720977000: Asparagine-linked glycosylation 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 I\Asparagine-linked glycosylation 8 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Asparagine-linked glycosylation 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 I\Asparagine-linked glycosylation 8 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Asparagine-linked glycosylation 8 congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322732017	Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3322733010	Asparagine-linked glycosylation 8 congenital disorder of glycosylation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322734016	ALG8 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3322735015	Carbohydrate deficient glycoprotein syndrome type Ih	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3322736019	Congenital disorder of glycosylation type 1h	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322737011	Congenital disorder of glycosylation type Ih	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3322738018	Glucosyltransferase 2 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322750012	ALG8-CDG - asparagine-linked glycosylation 8 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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