1220574003: Component of oligomeric golgi complex 6-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\Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
• \Inherited metabolic disorder of nervous system\Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\...
• \Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
• \Inherited metabolic disorder of nervous system\Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\...
• \Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Carbohydrate-deficient glycoprotein syndrome type II\Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)
• \Inherited metabolic disorder of nervous system\Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5045220015	Component of oligomeric golgi complex 6-congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045221016	Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045222011	Congenital disorder of glycosylation type 2l	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5045223018	COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045224012	Congenital disorder of glycosylation type IIL	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5399952017	A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399953010	A rare congenital disorder of glycosylation characterised by neonatal onset of global developmental delay, hypotonia, failure to thrive, haematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045220015	Component of oligomeric golgi complex 6-congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045221016	Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045222011	Congenital disorder of glycosylation type 2l	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5045223018	COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045224012	Congenital disorder of glycosylation type IIL	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5045225013	A rare congenital disorder of glycosylation with characteristics of neonatal onset of global developmental delay, hypotonia, failure to thrive, haematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis or cirrhosis) and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy and enlarged ventricles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045226014	A rare congenital disorder of glycosylation with characteristics of neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis or cirrhosis) and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy and enlarged ventricles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399952017	A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399953010	A rare congenital disorder of glycosylation characterised by neonatal onset of global developmental delay, hypotonia, failure to thrive, haematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441051001000113	COG6-CGD	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3441051001000113	COG6-CGD	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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