Scapuloperoneal muscular dystrophy

ICD-11 code : 8C70.5;

Preferred Label : Scapuloperoneal muscular dystrophy;

ICD-11 definition : Scapuloperoneal muscular dystrophies are a group of genetically heterogeneous myopathies characterized by progressive weakness and wasting of scapular and anterior leg muscles. Emery-Dreifuss muscular dystrophy is a classic scapuloperoneal muscular dystrophy associated with early contractures and cardiac arrhythmia, but other muscle disorders can also present with a scapuloperoneal phenotype.;

ICD-11 inclusion : scapuloperoneal dystrophy; scapuloperoneal syndrome; benign scapuloperoneal muscular dystrophy with early contractures;

Détails

Origin ID

1224331149;

UMLS CUI

C0026850;

Automatic exact mappings (from CISMeF team)
- Scapuloperoneal muscular dystrophy (disorder) [SNOMED CT concept]
- Scapuloperoneal myopathy, myh7-related [OMIM Phenotype]
- muscular dystrophy, emery-dreifuss [MeSH Descriptor]
Currated CISMeF NLP mapping
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy (disorder) [SNOMED CT concept]
ICD-10 Mapping
- Muscular dystrophy [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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