Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Concept
Code System Concept Code | 778060000 |
Code System Concept Name | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) |
Code System Preferred Concept Name | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (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Superseded By Concept | |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 neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent hemorrhagic and/or ischemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3737575019 | COL4A1-related familial vascular leukoencephalopathy | Active | Synonym | false | false |
3737576018 | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy | Active | Synonym | false | false |
3737577010 | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leukoencephalopathy syndrome | Active | Synonym | false | false |
3737578017 | COL4A1-related brain small vessel disease with hemorrhage | Active | Synonym | false | false |
3737579013 | COL4A1-related brain small vessel disease with haemorrhage | Active | Synonym | false | false |
3866559019 | COL4A1-related familial vascular leucoencephalopathy | Active | Synonym | false | false |
3866560012 | Collagen type IV alpha 1 chain related familial vascular leucoencephalopathy | Active | Synonym | false | false |
3866561011 | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leucoencephalopathy 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: