progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive

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

MeSH note : mutation in POLG;

MeSH synonym : progressive external ophthalmoplegia, autosomal recessive;

Details

Origin ID

C564926;

UMLS CUI

C1850303;

Currated CISMeF NLP mapping
- Autosomal recessive progressive external ophthalmoplegia [ORDO Disease]
- Autosomal recessive progressive external ophthalmoplegia (disorder) [SNOMED CT concept]
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 [OMIM Phenotype]
- Progressive external ophthalmoplegia, autosomal recessive [ICD-11 More detail]
MeSH term(s) associated for indexing
- ophthalmoplegia [MeSH Descriptor]
Record concept(s)
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive progressive external ophthalmoplegia [ORDO Disease]
- Autosomal recessive progressive external ophthalmoplegia (disorder) [SNOMED CT concept]

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