717825008: Hereditary sensory and autonomic neuropathy type 1B (disorder)

• SNOMED CT Concept\Clinical finding (finding)\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 type I (disorder)\Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).
• \Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I (disorder)\Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).
• \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 type I (disorder)\Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).
• \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 type I (disorder)\Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).
• \Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I (disorder)\Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).
• \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 type I (disorder)\Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).
• \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 type I (disorder)\Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).
• \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 type I (disorder)\Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).
• \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 type I (disorder)\Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).

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
3323640012	Hereditary sensory and autonomic neuropathy type 1B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323641011	Hereditary sensory and autonomic neuropathy type 1B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323642016	Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323643014	Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323644015	HSAN1B - hereditary sensory and autonomic neuropathy type 1B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401618016	Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401619012	Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323640012	Hereditary sensory and autonomic neuropathy type 1B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323641011	Hereditary sensory and autonomic neuropathy type 1B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323642016	Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323642016	Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323643014	Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323643014	Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323644015	HSAN1B - hereditary sensory and autonomic neuropathy type 1B	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323645019	Characterized by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastroesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastroesophageal reflux, and cough triggered by noxious odors or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323646018	Characterised by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastrooesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastrooesophageal reflux, and cough triggered by noxious odours or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401618016	Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401619012	Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterised by the association of type 1 HSAN with paroxysmal cough and gastro-oesophageal reflux (GOR).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3391011001000114	Neuropathie, autonome hereditäre sensorische, Typ 1B	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
916251000172114	neuropathie héréditaire sensitive et autonomique type 1B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967701000172115	NHSA avec toux et reflux gastrique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
916251000172114	neuropathie héréditaire sensitive et autonomique type 1B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967701000172115	NHSA avec toux et reflux gastrique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391011001000114	Neuropathie, autonome hereditäre sensorische, Typ 1B	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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

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