718712005: Carbohydrate deficient glycoprotein syndrome type 1m (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\Carbohydrate deficient glycoprotein syndrome type 1m
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Carbohydrate deficient glycoprotein syndrome type 1m
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Carbohydrate deficient glycoprotein syndrome type 1m
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Carbohydrate deficient glycoprotein syndrome type 1m

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313081018	Carbohydrate deficient glycoprotein syndrome type 1m (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313103016	Carbohydrate deficient glycoprotein syndrome type 1m	en	Synonym	Active	Case insensitive	SNOMED CT core
3313106012	Carbohydrate deficient glycoprotein syndrome type Im	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3313107015	CDG1M - carbohydrate deficient glycoprotein syndrome type 1m	en	Synonym	Active	Case sensitive	SNOMED CT core
3313156019	This syndrome has characteristics of muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.	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

Description inactivation indicator reference set

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