733451007: Congenital disorder of glycosylation type 1s (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 1s
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Congenital disorder of glycosylation type 1s
• \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 1s
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital disorder of glycosylation type 1s

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3499453016	Congenital disorder of glycosylation type Is	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3499454010	ALG13-CDG (congenital disorder of glycosylation)	en	Synonym	Active	Case sensitive	SNOMED CT core
3499455011	Congenital disorder of glycosylation type 1s	en	Synonym	Active	Case insensitive	SNOMED CT core
3499456012	Congenital disorder of glycosylation type 1s (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3499998015	A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).	en	Definition	Active	Case sensitive	SNOMED CT core
3499999011	A form of congenital disorders of N-linked glycosylation characterised by microcephaly, hepatomegaly, oedema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).	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

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