| familiaire benigne koperdeficiëntie (aandoening) | | familiaire benigne koperdeficiëntie | | familiale benigne koperdeficiëntie
familiaire goedaardige koperdeficiëntie
| | Familial benign copper deficiency | | Familial benign hypocupremia
| | Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988. |
| | Id | 763531001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E61.0 | | Term | Koperdeficiëntie |
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| SNOMED CT to Orphanet simple map | 1551 |
| SNOMED CT to ICD-10 extended map | | Target | E83.0 | | Rule | TRUE | | Advice | ALWAYS E83.0 | 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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