Preferred Name |
线粒体肌病 / Mitochondrial myopathies |
Definitions |
Mitochondrial myopathies are heterogeneous group of disorders caused by dysfunction of mitochondrial oxidative phosphorylation and can be classified according to the associated biochemical, genetic defects (in the mitochondrial DNA or in nuclear encoded proteins) or clinical phenotype. Exclude: defects of mitochondrial respiratory chain, Kearns-Sayre syndrome, myoclonic epilepsy with ragged red fibers (MERRF) |
ID |
http://purl.bmicc.cn/ontology/ICD11CN/8C73 |
Coded_Elsewhere |
Progressive external ophthalmoplegia (9C82.0) Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (8C73.Y) Leigh syndrome (5C53.24) Myoclonic epilepsy, ragged red fibres (8C73.Y) |
definition |
Mitochondrial myopathies are heterogeneous group of disorders caused by dysfunction of mitochondrial oxidative phosphorylation and can be classified according to the associated biochemical, genetic defects (in the mitochondrial DNA or in nuclear encoded proteins) or clinical phenotype. Exclude: defects of mitochondrial respiratory chain, Kearns-Sayre syndrome, myoclonic epilepsy with ragged red fibers (MERRF) |
hasDbXref | |
label |
线粒体肌病 / Mitochondrial myopathies |
mappingRelation | |
notation |
8C73 |
prefixIRI |
ICD11CN:C73 |
prefLabel |
线粒体肌病 / Mitochondrial myopathies |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/D017240 | Medical Subject Headings | LOOM |