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
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Giant axonal neuropathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Giant axonal neuropathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Giant axonal neuropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Axonal neuropathy\Giant axonal neuropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Giant axonal neuropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Axonal neuropathy\Giant axonal neuropathy

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
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
2884463016	An autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system with enlargement of axons	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777464012	An autosomal recessive condition characterised by progressive degeneration of the central and peripheral nervous system with enlargement of axons.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777465013	An autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system with enlargement of axons.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
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

Expanded Value Set

Reference Sets

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

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