progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1

Preferred Label : progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0563875;

UMLS CUI

C1834846;

Currated CISMeF NLP mapping
- Autosomal dominant progressive external ophthalmoplegia type 1 (disorder) [SNOMED CT concept]
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 [OMIM Phenotype]
- Progressive external ophthalmoplegia, autosomal dominant, type 1 [ICD-11 More detail]
Related record
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 [OMIM Phenotype]
- Progressive external ophthalmoplegia, autosomal dominant, type 1 [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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