723624008: Solute carrier family 35 member A1 congenital disorder of glycosylation (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\SLC35A1 congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\SLC35A1 congenital disorder of glycosylation
• \Metabolic disease\Disorder of pyrimidine metabolism\SLC35A1 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\SLC35A1 congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3425313015	Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3425314014	Solute carrier family 35 member A1 congenital disorder of glycosylation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3425315010	SLC35A1 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3425316011	CMP-sialic acid transporter deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3425317019	Carbohydrate deficient glycoprotein syndrome type IIf	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3425318012	Congenital disorder of glycosylation type 2f	en	Synonym	Active	Case insensitive	SNOMED CT core
3425319016	Congenital disorder of glycosylation type IIf	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3425322019	SLC35A1 (solute carrier family 35 member A1) congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3425320010	An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.	en	Definition	Active	Case sensitive	SNOMED CT core
3425321014	An extremely rare form of carbohydrate deficient glycoprotein syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage.	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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