limb-girdle muscular dystrophy, type 2E

Preferred Label : limb-girdle muscular dystrophy, type 2E;

MeSH synonym : muscular dystrophy limb-girdle with beta-sarcoglycan deficiency; beta-sarcoglycan limb-girdle muscular dystrophy; LGMD2E; muscular dystrophy, Limb-Girdle, type 2E;

Details

Origin ID

C535902;

UMLS CUI

C1858593;

CISMeF manual mappings
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal Recessive Limb-Girdle Muscular Dystrophy-4 [NCIt concept]
- Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) [SNOMED CT concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 4 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2E [DO Concept]
Manual NTBT mappings (CISMeF)
- limb girdle muscular dystrophy type 2 [Disease (Nov.)]
MeSH term(s) associated for indexing
- sarcoglycanopathies [MeSH Descriptor]
Record concept(s)
- Limb-girdle muscular dystrophy, type 2E [MeSH concept]
See also (suggested by CISMeF)
- beta-Sarcoglycan [MeSH concept]
- beta-sarcoglycanopathy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Limb-Girdle Muscular Dystrophy-4 [NCIt concept]
- Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) [SNOMED CT concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 4 [OMIM Phenotype]

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