763531001: déficit familial bénin en cuivre (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\Familial benign copper deficiency
• \Familial disease\Familial benign copper deficiency
• \trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder of copper metabolism\Familial benign copper deficiency
• \Nutritional disorder\Nutritional deficiency disorder\Undernutrition\Deficiency of micronutrients\Mineral deficiency\Hypocupremia\Familial benign copper deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1000921000172116	hypocuprémie bénigne familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3642758018	Familial benign copper deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3642759014	Familial benign hypocupremia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3642760016	Familial benign copper deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3642761017	Familial benign hypocupraemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
766201000241114	déficit familial bénin en cuivre (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
875061000172113	déficit familial bénin en cuivre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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