763531001: Familial benign copper deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Hereditary metabolic disease\Familial benign copper deficiency
• \Familial disease\Familial benign copper deficiency
• \Metabolic disease\Hereditary metabolic disease\Familial benign copper deficiency
• \Metabolic disease\Disorder of mineral metabolism\Copper metabolism disorder\Familial benign copper deficiency
• \Malnutrition\Nutritional deficiency disorder\Undernutrition\Deficiency of micronutrients\Mineral deficiency\Hypocupraemia\Familial benign copper deficiency

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642758018	Familial benign copper deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3642759014	Familial benign hypocupremia	en	Synonym	Active	Case insensitive	SNOMED CT core
3642760016	Familial benign copper deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3642761017	Familial benign hypocupraemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3642762012	A rare disorder of mineral absorption and transport characterised by hypocupraemia that manifests as failure to thrive, mild anaemia, repeated seizures, hypotonia and seborrhoeic 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.	en	Definition	Active	Case sensitive	SNOMED CT core
3642763019	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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