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725587007: Carbohydrate deficient glycoprotein syndrome type 2d (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3444099011 Carbohydrate deficient glycoprotein syndrome type 2d en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444100015 B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3444101016 Beta-1,4-galactosyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444102011 Carbohydrate deficient glycoprotein syndrome type IId en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3444103018 Congenital disorder of glycosylation type 2d en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444104012 Congenital disorder of glycosylation type IId en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403486012 B4GALT1-CDG is a congenital disorder of glycosylation characterized by 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 (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403487015 B4GALT1-CDG is a congenital disorder of glycosylation characterised by 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 (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3444098015 Carbohydrate deficient glycoprotein syndrome type 2d (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3444098015 Carbohydrate deficient glycoprotein syndrome type 2d (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444099011 Carbohydrate deficient glycoprotein syndrome type 2d en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3444099011 Carbohydrate deficient glycoprotein syndrome type 2d en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444100015 B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3444101016 Beta-1,4-galactosyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444102011 Carbohydrate deficient glycoprotein syndrome type IId en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3444103018 Congenital disorder of glycosylation type 2d en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3444103018 Congenital disorder of glycosylation type 2d en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444104012 Congenital disorder of glycosylation type IId en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403486012 B4GALT1-CDG is a congenital disorder of glycosylation characterized by 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 (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403487015 B4GALT1-CDG is a congenital disorder of glycosylation characterised by 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 (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3436031001000114 B4GALT1-CDG de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5777221000241114 syndrome des glycoprotéines déficientes en hydrates de carbone de type 2d fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5777231000241111 syndrome CDG (congenital disorders of glycosylation) de type 2d fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5777251000241115 syndrome des glycoprotéines déficientes en glucides de type 2d fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5777221000241114 syndrome des glycoprotéines déficientes en hydrates de carbone de type 2d fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5777231000241111 syndrome CDG (congenital disorders of glycosylation) de type 2d fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5777251000241115 syndrome des glycoprotéines déficientes en glucides de type 2d fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3436031001000114 B4GALT1-CDG de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
B4GALT1-CDG is a congenital disorder of glycosylation characterized by 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 (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
B4GALT1-CDG is a congenital disorder of glycosylation characterized by 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 (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. Is a Carbohydrate-deficient glycoprotein syndrome type II true Inferred relationship Existential restriction modifier (core metadata concept)
B4GALT1-CDG is a congenital disorder of glycosylation characterized by 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 (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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