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 | 718219002 |
Code System Concept Name | Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) |
Code System Preferred Concept Name | Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (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Superseded By Concept | |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 | 07/31/2016 |
SDO Date Created | 07/31/2016 |
SDO Date Revised | 07/31/2016 |
Description | A mitochondrial disease, a French Canadian form of Leigh syndrome, with characteristics of chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) in this region the prevalence of the gene mutation underlying the disorder is estimated to be 1/23 inhabitants and may be due to a founder effect. There are 3 forms of the disease corresponding to varying degrees of severity: a neonatal form, a classic form and a so-called survivor form. Survivor form describes those who have survived several episodes, cross a critical threshold and show less severe symptoms. Caused by two types of mutations in the LRPPRC gene (2p21). The disease follows a monogenic autosomal recessive pattern of inheritance. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3310362017 | Congenital lactic acidosis Saguenay-Lac-Saint-Jean type | Active | Synonym | false | false |
3311561017 | Leigh syndrome French-Canadian type | Active | Synonym | false | false |
3311562012 | Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type | Active | Synonym | false | false |
3311563019 | Cytochrome C oxidase deficiency French-Canadian type | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
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Other Relationships
No other relationships present.
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Child Concepts
No child concepts present.
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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: