limb-girdle muscular dystrophy, type 2C

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

MeSH synonym : duchenne-like muscular dystrophy, autosomal recessive, type 1; gamma-sarcoglycanopathy; severe childhood autosomal recessive muscular dystrophy, north african type; maghrebian myopathy; muscular dystrophy, duchenne-like; adhalin deficiency, secondary; limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; muscular dystrophy, Limb-Girdle, type 2C; LGMD2C; SCARMD;

Details

Origin ID

C535900;

UMLS CUI

C0410173;

CISMeF manual mappings
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2C (disorder) [SNOMED CT concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 5 [OMIM Phenotype]
- Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) [SNOMED CT concept]
- autosomal recessive limb-girdle muscular dystrophy type 2C [DO Concept]
- limb girdle muscular dystrophy type 2c [Disease (Nov.)]
MeSH term(s) associated for indexing
- sarcoglycanopathies [MeSH Descriptor]
Record concept(s)
- Limb-girdle muscular dystrophy, type 2C [MeSH concept]
See also (suggested by CISMeF)
- gamma-Sarcoglycan [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 [ORDO Disease]
- Muscular dystrophy, limb-girdle, autosomal recessive 5 [OMIM Phenotype]
- Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) [SNOMED CT concept]

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