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gecombineerd defect in oxidatieve fosforylering type 20 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 20
COXPD20
gecombineerd defect in OXPHOS type 20
Combined oxidative phosphorylation deficiency type 20
COXPD20 - combined oxidative phosphorylation deficiency type 20
A rare mitochondrial oxidative phosphorylation disorder with characteristics of variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I). Caused by homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.
Id783178001
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