Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 724278007 |
Code System Concept Name | Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) |
Code System Preferred Concept Name | Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis 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Superseded By Concept | |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 | 07/31/2017 |
SDO Date Created | 07/31/2017 |
SDO Date Revised | 07/31/2017 |
Description | A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3433518019 | Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome | Active | Synonym | false | false |
3433519010 | Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome | Active | Synonym | false | false |
3433520016 | NISCH (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome | Active | Synonym | false | false |
3433521017 | NISCH syndrome | 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
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- Developer's Guide
Downloads
- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: