Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3307318015 | Genetic recurrent myoglobinuria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307319011 | Genetic recurrent myoglobinuria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307320017 | An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3307321018 | An inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Genetic recurrent myoglobinuria (disorder) | Is a | Myoglobinuria | true | Inferred relationship | Some | ||
| Genetic recurrent myoglobinuria (disorder) | Is a | Inborn error of metabolism | false | Inferred relationship | Some | ||
| Genetic recurrent myoglobinuria (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Genetic recurrent myoglobinuria (disorder) | Has interpretation | Present | false | Inferred relationship | Some | 2 | |
| Genetic recurrent myoglobinuria (disorder) | Interprets | Myoglobin measurement, urine | true | Inferred relationship | Some | 2 | |
| Genetic recurrent myoglobinuria (disorder) | Interprets | Urine observable | false | Inferred relationship | Some | 3 | |
| Genetic recurrent myoglobinuria (disorder) | Is a | Lipid storage myopathy | true | Inferred relationship | Some | ||
| Genetic recurrent myoglobinuria (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Genetic recurrent myoglobinuria (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Genetic recurrent myoglobinuria (disorder) | Is a | Abnormal urinary product | true | Inferred relationship | Some | ||
| Genetic recurrent myoglobinuria (disorder) | Has interpretation | Detected | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR