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 | 771515001 |
Code System Concept Name | Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder) |
Code System Preferred Concept Name | Facial dysmorphism, immunodeficiency, livedo, short stature 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Superseded By Concept | |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 disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3706580018 | FILS syndrome | Active | Synonym | false | false |
3706581019 | FILS (facial dysmorphism, immunodeficiency, livedo, short stature ) syndrome | Active | Synonym | false | false |
3706582014 | Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Active | Synonym | false | false |
3780948015 | FILS (facial dysmorphism, immunodeficiency, livedo, short stature) 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
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: