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gecombineerd defect in oxidatieve fosforylering type 2 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 2
COXPD2
gecombineerd defect in OXPHOS type 2
Combined oxidative phosphorylation defect type 2
COXPD2 - combined oxidative phosphorylation defect type 2
A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.
Id764943000
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified