myopathy, myosin storage

Preferred Label : myopathy, myosin storage;

MeSH note : mutation in MYH7;

MeSH synonym : myopathy, hyaline body, autosomal dominant;

Origin ID

C564253;

UMLS CUI

C1842160;

Automatic exact mappings (from CISMeF team)
- autosomal dominant hyaline body myopathy [DO Concept]
- hyaline body myopathy [DO Concept]
Currated CISMeF NLP mapping
- Myosin storage myopathy [ORDO Disease]
- Myosin storage myopathy (disorder) [SNOMED CT concept]
- myosin storage myopathy [Disease (Nov.)]
MeSH term(s) associated for indexing
- muscular diseases [MeSH Descriptor]
ORDO relation(s)
- Myosin storage myopathy [ORDO Disease]
Record concept(s)
- myopathy, myosin storage [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myopathy 7a, myosin storage, autosomal dominant [OMIM Phenotype]
- Myosin storage myopathy (disorder) [SNOMED CT concept]
- myosin storage myopathy [Disease (Nov.)]
Validated automatic mappings to BTNT
- Congenital myopathy 7a, myosin storage, autosomal dominant [OMIM Phenotype]