Autosomal recessive hereditary disorder
Hereditary metabolic disease
Mitochondrial cytopathy
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Combined oxidative phosphorylation defect type 8 (disorder)
Combined oxidative phosphorylation defect type 8
COXPD8 - combined oxidative phosphorylation defect type 8
A mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain. The disease has characteristics of severe hypertrophic cardiomyopathy, pulmonary hypoplasia, muscle weakness and neurological involvement. Caused by homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.
gecombineerd defect in oxidatieve fosforylering type 8
gecombineerd defect in OXPHOS type 8
COXPD8
Id733600007
StatusPrimitive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetI42.2
RuleTRUE
AdviceALWAYS I42.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified