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gecombineerd defect in oxidatieve fosforylering type 17 (aandoening)
gecombineerd defect in oxidatieve fosforylering type 17
COXPD17
gecombineerd defect in OXPHOS type 17
Combined oxidative phosphorylation defect type 17
COXPD17 - combined oxidative phosphorylation defect type 17
A rare genetic mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of infantile-onset severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported. Caused by homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12.
Id775908005
StatusPrimitive
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
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