limb-girdle muscular dystrophy type 2A

Preferred Label : limb-girdle muscular dystrophy type 2A;

MeSH synonym : Leyden-Moebius muscular dystrophy; muscular dystrophy, pelvofemoral; calpainopathy; limb-girdle muscular dystrophy type 2; muscular dystrophy, Limb-Girdle, type 2; muscular dystrophy, Limb-Girdle, type 2A; LGMD2; LGMD2A;

Details

Origin ID

C535895;

UMLS CUI

C1869123;

Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) [SNOMED CT concept]
- Calpain-3-related limb-girdle muscular dystrophy R1 [ORDO Disease]
- Limb-Girdle Muscular Dystrophy Type 2A [NCIt concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 1 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2A [DO Concept]
- limb girdle muscular dystrophy type 2a [Disease (Nov.)]
MeSH term(s) associated for indexing
- muscular dystrophies, limb-girdle [MeSH Descriptor]
Record concept(s)
- Limb-girdle muscular dystrophy type 2A [MeSH concept]
- Myositis, Eosinophilic [MeSH concept]
See also (suggested by CISMeF)
- CAPN3 protein, human [MeSH Supplementary Concept]
- calpain [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) [SNOMED CT concept]
- Calpain-3-related limb-girdle muscular dystrophy R1 [ORDO Disease]
- Limb-Girdle Muscular Dystrophy Type 2A [NCIt concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 1 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2A [DO Concept]
- limb girdle muscular dystrophy type 2a [Disease (Nov.)]
Validated automatic mappings to NTBT
- limb girdle muscular dystrophy type 2 [Disease (Nov.)]

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