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Familial benign copper deficiency (disorder)
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.
familiaire benigne koperdeficiƫntie
familiaire goedaardige koperdeficiƫntie
familiale benigne koperdeficiƫntie
Id763531001
StatusPrimitive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE61.0
RuleTRUE
AdviceALWAYS E61.0
CorrelationSNOMED CT source code to target map code correlation not specified