Autosomal recessive hereditary disorder
Cardiovascular system hereditary disorder
Disorder of mitochondrial respiratory chain complexes
Hypertrophic mitochondrial cardiomyopathy
Mitochondrial cytopathy
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Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder)
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
Due toMitochondrial cytopathy
OccurrenceCongenital
Associated morphologyHypertrophy
Finding siteMyocardium structure
ICD-10 complex map reference set
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