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
- RCMT Quick Search
Code System Concept
Code System Concept Code | 783787000 |
Code System Concept Name | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (disorder) |
Code System Preferred Concept Name | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (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Superseded By Concept | |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 | 07/31/2019 |
SDO Date Created | 07/31/2019 |
SDO Date Revised | 07/31/2019 |
Description | An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as well as variable cerebral dysfunction. There is evidence the disease is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3760372011 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | Active | Synonym | false | false |
3760374012 | RVCL - retinal vasculopathy cerebral leukoencephalopathy | Active | Synonym | false | false |
3760375013 | RVCL-S - retinal vasculopathy, cerebral leukoencephalopathy, systemic manifestations | Active | Synonym | false | false |
3866554012 | RVCL-S - retinal vasculopathy, cerebral leucoencephalopathy, systemic manifestations | Active | Synonym | false | false |
3866555013 | RVCL - retinal vasculopathy cerebral leucoencephalopathy | Active | Synonym | false | false |
3866556014 | Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations | 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: