muscular dystrophy, Limb-Girdle, type 2M

Preferred Label : muscular dystrophy, Limb-Girdle, type 2M;

MeSH note : mutation in FKTN;

MeSH synonym : LGMD2M;

Origin ID

C566912;

UMLS CUI

C1969040;

Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) [SNOMED CT concept]
- Fukutin-related limb-girdle muscular dystrophy R13 [ORDO Disease]
- Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation [ICD-11 More detail]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2M [DO Concept]
MeSH term(s) associated for indexing
- muscular dystrophies, limb-girdle [MeSH Descriptor]
Record concept(s)
- muscular dystrophy, Limb-Girdle, type 2M [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2M (disorder) [SNOMED CT concept]
- Fukutin-related limb-girdle muscular dystrophy R13 [ORDO Disease]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 [OMIM Phenotype]