725028009: Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding (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 II\Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3437640019	Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437641015	Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437642010	Carbohydrate deficient glycoprotein syndrome type IIb	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437643017	Congenital disorder of glycosylation type 2b	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437644011	Congenital disorder of glycosylation type IIb	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437645012	Glucosidase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437646013	MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403354015	MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403355019	MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterised by generalised hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinaemia with generalised oedema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437640019	Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437641015	Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437642010	Carbohydrate deficient glycoprotein syndrome type IIb	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437643017	Congenital disorder of glycosylation type 2b	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437644011	Congenital disorder of glycosylation type IIb	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437645012	Glucosidase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437646013	MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437647016	A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437648014	A form of congenital disorders of N-linked glycosylation characterised by generalised hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinaemia with generalised oedema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403354015	MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403355019	MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterised by generalised hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinaemia with generalised oedema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431121001000119	GCS1-CDG	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6336491000241111	trouble congénital de glycosylation de type 2b	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6336501000241116	trouble congénital de la glycosylation lié à la mannosyloligosaccharide glucosidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6336511000241119	déficit en glucosidase 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6336491000241111	trouble congénital de glycosylation de type 2b	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6336501000241116	trouble congénital de la glycosylation lié à la mannosyloligosaccharide glucosidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6336511000241119	déficit en glucosidase 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3431121001000119	GCS1-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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