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'glutaminyl-transfer ribonucleic acid amidotransferase subunit'-gerelateerd gecombineerd defect in oxidatieve fosforylering (aandoening)
QRSL1-gerelateerde gecombineerde oxidatieve fosforylatiedeficiëntie
'glutaminyl-transfer ribonucleic acid amidotransferase subunit'-gerelateerd gecombineerd defect in oxidatieve fosforylering
'glutaminyl-tRNA amidotransferase subunit'-gerelateerde COXPD
QRSL1-gerelateerd gecombineerd defect in OXPHOS
QRSL1-related combined oxidative phosphorylation defect
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect
A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.
Id1197430005
StatusPrimitive
Occurrencecongenitaal
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
SNOMED CT to Orphanet simple map570491
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