1208738002: Transmembrane protein 199 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 blood substance level\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Finding of substance level (finding)\Finding of blood substance level\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Finding of substance level (finding)\Finding of blood substance level\Serum lipid levels - finding\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Finding of substance level (finding)\Lipid level - finding\Serum lipid levels - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Finding of substance level (finding)\Lipid level - finding\Serum lipid levels - finding\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Finding of substance level (finding)\Lipid level - finding\Cholesterol level - finding\Serum cholesterol level - finding\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Finding of substance level (finding)\Lipid level - finding\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)

\Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Measurement finding outside reference range\Measurement finding above reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Measurement finding outside reference range\Lipids outside reference range\Serum cholesterol outside reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Serum lipids above reference range (finding)\Serum cholesterol above reference range\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\Measurement finding outside reference range\Lipids outside reference range\Lipid above reference range\Hyperlipidemia\Hypercholesterolemia\Transmembrane protein 199 congenital disorder of glycosylation (disorder)

\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 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Transmembrane protein 199 congenital disorder of glycosylation (disorder)
\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 (disorder)
\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 (disorder)
\Disease\Congenital disease (disorder)\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 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4970695018 Transmembrane protein 199 congenital disorder of glycosylation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4970701012 TMEM199 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4970702017 Congenital disorder of glycosylation type IIp en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4970703010 TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4970704016 CDG (congenital disorder of glycosylation) syndrome type IIp en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4970705015 Carbohydrate deficient glycoprotein syndrome type IIp en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5624241000052115 medfödd sjukdom av glykosyleringstyp TMEM199 sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Transmembrane protein 199 congenital disorder of glycosylation (disorder)	Is a	Hypercholesterolemia	true	Inferred relationship	Some
Transmembrane protein 199 congenital disorder of glycosylation (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type II	true	Inferred relationship	Some
Transmembrane protein 199 congenital disorder of glycosylation (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Transmembrane protein 199 congenital disorder of glycosylation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Transmembrane protein 199 congenital disorder of glycosylation (disorder)	Interprets	Serum total cholesterol measurement (procedure)	true	Inferred relationship	Some	1
Transmembrane protein 199 congenital disorder of glycosylation (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4970694019	Transmembrane protein 199 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4970695018	Transmembrane protein 199 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4970701012	TMEM199 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4970702017	Congenital disorder of glycosylation type IIp	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4970703010	TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4970704016	CDG (congenital disorder of glycosylation) syndrome type IIp	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4970705015	Carbohydrate deficient glycoprotein syndrome type IIp	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5624241000052115	medfödd sjukdom av glykosyleringstyp TMEM199	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)