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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3687228018	NGLY1-congenital disorder of deglycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3687229014	Alacrimia, choreoathetosis, liver dysfunction syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3687230016	Deficiency of N-glycanase 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3687231017	N-glycanase 1 congenital disorder of deglycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404745014	A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404746010	A rare, genetic, inborn error of metabolism disorder characterised by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3687226019	N-glycanase 1 congenital disorder of deglycosylation (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3687228018	NGLY1-congenital disorder of deglycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3687229014	Alacrimia, choreoathetosis, liver dysfunction syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3687230016	Deficiency of N-glycanase 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3687231017	N-glycanase 1 congenital disorder of deglycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404745014	A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404746010	A rare, genetic, inborn error of metabolism disorder characterised by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3394641001000117	Alakrimie-Choreoathetose-Leberdysfunktion-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394641001000117	Alakrimie-Choreoathetose-Leberdysfunktion-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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

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