Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3310361012 | Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3310362017 | Congenital lactic acidosis Saguenay-Lac-Saint-Jean type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3311561017 | Leigh syndrome French-Canadian type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3311562012 | Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3311563019 | Cytochrome C oxidase deficiency French-Canadian type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3311565014 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 870221000172118 | acidose lactique congénitale type Saguenay-Lac-Saint-Jean | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 905701000172111 | déficit en COX type franco-canadien | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) | Is a | Leigh's disease | true | Inferred relationship | Some | ||
| Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) | Is a | Cytochrome-c oxidase deficiency | true | Inferred relationship | Some | ||
| Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) | Associated morphology | dégénérescence | false | Inferred relationship | Some | 2 | |
| Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 2 | |
| Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR