzbacher disease, connatal variant (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie cornéenne de Thiel-Behnke morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Leucodystrophy NOS morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Acquired generalized lipodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Leucodystrophy without a known biochemical basis morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Scapuloperoneal muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Primary hair dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Schnyder crystalline cornea dystrophy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Muscular dystrophy with predominantly proximal limb girdle distribution morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Acquired partial lipodystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Severe childhood autosomal recessive muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Lattice corneal dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
HSMN IV morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Steinert myotonic dystrophy syndrome morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pelvic muscular dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Squamous cell hyperplasia of vulva morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Crocodile shagreen of cornea morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Hereditary progressive muscular dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Reis-Bucklers' corneal dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Corneal dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Lattice corneal dystrophy Type I (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Benign congenital myopathy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Congenital generalised lipodystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Dystrophy of anterior cornea (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Pre-descemet's corneal dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Lipodystrophy associated with Human immunodeficiency virus infection (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
algodystrophie morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
dystrophie du système pileux morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
syndrome de dystrophie musculaire ménopausique morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1
Fuchs' corneal dystrophy morphologie associée (attribut) True Dystrophy (morphologic abnormality) Inferred relationship Some 1
Neuroaxonal leukodystrophy (disorder) morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 2
Combined corneal dystrophy morphologie associée (attribut) False Dystrophy (morphologic abnormality) Inferred relationship Some 1

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