hereditary myopathy with early respiratory failure

Preferred Label : hereditary myopathy with early respiratory failure;

MeSH synonym : myopathy, proximal, with early respiratory muscle involvement; edstrom myopathy; HMERF; Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant;

Details

Origin ID

C566343;

UMLS CUI

C1863599;

Automatic exact mappings (from CISMeF team)
- Hereditary myopathy with early respiratory failure [ICD-11 More detail]
- TTN wt Allele [NCIt concept]
- myofibrillar myopathy 9 [DO Concept]
Currated CISMeF NLP mapping
- Hereditary myopathy with early respiratory failure [ORDO Disease]
- Hereditary myopathy with early respiratory failure (disorder) [SNOMED CT concept]
- Myopathy, myofibrillar, 9, with early respiratory failure [OMIM Phenotype]
MeSH term(s) associated for indexing
- genetic diseases, inborn [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
- respiratory insufficiency [MeSH Descriptor]
Record concept(s)
- hereditary myopathy with early respiratory failure [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary myopathy with early respiratory failure [ORDO Disease]
- Hereditary myopathy with early respiratory failure (disorder) [SNOMED CT concept]
- Myopathy, myofibrillar, 9, with early respiratory failure [OMIM Phenotype]

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