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\Glycoprotein metabolism disorder\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\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Phosphoglucomutase 3-related congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\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, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674428011	PGM3-CDG - phosphoglucomutase 3-related congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
4674429015	Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4674430013	Phosphoglucomutase 3-related congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
4674431012	Combined immunodeficiency due to PGM3 (phosphoglucomutase 3) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674432017	PGM3-related congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
4674433010	A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene with characteristics of neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses and marked serum immunoglobulin E elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.	en	Definition	Active	Case sensitive	SNOMED CT core

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Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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