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gecombineerd defect in oxidatieve fosforylering type 11 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 11
gecombineerd defect in OXPHOS type 11
COXPD11
Combined oxidative phosphorylation defect type 11
COXPD11 - combined oxidative phosphorylation defect type 11
A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss and renal disease. Additional variably observed clinical features include intellectual disability, seizures, and cardiomyopathy. Caused by homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.
Id783558004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
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