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 | 735421004 |
Code System Concept Name | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) |
Code System Preferred Concept Name | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate 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Superseded By Concept | |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 | 01/31/2018 |
SDO Date Created | 01/31/2018 |
SDO Date Revised | 01/31/2018 |
Description | This disease has characteristics of progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. Onset occurs in early childhood. Epilepsy and cognitive decline have also been described. The syndrome is caused by mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase. Transmission is autosomal recessive. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3514490017 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome | Active | Synonym | false | false |
3514491018 | Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome | Active | Synonym | false | false |
3789587019 | Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome | Active | Synonym | false | false |
3789588012 | Leucoencephalopathy with brain stem and spinal cord involvement and high lactate 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: