1187623009: Phosphoglucomutase 3-related 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\Phosphoglucomutase 3-related congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phosphoglucomutase 3-related congenital disorder of glycosylation
• \Disorder of immune function\Immunodeficiency disorder\...
• \Primary immune deficiency disorder\Combined immunodeficiency disease\Phosphoglucomutase 3-related congenital disorder of glycosylation
• \Congenital immunodeficiency disease\Phosphoglucomutase 3-related congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Phosphoglucomutase 3-related congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Phosphoglucomutase 3-related congenital disorder of glycosylation
• \Congenital disease\Congenital immunodeficiency disease\Phosphoglucomutase 3-related congenital disorder of glycosylation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674428011	PGM3-CDG - phosphoglucomutase 3-related congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4674429015	Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4674430013	Phosphoglucomutase 3-related congenital disorder of glycosylation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4674431012	Combined immunodeficiency due to PGM3 (phosphoglucomutase 3) deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4674432017	PGM3-related 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

Back to Start