717826009: Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323647010	Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323648017	Hereditary sensory and autonomic neuropathy with deafness and global delay	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323649013	HSAN (hereditary sensory and autonomic neuropathy) with deafness and global delay	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401620018	This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401621019	This syndrome is characterised by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323647010	Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323647010	Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323648017	Hereditary sensory and autonomic neuropathy with deafness and global delay	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323648017	Hereditary sensory and autonomic neuropathy with deafness and global delay	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323649013	HSAN (hereditary sensory and autonomic neuropathy) with deafness and global delay	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323650013	This syndrome has characteristics of sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. It has been described in four individuals from a consanguineous Lebanese family. Onset occurred in infancy with moderate developmental delay, hypotonia and areflexia. Other less constant findings included weakness, variable dysmorphic features, unsteadiness, and optic atrophy. Transmission appears to be autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401620018	This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401621019	This syndrome is characterised by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3415681001000117	Hereditäre sensorische und autonome Neuropathie mit Taubheit und allgemeiner Entwicklungsverzögerung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
876301000172118	NHSA avec surdité et retard de dévelopement	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
982101000172119	neuropathie héréditaire sensitive et autonomique avec surdité et retard de développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
876301000172118	NHSA avec surdité et retard de dévelopement	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
982101000172119	neuropathie héréditaire sensitive et autonomique avec surdité et retard de développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3415681001000117	Hereditäre sensorische und autonome Neuropathie mit Taubheit und allgemeiner Entwicklungsverzögerung	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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