Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Dec 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5159278013 | WARS2-related combined oxidative phosphorylation defect | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5159279017 | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5159280019 | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5159281015 | Mitochondrial tryptophanyl-tRNA synthetase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5159282010 | A rare mitochondrial oxidative phosphorylation disorder with characteristics of a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs with or without epilepsy and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional variably reported signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly and abnormal brain MRI findings among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| WARS2-related combined oxidative phosphorylation defect | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| WARS2-related combined oxidative phosphorylation defect | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| WARS2-related combined oxidative phosphorylation defect | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| WARS2-related combined oxidative phosphorylation defect | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| WARS2-related combined oxidative phosphorylation defect | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| WARS2-related combined oxidative phosphorylation defect | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| WARS2-related combined oxidative phosphorylation defect | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 4 | |
| WARS2-related combined oxidative phosphorylation defect | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| WARS2-related combined oxidative phosphorylation defect | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 1 | |
| WARS2-related combined oxidative phosphorylation defect | Has interpretation | Impaired | true | Inferred relationship | Some | 1 | |
| WARS2-related combined oxidative phosphorylation defect | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 2 | |
| WARS2-related combined oxidative phosphorylation defect | Has interpretation | Impaired | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR