Kearns-Sayre Syndrome

Preferred Label : Kearns-Sayre Syndrome;

NCIt definition : A rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss, ataxia and short stature.;

Alternative definition : NICHD: A genetically heterogenous condition caused by various deletions of mitochondrial DNA. The condition is characterized by myopathy, with ragged red fibers on histopathology of muscle biopsy, progressive external ophthalmoplegia, pigmentary retinopathy, cardiac conduction defects, ataxia, cognitive impairment, and diabetes mellitus.;

Details

Origin ID

C84798;

UMLS CUI

C0022541;

Automatic exact mappings (from CISMeF team)
- Kearns-Sayre syndrome [DO Concept]
- Kearns-Sayre syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Kearns-Sayre syndrome [PASCAL descriptor]
- Kearns-Sayre syndrome [Disease (Nov.)]
- Kearns-Sayre syndrome [MedDRA Preferred Term]
- Kearns-Sayre syndrome [MeSH Descriptor]
- Kearns-Sayre syndrome [MeSH concept]
- Kearns-Sayre syndrome [ORDO Disease]
- Kearns-Sayre syndrome (disorder) [SNOMED CT concept]
- Kearns-sayre syndrome [OMIM Phenotype]
- Other paralytic strabismus [ICD-10 Sub-category]
- Other paralytic strabismus [ICD-10 Sub-category (who)]
- ophthalmoplegia plus syndrome [SNOMED Notion]
DO Cross reference
- Kearns-Sayre syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kearns-Sayre syndrome [ORDO Disease]
- Kearns-Sayre syndrome [DO Concept]
- Kearns-Sayre syndrome [Disease (Nov.)]
- Kearns-Sayre syndrome [MedDRA Preferred Term]
- Kearns-Sayre syndrome [MeSH concept]
- Kearns-Sayre syndrome [MeSH Descriptor]
- Kearns-Sayre syndrome (disorder) [SNOMED CT concept]
- Kearns-sayre syndrome [OMIM Phenotype]
- Oculocraniosomatic syndrome (disorder) [Inactive SNOMED CT concept]
- Ophthalmoplegia plus syndrome (disorder) [SNOMED CT concept]
- Other paralytic strabismus [ICD-10 Sub-category (who)]
- oculocraniosomatic syndrome [SNOMED Notion]
- ophthalmoplegia plus syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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