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gecombineerd defect in oxidatieve fosforylering type 29 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 29
COXPD29
gecombineerd defect in OXPHOS type 29
Combined oxidative phosphorylation defect type 29
COXPD29 - combined oxidative phosphorylation defect type 29
A rare mitochondrial oxidative phosphorylation disorder with characteristics of microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.
Id1172843003
StatusPrimitive
Occurrencecongenitaal
Associated morphologyatrophia
Finding sitestructuur van cerebellum
SNOMED CT to Orphanet simple map478029
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified