Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Concept
Code System Concept Code | 239059004 |
Code System Concept Name | Keratitis ichthyosis and deafness syndrome (disorder) |
Code System Preferred Concept Name | Keratitis ichthyosis and deafness syndrome (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Superseded By Concept | |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 | 01/31/2002 |
SDO Date Created | 01/31/2002 |
SDO Date Revised | 01/31/2002 |
Description | A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalised erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterised by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
1223177018 | Keratitis ichthyosis deafness syndrome | Active | Synonym | false | false |
1223178011 | Kid syndrome | Active | Synonym | false | false |
358254015 | Keratitis ichthyosis and deafness syndrome | Active | Synonym | false | false |
358255019 | KIDS - Keratitis ichthyosis and deafness syndrome | Active | Synonym | false | false |
5144589011 | KID syndrome | Active | Synonym | false | false |
5144590019 | Keratitis, ichthyosis, deafness/hystrix-like ichthyosis deafness syndrome | Active | Synonym | false | false |
5144593017 | Ichthyosis hystrix Rheydt type | Active | Synonym | false | false |
5144594011 | KID/HID syndrome | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
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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
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: