Application Version: 4.0.6.9
Content Version: 2024.01.20
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User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 773415005 |
Code System Concept Name | Contiguous ABCD1 DXS1357E deletion syndrome (disorder) |
Code System Preferred Concept Name | Contiguous ABCD1 DXS1357E deletion 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Superseded By Concept | |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 | 01/31/2019 |
SDO Date Created | 01/31/2019 |
SDO Date Revised | 01/31/2019 |
Description | A rare genetic neurometabolic disease with characteristics of severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (for example blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed central nervous system myelination and ventriculomegaly). |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3723464011 | Contiguous ABCD1 DXS1357E deletion syndrome | Active | Synonym | false | false |
3723466013 | Zellweger-like contiguous gene deletion syndrome | Active | Synonym | false | false |
3723468014 | CADDS - contiguous ABCD1 DXS1357E deletion 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
- Message Guides
- Developer's Guide
Downloads
- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: