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. |
| Id | 718219002 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G31.8 | Term | Overige gespecificeerde degeneratieve ziekten van zenuwstelsel |
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SNOMED CT to Orphanet simple map | 70472 |
SNOMED CT to ICD-10 extended map | Target | G31.8 | Rule | TRUE | Advice | ALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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