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hepatische encefalopathie door gecombineerd defect van oxidatieve fosforylering type 1 (aandoening)
hepatische encefalopathie door gecombineerd defect van oxidatieve fosforylering type 1
hepatische encefalopathie door COXPD1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hepatoencephalopathy due to COXPD1 (combined oxidative phosphorylation defect type 1)
A rare inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis. The disease has characteristics of intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.
Id764962002
StatusPrimitive
Finding sitestructuur van lever
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified