| '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. |
| | Id | 1197430005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 570491 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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