| genetische recidiverende myoglobinurie (aandoening) | | genetische recidiverende myoglobinurie | | Genetic recurrent myoglobinuria | | 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. |
| | Id | 716721003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | R82.1 | | Term | Myoglobinurie |
|
| SNOMED CT to Orphanet simple map | 99845 |
| SNOMED CT to ICD-10 extended map | | Target | R82.1 | | Rule | TRUE | | Advice | ALWAYS R82.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
