Hyaline body myopathy

Preferred Label : Hyaline body myopathy;

ICD-11 definition : Hyaline body myopathy is a rare congenital myopathy that manifests with subsarcolemmal hyalinized bodies in type 1 fibers. Ultrastructurally, hyalinized bodies in muscle biopsy samples appear to consist of fine filamentous or granular material and not to have a surrounding membrane. The neighbouring myofibrils were normal, with no sign of degeneration. The clinical findings are diverse, with either scapulo-peroneal weakness or limb girdle weakness. The age of onset in the patients reported varied from early childhood to the fifth decade of life.;

ICD-11 synonym : Myopathy with lysis of type 1 myofibrils;

Details

Origin ID

352828432;

UMLS CUI

C1850709;

Automatic exact mappings (from CISMeF team)
- hyaline body myopathy [DO Concept]
Currated CISMeF NLP mapping
- Congenital myopathy 7b, myosin storage, autosomal recessive [OMIM Phenotype]
- Myosin storage myopathy [ORDO Disease]
- myopathy, hyaline body, autosomal recessive [MeSH Supplementary Concept]
- myopathy, hyaline body, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myopathy 7b, myosin storage, autosomal recessive [OMIM Phenotype]
- Myosin storage myopathy [ORDO Disease]
- myopathy, hyaline body, autosomal recessive [MeSH concept]
- myopathy, hyaline body, autosomal recessive [MeSH Supplementary Concept]

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