1187623009: Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of protein level (finding)\Finding of immunoglobulin level (finding)\Immunoglobulins outside reference range\Increased immunoglobulin\Hyperimmunoglobulin E syndrome\PGM3-related congenital disorder of glycosylation
• \Measurement finding outside reference range\Measurement finding above reference range (finding)\Increased immunoglobulin\Hyperimmunoglobulin E syndrome\PGM3-related congenital disorder of glycosylation
• \Measurement finding outside reference range\Immunoglobulins outside reference range\Increased immunoglobulin\Hyperimmunoglobulin E syndrome\PGM3-related congenital disorder of glycosylation
• \Disease\Genetic disease\Hyperimmunoglobulin E syndrome\PGM3-related congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\PGM3-related congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\PGM3-related congenital disorder of glycosylation
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Hyperimmunoglobulin E syndrome\PGM3-related congenital disorder of glycosylation
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\PGM3-related congenital disorder of glycosylation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\PGM3-related congenital disorder of glycosylation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\PGM3-related congenital disorder of glycosylation
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\PGM3-related congenital disorder of glycosylation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674429015	Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674430013	Phosphoglucomutase 3-related congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674431012	Combined immunodeficiency due to PGM3 (phosphoglucomutase 3) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674432017	PGM3-related congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399670016	A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399671017	A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterised by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674428011	PGM3-CDG - phosphoglucomutase 3-related congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674429015	Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674430013	Phosphoglucomutase 3-related congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674431012	Combined immunodeficiency due to PGM3 (phosphoglucomutase 3) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674432017	PGM3-related congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399670016	A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399671017	A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterised by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3450091001000111	PGM3-CDG	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487301000241112	déficit immunitaire combiné par déficit en PGM3 (phosphoglucomutase 3)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487311000241114	anomalie congénitale de la glycosylation associée au gène phosphoglucomutase 3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487301000241112	déficit immunitaire combiné par déficit en PGM3 (phosphoglucomutase 3)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487311000241114	anomalie congénitale de la glycosylation associée au gène phosphoglucomutase 3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3450091001000111	PGM3-CDG	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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