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congenitale lactaatacidose Saguenay-Lac-Saint-Jean-type (aandoening)
congenitale lactaatacidose Saguenay-Lac-Saint-Jean-type
syndroom van Leigh Frans-Canadees type
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
Cytochrome oxidase deficiency Saguenay-Lac-Saint-Jean type
Leigh syndrome French-Canadian type
Cytochrome C oxidase deficiency French-Canadian type
A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
Id718219002
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van encephalon
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG31.8
TermOverige gespecificeerde degeneratieve ziekten van zenuwstelsel
SNOMED CT to Orphanet simple map70472
SNOMED CT to ICD-10 extended map
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified