| Zuidoost-Aziatische ovalocytose (aandoening) | | Zuidoost-Aziatische ovalocytose | | SAO
| | Southeast Asian ovalocytosis | | Melanesian ovalocytosis
Stomatocytic elliptocytosis
| | A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance. |
| | Id | 723623002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D58.1 | | Term | Hereditaire elliptocytose |
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| SNOMED CT to Orphanet simple map | 98868 |
| SNOMED CT to ICD-10 extended map | | Target | D58.1 | | Rule | TRUE | | Advice | ALWAYS D58.1 | 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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