muscular dystrophy, congenital, Lmna-Related

Preferred Label : muscular dystrophy, congenital, Lmna-Related;

MeSH note : mutations in LMNA;

MeSH synonym : mdcl;

Origin ID

C567708;

UMLS CUI

C2750785;

Currated CISMeF NLP mapping
- Congenital muscular dystrophy due to LMNA mutation [ORDO Disease]
- Congenital muscular dystrophy due to lamin A/C mutation (disorder) [SNOMED CT concept]
- LMNA related congenital muscular dystrophy [Disease (Nov.)]
- Muscular Dystrophy Congenital, LMNA-Related [NCIt concept]
- Muscular dystrophy, congenital, lmna-related [OMIM Phenotype]
- congenital muscular dystrophy due to LMNA mutation [DO Concept]
MeSH term(s) associated for indexing
- lamin type a [MeSH Descriptor]
- muscular dystrophies [MeSH Descriptor]
Record concept(s)
- muscular dystrophy, congenital, Lmna-Related [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy due to LMNA mutation [ORDO Disease]
- Congenital muscular dystrophy due to lamin A/C mutation (disorder) [SNOMED CT concept]
- LMNA related congenital muscular dystrophy [Disease (Nov.)]
- Muscular Dystrophy Congenital, LMNA-Related [NCIt concept]
- Muscular dystrophy, congenital, lmna-related [OMIM Phenotype]
- congenital muscular dystrophy due to LMNA mutation [DO Concept]