Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4696316014 | QRSL1-related combined oxidative phosphorylation defect | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4696417018 | Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4696418011 | Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13581021000146114 | 'glutaminyl-transfer ribonucleic acid amidotransferase subunit'-gerelateerd gecombineerd defect in oxidatieve fosforylering (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13581031000146111 | QRSL1-gerelateerd gecombineerd defect in OXPHOS | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13581041000146115 | QRSL1-gerelateerde gecombineerde oxidatieve fosforylatiedeficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13581051000146117 | 'glutaminyl-transfer ribonucleic acid amidotransferase subunit'-gerelateerd gecombineerd defect in oxidatieve fosforylering | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13581061000146119 | 'glutaminyl-tRNA amidotransferase subunit'-gerelateerde COXPD | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4696317017 | 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 grey matter structures on brain MRI have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4696318010 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| QRSL1-related combined oxidative phosphorylation defect | Is a | Disorder of mitochondrial respiratory chain complexes | true | Inferred relationship | Some | ||
| QRSL1-related combined oxidative phosphorylation defect | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| QRSL1-related combined oxidative phosphorylation defect | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| QRSL1-related combined oxidative phosphorylation defect | Is a | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| QRSL1-related combined oxidative phosphorylation defect | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| QRSL1-related combined oxidative phosphorylation defect | Due to | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | 3 | |
| QRSL1-related combined oxidative phosphorylation defect | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| QRSL1-related combined oxidative phosphorylation defect | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
| QRSL1-related combined oxidative phosphorylation defect | Associated morphology | Hypertrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR