progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5

Preferred Label : progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5;

MeSH note : aka PEOA5; mutations in RRM2B;

MeSH synonym : progressive external ophthalmoplegia, autosomal dominant, 5; Peoa5;

Details

Origin ID

C567768;

UMLS CUI

C2751319;

Automatic exact mappings (from CISMeF team)
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant progressive external ophthalmoplegia type 5 (disorder) [SNOMED CT concept]
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 [OMIM Phenotype]
- Progressive external ophthalmoplegia, autosomal dominant, type 5 [ICD-11 More detail]
MeSH term(s) associated for indexing
- mitochondrial diseases [MeSH Descriptor]
- ophthalmoplegia, chronic progressive external [MeSH Descriptor]
Record concept(s)
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 [MeSH concept]
See also inter- (CISMeF)
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 [OMIM Phenotype]
- RRM2B wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 [OMIM Phenotype]
- Progressive external ophthalmoplegia, autosomal dominant, type 5 [ICD-11 More detail]

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