725028009: Mannosyl-oligosaccharide glycosidase 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\Carbohydrate-deficient glycoprotein syndrome type II\MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3437641015	Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
3437642010	Carbohydrate deficient glycoprotein syndrome type IIb	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437643017	Congenital disorder of glycosylation type 2b	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437644011	Congenital disorder of glycosylation type IIb	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437645012	Glucosidase 1 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3437646013	MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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