neuromuscular disease, congenital, with uniform type 1 fiber

Preferred Label : neuromuscular disease, congenital, with uniform type 1 fiber;

MeSH note : PROM;

MeSH synonym : CNMDU1;

Origin ID

C567162;

UMLS CUI

C2674259;

Automatic exact mappings (from CISMeF team)
- Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia [OMIM Phenotype]
Currated CISMeF NLP mapping
- Congenital neuromuscular disorder with uniform type 1 fibre [ICD-11 More detail]
MeSH term(s) associated for indexing
- myopathy, central core [MeSH Descriptor]
Record concept(s)
- neuromuscular disease, congenital, with uniform type 1 fiber [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital neuromuscular disorder with uniform type 1 fibre [ICD-11 More detail]