771516000: Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disorder of head\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Disorder of head\Encephalopathy\Toxic metabolic encephalopathy\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Metabolic disease\Metabolic encephalopathy\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Solute carrier family 35 member A2 congenital disorder of glycosylation
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Solute carrier family 35 member A2 congenital disorder of glycosylation

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3706585011	SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3706586012	Congenital disorder of glycosylation type 2m	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706587015	Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3706588013	Congenital disorder of glycosylation type IIm	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706589017	Solute carrier family 35 member A2 congenital disorder of glycosylation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3706590014	CDG2M - congenital disorder of glycosylation type 2m	en	Synonym	Active	Case sensitive	SNOMED CT core
3706591013	A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.	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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