725078006: Congenital disorder of glycosylation type 1e (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 I\Congenital disorder of glycosylation type 1e (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital disorder of glycosylation type 1e (disorder)
• \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 I\Congenital disorder of glycosylation type 1e (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type I\Congenital disorder of glycosylation type 1e (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3438287019	Congenital disorder of glycosylation type 1e (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3438288012	Congenital disorder of glycosylation type 1e	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3438289016	Carbohydrate deficient glycoprotein syndrome type Ie	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3438290013	Dolichol-phosphate-mannose synthase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438291012	DPM1-CDG - dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403385012	A rare disorder of multiple glycosylation pathways characterized by global developmental delay, motor skills delay, hypotonia, seizures, microcephaly and eye abnormalities (including retinopathy, nystagmus, strabismus) with varying onset and severity. Additional clinical features may include peripheral neuropathy, dysmorphic features (facial and limb abnormalities), ataxia and severe gastrointestinal involvement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403386013	A rare disorder of multiple glycosylation pathways characterised by global developmental delay, motor skills delay, hypotonia, seizures, microcephaly and eye abnormalities (including retinopathy, nystagmus, strabismus) with varying onset and severity. Additional clinical features may include peripheral neuropathy, dysmorphic features (facial and limb abnormalities), ataxia and severe gastrointestinal involvement.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

GB English

US English

Back to Start