1187171005: Solute carrier family 39 member 8 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\Carbohydrate-deficient glycoprotein syndrome type II\SLC39A8 congenital disorder of glycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\SLC39A8 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 II\SLC39A8 congenital disorder of glycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\SLC39A8 congenital disorder of glycosylation

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4670241018	Solute carrier family 39 member 8 congenital disorder of glycosylation	en	Synonym	Active	Case insensitive	SNOMED CT core
4670242013	SLC39A8-CDG - solute carrier family 39 member 8 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
4670243015	Congenital disorder of glycosylation type 2n	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4670244014	SLC39A8 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
4670245010	Congenital disorder of glycosylation type IIn	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4670246011	Carbohydrate deficient glycoprotein syndrome type IIn	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4670247019	Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4670248012	A rare congenital disorder of glycosylation with characteristics of infantile onset of global developmental delay, severe intellectual disability, hypotonia and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections and osteopenia among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialotransferrin and increased asialotransferrin, monosialotransferrin, disialotransferrin, and trisialotransferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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