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fatale mitochondriale ziekte door gecombineerd defect in oxidatieve fosforylering type 3 (aandoening)
fatale mitochondriale ziekte door gecombineerd defect in oxidatieve fosforylering type 3
fatale mitochondriale ziekte door COXPD3
combined oxidative phosphorylation deficiency type 3
fatale mitochondriale ziekte door gecombineerde oxidatieve fosforyleringdeficiƫntie type 3
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Combined oxidative phosphorylation deficiency type 3
An extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Id720951008
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