Moderate multi-minicore disease with hand involvement

Preferred Label : Moderate multi-minicore disease with hand involvement;

ICD-11 definition : Congenital myopathy characterized by the presence in most muscle fibers of multiple minicores, which are poorly circumscribed, segmentary lesions spreading only a few sarcomeres along the fiber longitudinal axis and affecting both type 1 and type 2 fibers. The moderate form with hand involvement consists of generalized muscle weakness predominating in the pelvic girdle and including hand weakness, amyotrophy, and hyperlaxity; scoliosis and respiratory involvement are mild or absent.;

Details

Origin ID

1297824145;

UMLS CUI

C1861751;

Automatic exact mappings (from CISMeF team)
- Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia [OMIM Phenotype]
Currated CISMeF NLP mapping
- Moderate multiminicore disease with hand involvement [ORDO Disease]
- minicore myopathy, moderate, with hand involvement [MeSH Supplementary Concept]
- multiminicore disease, moderate, with hand involvement [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- minicore myopathy, moderate, with hand involvement [MeSH concept]
- minicore myopathy, moderate, with hand involvement [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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