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gecombineerd defect in oxidatieve fosforylering type 21 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 21
gecombineerd defect in OXPHOS type 21
COXPD21
Combined oxidative phosphorylation defect type 21
COXPD21 - combined oxidative phosphorylation defect type 21
A rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiencies of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.
Id763211004
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