Kearns-Sayre syndrome

Preferred Label : Kearns-Sayre syndrome;

ICD-11 definition : Kearns-Sayre syndrome is a mitochondrial neuromuscular disease characterised by an onset before the age of 20 years, ophthalmoplegia, ptosis and pigmentary retinitis.;

ICD-11 synonym : Chronic external ophthalmoplegia, pigmentary degeneration of retina, myopathy and cardiomyopathy; Kearns-Sayre mitochondrial cytopathy; Mitochondrial ocular myopathy; oculocraniosomatic neuromuscular disorder;

Details

Origin ID

399100745;

Automatic exact mappings (from CISMeF team)
- Kearns-Sayre Syndrome [NCIt concept]
- Kearns-Sayre syndrome [PASCAL descriptor]
- Kearns-Sayre syndrome [MeSH Descriptor]
- Kearns-Sayre syndrome [MedDRA Preferred Term]
- Kearns-Sayre syndrome [ORDO Disease]
- Kearns-Sayre syndrome [DO Concept]
- Kearns-Sayre syndrome [MeSH concept]
- Kearns-Sayre syndrome (disorder) [SNOMED CT concept]
- Kearns-sayre syndrome [OMIM Phenotype]
- ophthalmoplegia, chronic progressive external [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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