vacuolar myopathy

Preferred Label : vacuolar myopathy;

MeSH synonym : autophagic vacuolar myopathy; myopathy, autophagic vacuolar, Infantile-Onset;

Origin ID

C536522;

UMLS CUI

C2931230;

Currated CISMeF NLP mapping
- Myopathy, X-linked, with excessive autophagy [OMIM Phenotype]
- X-linked myopathy with excessive autophagy [ORDO Disease]
- X-linked myopathy with excessive autophagy (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- lysosomal storage diseases [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
Record concept(s)
- Vacuolar myopathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myopathy, autophagic vacuolar, infantile-onset [OMIM Phenotype]
Validated automatic mappings to BTNT
- Myopathy, autophagic vacuolar, infantile-onset [OMIM Phenotype]