719838008: X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\X-linked hereditary sensory and autonomic neuropathy with deafness (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\X-linked hereditary sensory and autonomic neuropathy with deafness (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\X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked hereditary sensory and autonomic neuropathy with deafness (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\X-linked hereditary sensory and autonomic neuropathy with deafness (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\X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Hereditary sensory and autonomic neuropathy\X-linked hereditary sensory and autonomic neuropathy with deafness (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\X-linked hereditary sensory and autonomic neuropathy with deafness (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\X-linked hereditary sensory and autonomic neuropathy with deafness (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\X-linked hereditary sensory and autonomic neuropathy with deafness (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\X-linked hereditary sensory and autonomic neuropathy with deafness (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
3318112017	X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318113010	X-linked hereditary sensory and autonomic neuropathy with deafness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318114016	X-linked auditory neuropathy with peripheral sensory neuropathy type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318115015	X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402253015	A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402254014	A rare peripheral neuropathy characterised by the association of an axonal sensory and autonomic neuropathy with hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318112017	X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318113010	X-linked hereditary sensory and autonomic neuropathy with deafness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318114016	X-linked auditory neuropathy with peripheral sensory neuropathy type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318115015	X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318846019	This syndrome has characteristics of axonal sensory and autonomic neuropathy with hearing loss. It has been described in a large five-generation Chinese family. Onset occurred in the second decade of life with mild to severe hearing impairment due to degeneration of the auditory nerve, followed by late-onset of a diffuse and progressive peripheral sensory neuropathy. The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3. Transmission was X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402253015	A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402254014	A rare peripheral neuropathy characterised by the association of an axonal sensory and autonomic neuropathy with hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3388311001000115	Hereditäre sensorische und autonome Neuropathie mit Taubheit, X-chromosomal	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
939751000172115	NHSA (neuropathie héréditaire sensitive et autonomique) avec surdité liée à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1012051000172112	neuropathie héréditaire sensitive et autonomique liée à l'X avec surdité	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
939751000172115	NHSA (neuropathie héréditaire sensitive et autonomique) avec surdité liée à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1012051000172112	neuropathie héréditaire sensitive et autonomique liée à l'X avec surdité	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3388311001000115	Hereditäre sensorische und autonome Neuropathie mit Taubheit, X-chromosomal	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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