| Toms River-hemoglobinopathie (aandoening) | | Toms River-hemoglobinopathie | | hemoglobinopathie van Toms River
| | Hemoglobinopathy Toms River | | Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
| | A rare genetic hemoglobinopathy disorder due to a defect in the gama subunit of the fetal hemoglobin and characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life. Can be caused by heterozygous mutation in the HBG2 gene on chromosome 11p15.5. |
| | Id | 782880001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D58.2 | | Term | Overige hemoglobinopathieën |
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| SNOMED CT to Orphanet simple map | 280615 |
| SNOMED CT to ICD-10 extended map | | Target | D58.2 | | Rule | TRUE | | Advice | ALWAYS D58.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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