768846004: N-glycanase 1 congenital disorder of deglycosylation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\N-glycanase 1 congenital disorder of deglycosylation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\N-glycanase 1 congenital disorder of deglycosylation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\N-glycanase 1 congenital disorder of deglycosylation
• \Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\N-glycanase 1 congenital disorder of deglycosylation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3687226019	N-glycanase 1 congenital disorder of deglycosylation (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3687228018	NGLY1-congenital disorder of deglycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3687229014	Alacrimia, choreoathetosis, liver dysfunction syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3687230016	Deficiency of N-glycanase 1	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3687231017	N-glycanase 1 congenital disorder of deglycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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