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gecombineerd defect in oxidatieve fosforylering type 30 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 30
COXPD30
gecombineerd defect in OXPHOS type 30
Combined oxidative phosphorylation defect type 30
COXPD30 - combined oxidative phosphorylation defect type 30
A rare mitochondrial oxidative phosphorylation disorder with characteristics of neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle.
Id1172841001
StatusPrimitive
Occurrencecongenitaal
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