711155008: ALG12-congenital disorder of glycosylation (disorder)

SNOMED CT Concept\Clinical finding (finding)\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 I\ALG12-congenital disorder of glycosylation (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\ALG12-congenital disorder of glycosylation (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\ALG12-congenital disorder of glycosylation (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\ALG12-congenital disorder of glycosylation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3047526012 ALG12-congenital disorder of glycosylation (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3047527015 ALG12-congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3047528013 Congenital disorder of glycosylation type Ig en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3047529017 Congenital disorder of glycosylation type 1G en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

11304181000172114 CDG1G (congenital disorder of glycosylation, type 1g) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

11304191000172112 trouble congénital de la glycosylation de type 1g fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11304201000172110 syndrome des glycoprotéines déficientes en hydrates de carbone 1g fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5205331000172115 ALG-12-CDG nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5205341000172110 congenital disorder of glycosylation type 1g nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5205351000172112 congenitaal defect in glycosylering type 1g nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
ALG12-congenital disorder of glycosylation (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
ALG12-congenital disorder of glycosylation (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
ALG12-congenital disorder of glycosylation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets