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\Glycoprotein metabolism disorder\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\Glycoprotein metabolism disorder\N-glycanase 1 congenital disorder of deglycosylation
• \Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\N-glycanase 1 congenital disorder of deglycosylation

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3687226019	N-glycanase 1 congenital disorder of deglycosylation (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3687228018	NGLY1-congenital disorder of deglycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3687229014	Alacrimia, choreoathetosis, liver dysfunction syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3687230016	Deficiency of N-glycanase 1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3687231017	N-glycanase 1 congenital disorder of deglycosylation	en	Synonym	Active	Case sensitive	SNOMED CT core
3687227011	An inherited disease with usual onset of signs in infancy. The severity of the signs and symptoms varies widely among people with the condition. Typical features include delayed development of speech and motor skills, hypotonia, choreoathetosis refractory seizures, problems with liver function, optic atrophy, alacrima. Caused by mutations in the NGLY1 gene. The enzyme produced from this gene N-glycanase 1, helps cells remove abnormal proteins. The gene mutation results in a severe reduction or absence of the enzyme function. Inherited in an autosomal recessive pattern.	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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