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

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\...
• \Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I\Hereditary sensory and autonomic neuropathy type 1B
• \Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I\Hereditary sensory and autonomic neuropathy type 1B
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary sensory and autonomic neuropathy type 1B
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I\Hereditary sensory and autonomic neuropathy type 1B
• \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\Hereditary sensory and autonomic neuropathy type 1B
• \Disorder of body system\Neurological disorder\Neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I\Hereditary sensory and autonomic neuropathy type 1B
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I\Hereditary sensory and autonomic neuropathy type 1B
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I\Hereditary sensory and autonomic neuropathy type 1B
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I\Hereditary sensory and autonomic neuropathy type 1B
• \Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder\Hereditary sensory and autonomic neuropathy\Hereditary sensory and autonomic neuropathy type I\Hereditary sensory and autonomic neuropathy type 1B

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3323641011	Hereditary sensory and autonomic neuropathy type 1B	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323642016	Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux	en	Synonym	Active	Case insensitive	SNOMED CT core
3323643014	Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux	en	Synonym	Active	Case insensitive	SNOMED CT core
3323644015	HSAN1B - hereditary sensory and autonomic neuropathy type 1B	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start