myopathy, distal 2

Preferred Label : myopathy, distal 2;

MeSH synonym : vocal cord and pharyngeal dysfunction with distal myopathy; VCPDM; distal myopathy with vocal cord and pharyngeal signs; vocal cord and pharyngeal weakness with distal myopathy; matrin 3 distal myopathy; Mpd2; myopathia distalis type 2; distal myopathy with vocal cord weakness;

Details

Origin ID

C565262;

UMLS CUI

C1853723;

Automatic exact mappings (from CISMeF team)
- Distal myopathy with vocal cord weakness [ICD-11 More detail]
- MATR3 wt Allele [NCIt concept]
- Vocal cord and pharyngeal distal myopathy [ORDO Disease]
- matrin 3 [ORDO Gene]
Currated CISMeF NLP mapping
- Amyotrophic lateral sclerosis 21 [OMIM Phenotype]
- Distal myopathy 2 (disorder) [SNOMED CT concept]
- distal myopathy 2 [Disease (Nov.)]
MeSH term(s) associated for indexing
- distal myopathies [MeSH Descriptor]
- laryngeal diseases [MeSH Descriptor]
- pharyngeal diseases [MeSH Descriptor]
Record concept(s)
- myopathy, distal 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal myopathy 2 (disorder) [SNOMED CT concept]

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