Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Concept
Code System Concept Code | 717825008 |
Code System Concept Name | Hereditary sensory and autonomic neuropathy type 1B (disorder) |
Code System Preferred Concept Name | Hereditary sensory and autonomic neuropathy type 1B (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 01/31/2017 |
SDO Date Created | 01/31/2017 |
SDO Date Revised | 01/31/2017 |
Description | 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. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3323641011 | Hereditary sensory and autonomic neuropathy type 1B | Active | Synonym | false | false |
3323642016 | Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux | Active | Synonym | false | false |
3323643014 | Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux | Active | Synonym | false | false |
3323644015 | HSAN1B - hereditary sensory and autonomic neuropathy type 1B | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
- Developer's Guide
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: