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 above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Finding of substance level\Finding of blood substance level\Finding of serum lipid levels\Finding of serum cholesterol level\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Finding of substance level\Finding of blood substance level\Finding of serum lipid levels\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Finding of substance level\Finding of lipid level\Finding of serum lipid levels\Finding of serum cholesterol level\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Finding of substance level\Finding of lipid level\Finding of serum lipid levels\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Finding of substance level\Finding of lipid level\Finding of cholesterol level\Finding of serum cholesterol level\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Finding of substance level\Finding of lipid level\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Finding of substance level\Finding of lipid level\Lipids outside reference range\Lipid above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Finding of substance level\Finding of lipid level\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Lipids outside reference range\Serum cholesterol outside reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Serum lipids above reference range\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \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\Transmembrane protein 199 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Transmembrane protein 199 congenital disorder of glycosylation
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Transmembrane protein 199 congenital disorder of glycosylation
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Hyperlipidemia\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Transmembrane protein 199 congenital disorder of glycosylation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Mar 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4970694019	Transmembrane protein 199 congenital disorder of glycosylation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4970695018	Transmembrane protein 199 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4970701012	TMEM199 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4970702017	Congenital disorder of glycosylation type IIp	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4970703010	TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4970704016	CDG (congenital disorder of glycosylation) syndrome type IIp	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4970705015	Carbohydrate deficient glycoprotein syndrome type IIp	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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