| syndroom van mitochondriale myopathie met sideroblastische anemie (aandoening) | | syndroom van mitochondriale myopathie met sideroblastische anemie | | Mitochondrial myopathy with sideroblastic anemia syndrome | | Myopathy, lactic acidosis and sideroblastic anemia
| | Belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia and mitochondrial myopathy. Less than 10 cases have been described so far. A 656C-->T mutation in the nuclear pseudouridine synthase 1 gene (PUS1), localized to 12q24.33, has recently been identified in some patients. Deficient pseudouridylation of mitochondrial tRNAs may be responsible for the oxidative phosphorylation disorder. Transmission is autosomal recessive. |
| | Id | 724138007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.3 | | Term | Mitochondriën-myopathie, niet elders geclassificeerd |
| Target | D64.0 | | Term | Hereditaire sideroblastische anemie |
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| SNOMED CT to Orphanet simple map | 2598 |
| SNOMED CT to ICD-10 extended map | | Target | G71.3 | | Rule | TRUE | | Advice | ALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | D64.0 | | Rule | TRUE | | Advice | ALWAYS D64.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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