720941007: Asparagine-linked glycosylation 1 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 1 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Asparagine-linked glycosylation 1 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 1 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 1 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
3322575014	Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3322690019	Asparagine-linked glycosylation 1 congenital disorder of glycosylation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322691015	ALG1 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3322692010	Congenital disorder of glycosylation type 1K	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3322693017	Carbohydrate deficient glycoprotein syndrome type Ik	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3322694011	Mannosyltransferase 1 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322752016	ALG1-CDG - asparagine-linked glycosylation 1 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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