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gecombineerd defect in oxidatieve fosforylering type 27 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 27
gecombineerd defect in OXPHOS type 27
COXPD27
Combined oxidative phosphorylation defect type 27
COXPD27 - combined oxidative phosphorylation defect type 27
A rare mitochondrial oxidative phosphorylation disorder with a variable clinical phenotype. Manifestations include infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder and liver involvement along with childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment and progressive tetraparesis. Serum lactate may be increased and brain imaging shows variable atrophy and white matter abnormalities.
Id1172844009
StatusPrimitive
Occurrencecongenitaal
Associated morphologyatrophia
Finding sitestructuur van encephalon
SNOMED CT to Orphanet simple map477774
SNOMED CT to ICD-10 extended map
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