| familiaire benigne koperdeficiëntie (aandoening) | | familiaire benigne koperdeficiëntie | | familiale benigne koperdeficiëntie
familiaire goedaardige koperdeficiëntie
| | Familial benign copper deficiency | | Familial benign hypocupremia
| | 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 1982. |
| | 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 | E61.0 | | Rule | TRUE | | Advice | ALWAYS E61.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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