1187171005: Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Solute carrier family 39 member 8 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Solute carrier family 39 member 8 congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Solute carrier family 39 member 8 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Solute carrier family 39 member 8 congenital disorder of glycosylation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Nov 2021. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4670241018	Solute carrier family 39 member 8 congenital disorder of glycosylation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4670242013	SLC39A8-CDG - solute carrier family 39 member 8 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4670243015	Congenital disorder of glycosylation type 2n	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4670244014	SLC39A8 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4670245010	Congenital disorder of glycosylation type IIn	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4670246011	Carbohydrate deficient glycoprotein syndrome type IIn	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4670247019	Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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