733601006: Congenital disorder of glycosylation type 1q (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\Congenital disorder of glycosylation type 1q
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital disorder of glycosylation type 1q
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital disorder of glycosylation type 1q
• \Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital disorder of glycosylation type 1q

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
3499660017	Congenital disorder of glycosylation type 1q (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3499661018	SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3499662013	Congenital disorder of glycosylation type 1q	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3499663015	Congenital disorder of glycosylation type Iq	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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