725044000: Carbohydrate deficient glycoprotein syndrome type 1o (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\Carbohydrate deficient glycoprotein syndrome type 1o
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Carbohydrate deficient glycoprotein syndrome type 1o
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Carbohydrate deficient glycoprotein syndrome type 1o
• \Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Carbohydrate deficient glycoprotein syndrome type 1o

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
3437393010	Carbohydrate deficient glycoprotein syndrome type 1o (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3437394016	Carbohydrate deficient glycoprotein syndrome type 1o	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3437395015	Congenital disorder of glycosylation type 1o	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3437396019	DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 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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