1187171005: Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\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
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\SLC39A8 congenital disorder of glycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\SLC39A8 congenital disorder of glycosylation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4670242013	SLC39A8-CDG - solute carrier family 39 member 8 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4670243015	Congenital disorder of glycosylation type 2n	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670244014	SLC39A8 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4670245010	Congenital disorder of glycosylation type IIn	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670246011	Carbohydrate deficient glycoprotein syndrome type IIn	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4670247019	Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399578016	A rare congenital disorder of glycosylation characterized by 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 tetrasialo- and increased asialo-, monosialo-, disialo, and trisialo-transferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399579012	A rare congenital disorder of glycosylation characterised by 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 tetrasialo- and increased asialo-, monosialo-, disialo, and trisialo-transferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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