Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3736321019 | COXPD17 - combined oxidative phosphorylation defect type 17 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736322014 | Combined oxidative phosphorylation defect type 17 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736323016 | Combined oxidative phosphorylation defect type 17 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5915561000146114 | gecombineerd defect in oxidatieve fosforylering type 17 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5915571000146115 | gecombineerd defect in oxidatieve fosforylering type 17 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5915581000146118 | gecombineerd defect in OXPHOS type 17 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7014001000146114 | COXPD17 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3731999019 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined oxidative phosphorylation defect type 17 (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
| Combined oxidative phosphorylation defect type 17 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 17 (disorder) | Is a | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 17 (disorder) | Due to | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | 2 | |
| Combined oxidative phosphorylation defect type 17 (disorder) | Associated morphology | Hypertrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Combined oxidative phosphorylation defect type 17 (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 17 (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Combined oxidative phosphorylation defect type 17 (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR