limb-girdle muscular dystrophy, type 2B

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

MeSH synonym : muscular dystrophy, limb-girdle, type 3; LGMD3; LGMD2B; muscular dystrophy, Limb-Girdle, type 2B;

Details

Origin ID

C535899;

UMLS CUI

C1850889;

CISMeF manual mappings
- Dysferlin-related limb-girdle muscular dystrophy R2 [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) [SNOMED CT concept]
- Limb-Girdle Muscular Dystrophy Type 2B [NCIt concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 2 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2B [DO Concept]
- limb girdle muscular dystrophy type 2b [Disease (Nov.)]
MeSH term(s) associated for indexing
- muscular dystrophies, limb-girdle [MeSH Descriptor]
Record concept(s)
- Limb-girdle muscular dystrophy, type 2B [MeSH concept]
See also (suggested by CISMeF)
- DYSF protein, human [MeSH Supplementary Concept]
- dysferlinopathy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2B (disorder) [SNOMED CT concept]
- Dysferlin-related limb-girdle muscular dystrophy R2 [ORDO Disease]
- Limb-Girdle Muscular Dystrophy Type 2B [NCIt concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 2 [OMIM Phenotype]

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