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congenitale lactaatacidose type Saguenay-Lac-Saint-Jean (aandoening)
congenitale lactaatacidose type Saguenay-Lac-Saint-Jean
syndroom van Leigh Frans-Canadees type
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
Cytochrome C oxidase deficiency French-Canadian type
Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type
Leigh syndrome French-Canadian type
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.
Id718219002
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van encephalon
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8
CorrelationSNOMED CT source code to target map code correlation not specified