19577007: Hypocupremia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Nutritional disorder\Nutritional deficiency disorder\Undernutrition\Deficiency of micronutrients\Mineral deficiency\Hypocupremia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

32960014 Hypocupremia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

32962018 Chronic copper deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

479672013 Copper deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

479673015 Hypocupraemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

747850015 Hypocupremia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4453011000241117 hypocuprémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypocupremia	Is a	Disorder of copper metabolism	false	Inferred relationship	Some
Hypocupremia	Is a	Trace element deficiency	false	Inferred relationship	Some
Hypocupremia	Finding site	Body system structure	false	Inferred relationship	Some
Hypocupremia	Is a	Mineral deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Menkes kinky-hair syndrome	Is a	False	Hypocupremia	Inferred relationship	Some
Anemia due to copper deficiency	Is a	False	Hypocupremia	Inferred relationship	Some
Anemia due to copper deficiency	Associated etiologic finding	False	Hypocupremia	Inferred relationship	Some
Anemia due to copper deficiency	Due to	True	Hypocupremia	Inferred relationship	Some	3
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.	Is a	True	Hypocupremia	Inferred relationship	Some
Leukoencephalopathy due to copper deficiency	Due to	True	Hypocupremia	Inferred relationship	Some	2
Myelopathy due to copper deficiency	Due to	True	Hypocupremia	Inferred relationship	Some	2

This concept is not in any reference sets