| autosomaal recessieve sideroblastische anemie beginnend op volwassen leeftijd (aandoening) | | autosomaal recessieve sideroblastische anemie beginnend op volwassen leeftijd | | GLRX5-gerelateerde sideroblastische anemie
aan glutaredoxine-5 gerelateerde sideroblastische anemie
| | Adult-onset autosomal recessive sideroblastic anemia | | GLRX5 (glutaredoxin 5) related sideroblastic anemia
| | A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. |
| | Id | 720465002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D64.0 | | Term | Hereditaire sideroblastische anemie |
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| SNOMED CT to Orphanet simple map | 255132 |
| SNOMED CT to ICD-10 extended map | | 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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