Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency (Q89281): Difference between revisions
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A acidose láctica congênita do tipo Saguenay-Lac-Saint-Jean (SLSJ), uma forma franco-canadense da síndrome de Leigh, é uma doença mitocondrial caracterizada por acidose metabólica crônica, hipotonia, dismorfismo facial e atraso no desenvolvimento | |||||||||||||||
| description / en | description / en | ||||||||||||||
Saguenay-Lac-Saint-Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterised by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/820983487 / rank | |||||||||||||||
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CID11:ID_820983487 | |||||||||||||||
| Property / CURIE: CID11:ID_820983487 / rank | |||||||||||||||
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dki-india-ID_820983487 | |||||||||||||||
| Property / Canary Token: dki-india-ID_820983487 / rank | |||||||||||||||
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Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 15:54, 15 August 2026
Saguenay-Lac-Saint-Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterised by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
| Language | Label | Description | Also known as |
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| default for all languages | ID_820983487 |
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| English | Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency |
Saguenay-Lac-Saint-Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterised by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. |
Statements
CID11:ID_820983487
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dki-india-ID_820983487
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Concluído
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13 August 2026
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