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

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of 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 (disorder)

\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I (disorder)\Hereditary sensory and autonomic neuropathy type 1B (disorder)

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary sensory and autonomic neuropathy type 1B (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of 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 (disorder)
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I (disorder)\Hereditary sensory and autonomic neuropathy type 1B (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I (disorder)\Hereditary sensory and autonomic neuropathy type 1B (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of 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 (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I (disorder)\Hereditary sensory and autonomic neuropathy type 1B (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I (disorder)\Hereditary sensory and autonomic neuropathy type 1B (disorder)
\Disorder of body system\Disorder 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 (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

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

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

916251000172114 neuropathie héréditaire sensitive et autonomique type 1B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

967701000172115 NHSA avec toux et reflux gastrique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

947161000172110 erfelijke sensorische en autonome neuropathie type 1B nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

991291000172113 erfelijke sensorische en autonome neuropathie type 1 met hoest en gastro-oesofageale reflux nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary sensory and autonomic neuropathy type 1B (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy type 1B (disorder)	Is a	Hereditary sensory and autonomic neuropathy type I (disorder)	true	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy type 1B (disorder)	Finding site	Nerve structure	true	Inferred relationship	Some	1
Hereditary sensory and autonomic neuropathy type 1B (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Hereditary sensory and autonomic neuropathy type 1B (disorder)	Finding site	Autonomic nervous system structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
916251000172114	neuropathie héréditaire sensitive et autonomique type 1B	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
967701000172115	NHSA avec toux et reflux gastrique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
947161000172110	erfelijke sensorische en autonome neuropathie type 1B	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
991291000172113	erfelijke sensorische en autonome neuropathie type 1 met hoest en gastro-oesofageale reflux	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)