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gecombineerd defect in oxidatieve fosforylering type 14 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 14
COXPD14
gecombineerd defect in OXPHOS type 14
Combined oxidative phosphorylation defect type 14
COXPD14 - combined oxidative phosphorylation defect type 14
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia. Caused by homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.
Id778065005
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