filaminopathy, autosomal dominant

Preferred Label : filaminopathy, autosomal dominant;

MeSH synonym : myofibrillar myopathy, filamin C-related; filamin C-related myofibrillar myopathy; myopathy, myofibrillar, filamin C-Related; mfm, filamin C-Related;

Details

Origin ID

C537932;

UMLS CUI

C1836050;

Currated CISMeF NLP mapping
- Muscle filaminopathy [ORDO Disease]
- Muscle filaminopathy (disorder) [SNOMED CT concept]
- Myopathy, myofibrillar, 5 [OMIM Phenotype]
- myofibrillar myopathy 5 [DO Concept]
MeSH term(s) associated for indexing
- muscular dystrophies [MeSH Descriptor]
Record concept(s)
- Filaminopathy, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscle filaminopathy [ORDO Disease]
- Myopathy, myofibrillar, 5 [OMIM Phenotype]
- myofibrillar myopathy 5 [DO Concept]

Keyword's position in hierarchy(ies) :

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