muscular dystrophy, congenital, due to integrin Alpha-7 deficiency

Preferred Label : muscular dystrophy, congenital, due to integrin Alpha-7 deficiency;

MeSH note : mutations in ITGA7;

MeSH synonym : myopathy, congenital, due to integrin Alpha-7 deficiency;

Details

Origin ID

C567709;

UMLS CUI

C2750786;

CISMeF manual mappings
- Congenital muscular dystrophy with integrin alpha-7 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) [SNOMED CT concept]
- Muscular dystrophy, congenital, due to integrin alpha-7 deficiency [OMIM Phenotype]
- congenital muscular dystrophy due to integrin alpha-7 deficiency [DO Concept]
MeSH term(s) associated for indexing
- muscular dystrophies [MeSH Descriptor]
Record concept(s)
- muscular dystrophy, congenital, due to integrin Alpha-7 deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy with integrin alpha-7 deficiency [ORDO Disease]
- Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) [SNOMED CT concept]
- Muscular dystrophy, congenital, due to integrin alpha-7 deficiency [OMIM Phenotype]
- congenital muscular dystrophy due to integrin alpha-7 deficiency [DO Concept]

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