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FASTKD2-gerelateerde infantiele mitochondriale encefalomyopathie (aandoening)
FASTKD2-gerelateerde infantiele mitochondriale encefalomyopathie
FASTKD2-related infantile mitochondrial encephalomyopathy
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy
A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.
Id778029000
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3
CorrelationSNOMED CT source code to target map code correlation not specified