| stollingsstoornis door deficiëntie van calcium- en diacylglycerol-gereguleerde 'guanine nucleotide exchange factor I' (aandoening) | | stollingsstoornis door deficiëntie van calcium- en diacylglycerol-gereguleerde 'guanine nucleotide exchange factor I' | | bloedingsstoornis door CalDAG-GEFI-deficiëntie
| | Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency | | Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I
| | A rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. |
| | Id | 725105006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D69.1 | | Term | Kwalitatieve trombocytenafwijkingen |
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| SNOMED CT to Orphanet simple map | 420566 |
| SNOMED CT to ICD-10 extended map | | Target | D69.1 | | Rule | TRUE | | Advice | ALWAYS D69.1 | 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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