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gecombineerd defect in oxidatieve fosforylering type 25 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 25
COXPD25
gecombineerd defect in OXPHOS type 25
Combined oxidative phosphorylation defect type 25
COXPD25 - combined oxidative phosphorylation defect type 25
A rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activity. Characteristics of this disease hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.
Id1173035001
StatusPrimitive
Occurrencecongenitaal
Has interpretationgestoord
Interpretsgehoorfunctie
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