723624008: Solute carrier family 35 member A1 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\Solute carrier family 35 member A1 congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Solute carrier family 35 member A1 congenital disorder of glycosylation
• \Metabolic disease\Disorder of pyrimidine metabolism\Solute carrier family 35 member A1 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Solute carrier family 35 member A1 congenital disorder of glycosylation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3425313015	Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3425314014	Solute carrier family 35 member A1 congenital disorder of glycosylation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3425315010	SLC35A1 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3425316011	CMP-sialic acid transporter deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3425317019	Carbohydrate deficient glycoprotein syndrome type IIf	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3425318012	Congenital disorder of glycosylation type 2f	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3425319016	Congenital disorder of glycosylation type IIf	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3425322019	SLC35A1 (solute carrier family 35 member A1) congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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