128207002: Giant axonal neuropathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Axonal neuropathy\Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Axonal neuropathy\Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Axonal neuropathy\Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5444758013	Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterised by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5444759017	Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
206449013	Giant axonal neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732172013	Giant axonal neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
893851000172112	neuropathie à axones géants	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3454301001000110	Riesenaxon-Neuropathie	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)

Back to Start