Kearns-Sayre syndrome

Preferred Label : Kearns-Sayre syndrome;

MeSH definition : A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984);

MeSH synonym : oculocraniosomatic syndromes; ophthalmoplegia plus syndromes; ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy; sayre syndrome, kearns; syndrome, Kearns-Sayre; cytopathy, kearn-sayre mitochondrial; kearns syndrome; syndrome, kearns; kearn-sayre mitochondrial cytopathy; mitochondrial cytopathy, kearn-sayre; kearns sayre shy daroff syndrome; syndrome, kearns sayre; kearns-sayre-shy-daroff syndrome; syndrome, kearns-sayre-shy-daroff; oculocraniosomatic syndrome; syndrome, oculocraniosomatic; ophthalmoplegia plus syndrome; syndrome, ophthalmoplegia plus; kearn sayre mitochondrial cytopathy; kearns' syndrome; kearn syndrome; syndrome, kearns'; CPEO with ragged red fibers; chronic progressive external ophthalmoplegia with myopathy; CPEO with myopathy; CPEO with myopathies; myopathies, CPEO with; myopathy, CPEO with; Ophthalmoplegia-Plus syndrome; kearns sayre syndrome; ophthalmoplegia, progressive external, with Ragged-Red fibers; cpeo with Ragged-Red fibers; Kearns-Sayre mitochondrial cytopathy; Ophthalmoplegia-Plus Syndromes; Syndrome, Ophthalmoplegia-Plus; Syndromes, Ophthalmoplegia-Plus; Cytopathies, Kearns-Sayre Mitochondrial; Cytopathy, Kearns-Sayre Mitochondrial; Kearns Sayre Mitochondrial Cytopathy; Kearns-Sayre Mitochondrial Cytopathies; Mitochondrial Cytopathies, Kearns-Sayre; Mitochondrial Cytopathy, Kearns-Sayre;

CISMeF synonym : kearns-sayer syndrome; kearns sayer syndrome; syndrome, kearns-sayer; Kearns-Sayre; Kearns Sayre; Kearns-Sayre's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Oculocraniosomatic syndrome;

Details

Origin ID

D007625;

UMLS CUI

C0022541;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Borries' syndrome (disorder) [SNOMED CT concept]
- Bruns' syndrome (disorder) [SNOMED CT concept]
- Capgras' syndrome [MedDRA LLT]
- Capgras' syndrome (finding) [SNOMED CT concept]
- Carotid artery insufficiency syndrome (disorder) [SNOMED CT concept]
- Crush syndrome (disorder) [SNOMED CT concept]
- Disease (disorder) [SNOMED CT concept]
- Edwards' syndrome [MedDRA LLT]
- Eosinophilic cellulitis (disorder) [SNOMED CT concept]
- Exudative retinopathy (disorder) [SNOMED CT concept]
- Fuchs' syndrome [MedDRA Preferred Term]
- Jervis' syndrome (disorder) [SNOMED CT concept]
- Kearns-Sayre syndrome [DO Concept]
- Kearns-Sayre syndrome [ICD-11 More detail]
- Meigs Syndrome [NCIt concept]
- Meigs' syndrome [MedDRA Preferred Term]
- Meigs' syndrome (disorder) [SNOMED CT concept]
- Menkes' syndrome [MedDRA Preferred Term]
- Milles' syndrome [MedDRA LLT]
- Moebius II syndrome [MedDRA Preferred Term]
- Moyamoya disease (disorder) [SNOMED CT concept]
- Oculocraniosomatic syndrome (disorder) [Inactive SNOMED CT concept]
- Olivopontocerebellar degeneration (disorder) [SNOMED CT concept]
- Oromandibular-limb hypogenesis spectrum (disorder) [SNOMED CT concept]
- Peripartum cardiomyopathy [ORDO Disease]
- Polypoid sinus degeneration (disorder) [SNOMED CT concept]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- Spens' syndrome [MedDRA LLT]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Syndrome [NCIt concept]
- Trisomy 18 [MedDRA Preferred Term]
- borries' syndrome [SNOMED Notion]
- bruns' syndrome [SNOMED Notion]
- capgras' syndrome [SNOMED Notion]
- down syndrome [MedlinePlus Topic]
- four x syndrome [SNOMED Notion]
- jervis' syndrome [SNOMED Notion]
- meigs' syndrome [SNOMED Notion]
- oculocraniosomatic syndrome [SNOMED Notion]
- sotos' syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Kearns-Sayre Syndrome [NCIt concept]
- Kearns-Sayre syndrome [PASCAL descriptor]
- Kearns-Sayre syndrome [Disease (Nov.)]
- Kearns-Sayre syndrome [MedDRA Preferred Term]
- Kearns-Sayre syndrome [ORDO Disease]
- Kearns-Sayre syndrome (disorder) [SNOMED CT concept]
- Kearns-sayre syndrome [OMIM Phenotype]
- Ophthalmoplegia plus syndrome (disorder) [SNOMED CT concept]
- 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]
Manual NTBT mappings (CISMeF)
- Mitochondrial disease with dilated cardiomyopathy [ORDO Disease]
- Mitochondrial disease with eye involvement [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Syndrome with hypoparathyroidism [ORDO Disease]
- Syndromic corneal dystrophy [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic rod-cone dystrophy [ORDO Disease]
ORDO relation(s)
- Kearns-Sayre syndrome [ORDO Disease]
Record concept(s)
- Kearns-Sayre syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- mitochondrial cytopathy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kearns-Sayre Syndrome [NCIt concept]
- Kearns-Sayre syndrome [ORDO Disease]
- Kearns-Sayre syndrome [MedDRA Preferred Term]
- Kearns-Sayre syndrome [DO Concept]
- Kearns-Sayre syndrome [Disease (Nov.)]
- 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]

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