459063003: Congenital disorder of glycosylation type Ia (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\Congenital disorder of glycosylation type Ia (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital disorder of glycosylation type Ia (disorder)

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital disorder of glycosylation type Ia (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2013. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2922250016 Congenital disorder of glycosylation type Ia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2922256010 Congenital disorder of glycosylation type Ia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5447419011 Carbohydrate deficient glycoprotein syndrome type Ia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5447420017 Congenital disorder of glycosylation type 1a en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5447421018 PMM2-CDG (congenital disorder of glycosylation) en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5894931000241117 CDG1A (congenital disorder of glycosylation, type 1a) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5894941000241110 anomalie congénitale de la glycosylation de type 1a fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5894951000241113 syndrome des glycoprotéines déficientes en hydrates de carbone de type Ia fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3447201001000114 PMM2-CDG de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital disorder of glycosylation type Ia (disorder)	Is a	Carbohydrate-deficient glycoprotein syndrome type I	true	Inferred relationship	Some
Congenital disorder of glycosylation type Ia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital disorder of glycosylation type Ia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital disorder of glycosylation type Ia (disorder)	Due to	Deficiency of phosphomannomutase 2 (disorder)	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets