725587007: Carbohydrate deficient glycoprotein syndrome type 2d (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\B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency 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\B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3444098015	Carbohydrate deficient glycoprotein syndrome type 2d (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3444099011	Carbohydrate deficient glycoprotein syndrome type 2d	en	Synonym	Active	Case insensitive	SNOMED CT core
3444100015	B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3444101016	Beta-1,4-galactosyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3444102011	Carbohydrate deficient glycoprotein syndrome type IId	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3444103018	Congenital disorder of glycosylation type 2d	en	Synonym	Active	Case insensitive	SNOMED CT core
3444104012	Congenital disorder of glycosylation type IId	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3444105013	A congenital disorder of glycosylation with characteristics of macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.	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

Back to Start