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Combined oxidative phosphorylation defect type 23 (disorder)
Combined oxidative phosphorylation defect type 23
COXPD23 - combined oxidative phosphorylation defect type 23
A rare mitochondrial disease with characteristics of early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.
gecombineerd defect in oxidatieve fosforylering type 23
gecombineerd defect in OXPHOS type 23
COXPD23
Id1173036000
StatusPrimitive
OccurrenceCongenital
ICD-10 complex map reference set
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified