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

http://id.who.int/icd/release/11/2019-04/mms/601991549

label

线粒体肌病 / Mitochondrial myopathies

mappingRelation

http://purl.bmicc.cn/ontology/ICD10CN/G71.3

notation

8C73

prefixIRI

ICD11CN:C73

prefLabel

线粒体肌病 / Mitochondrial myopathies

subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/L2-8C7

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http://purl.bioontology.org/ontology/MESH/D017240 Medical Subject Headings LOOM