459063003: Congenital disorder of glycosylation type Ia (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 I\Congenital disorder of glycosylation type Ia
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital disorder of glycosylation type Ia
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital disorder of glycosylation type Ia
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital disorder of glycosylation type Ia

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
2922256010	Congenital disorder of glycosylation type Ia	en	Synonym	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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