| hyperzinkemie en hypercalprotectinemie (aandoening) | | hyperzinkemie en hypercalprotectinemie | | Hyperzincemia and hypercalprotectinemia | | Recurrent infection, inflammatory syndrome due to zinc metabolism disorder syndrome
| | A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. |
| | Id | 771339005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E83.2 | | Term | Stoornissen van zinkmetabolisme |
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| SNOMED CT to Orphanet simple map | 251523 |
| SNOMED CT to ICD-10 extended map | | Target | E83.2 | | Rule | TRUE | | Advice | ALWAYS E83.2 | 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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