limb-girdle muscular dystrophy type 2F

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

MeSH synonym : muscular dystrophy limb-girdle with delta-sarcoglyan deficiency; muscular dystrophy, Limb-Girdle, type 2F; LGMD2F;

Details

Origin ID

C535896;

UMLS CUI

C1832525;

CISMeF manual mappings
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) [SNOMED CT concept]
- autosomal recessive limb-girdle muscular dystrophy type 2F [DO Concept]
Manual NTBT mappings (CISMeF)
- limb girdle muscular dystrophy type 2 [Disease (Nov.)]
MeSH term(s) associated for indexing
- sarcoglycanopathies [MeSH Descriptor]
ORDO relation(s)
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 [ORDO Disease]
Record concept(s)
- Limb-girdle muscular dystrophy type 2F [MeSH concept]
See also (suggested by CISMeF)
- delta-Sarcoglycan [MeSH concept]
- sarcoglycans [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2F (disorder) [SNOMED CT concept]
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 [ORDO Disease]
- Muscular dystrophy, limb-girdle, autosomal recessive 6 [OMIM Phenotype]

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