724096007: Congenital disorder of glycosylation type 1f (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\MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3437617018	Congenital disorder of glycosylation type 1f (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3437618011	Congenital disorder of glycosylation type 1f	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437619015	Carbohydrate deficient glycoprotein syndrome type If	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437620014	Mannose-P-dolichol utilization defect 1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437621013	MPDU1-CDG - mannose-P-dolichol utilization defect 1 - congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3437622018	Mannose-P-dolichol utilisation defect 1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437623011	MPDU1-CDG - mannose-P-dolichol utilisation defect 1 - congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3437624017	This disease has characteristics of psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. It has been described in four children. The syndrome is caused by mutations in the MPDU1 gene on the p13.1-p12 region of chromosome 17.	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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