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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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE88.8
TermOverige gespecificeerde stofwisselingsstoornissen
SNOMED CT to Orphanet simple map420733
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified