1208738002: Transmembrane protein 199 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\...
• \Finding of substance level\Finding of blood substance level\Blood substance level above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Finding of substance level\Finding of blood substance level\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Finding of substance level\Finding of blood substance level\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Finding of substance level\Lipid level - finding\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Finding of substance level\Lipid level - finding\Serum lipid levels - finding\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Finding of substance level\Lipid level - finding\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Finding of substance level\Lipid level - finding\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Lipids abnormal\Serum cholesterol outside reference range\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Serum lipids high\Serum cholesterol raised\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Lipids abnormal\Lipid above reference range\Hyperlipidaemia\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \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\TMEM199 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\TMEM199 congenital disorder of glycosylation
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\TMEM199 congenital disorder of glycosylation
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidaemia\Hypercholesterolaemia\TMEM199 congenital disorder of glycosylation
• \Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\TMEM199 congenital disorder of glycosylation

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4970694019	Transmembrane protein 199 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
4970695018	Transmembrane protein 199 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4970701012	TMEM199 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
4970702017	Congenital disorder of glycosylation type IIp	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4970703010	TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
4970704016	CDG (congenital disorder of glycosylation) syndrome type IIp	en	Synonym	Active	Case sensitive	SNOMED CT core
4970705015	Carbohydrate deficient glycoprotein syndrome type IIp	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4970709014	A rare congenital disorder of glycosylation characterised by chronic non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolaemia and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.	en	Definition	Active	Case sensitive	SNOMED CT core
4970710016	A rare congenital disorder of glycosylation characterized by chronic non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.	en	Definition	Active	Case sensitive	SNOMED CT core

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