Code System Concept

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Code System Concept

Code System Concept Code	1208738002
Code System Concept Name	Transmembrane protein 199 congenital disorder of glycosylation (disorder)
Code System Preferred Concept Name	Transmembrane protein 199 congenital disorder of glycosylation (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	09/01/2022
SDO Date Created	03/31/2022
SDO Date Revised	03/31/2022
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4970694019	Transmembrane protein 199 congenital disorder of glycosylation	Active	Synonym	false	false
4970701012	TMEM199 congenital disorder of glycosylation	Active	Synonym	false	false
4970702017	Congenital disorder of glycosylation type IIp	Active	Synonym	false	false
4970703010	TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation	Active	Synonym	false	false
4970704016	CDG (congenital disorder of glycosylation) syndrome type IIp	Active	Synonym	false	false
4970705015	Carbohydrate deficient glycoprotein syndrome type IIp	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Carbohydrate-deficient glycoprotein syndrome type II (disorder) {277894008 , SNOMED-CT } Hypercholesterolemia (disorder) {13644009 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,