| overgehydrateerde hereditaire stomatocytose (aandoening) | | overgehydrateerde hereditaire stomatocytose | | overgehydrateerde erfelijke stomatocytose
| | Overhydrated hereditary stomatocytosis | | A disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of hemolytic anemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex. |
| | Id | 722125003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D58.8 | | Term | Overige gespecificeerde hereditaire hemolytische anemieën |
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| SNOMED CT to Orphanet simple map | 3203 |
| SNOMED CT to ICD-10 extended map | | Target | D58.8 | | Rule | TRUE | | Advice | ALWAYS D58.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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