| fucosidose (aandoening) | | fucosidose |  | Dit betekent dat je lichaam bepaalde suikers niet goed kan afbreken. Hierdoor hopen deze suikers zich op in je lichaam. Dit kan voor problemen zorgen. | | Fucosidosis | | Alpha-L-fucosidase deficiency
Fucosidase deficiency
alpha-L-fucosidase deficiency
| | A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. |
| | Id | 64716005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E77.1 | | Term | Onvolledige glycoproteïneafbraak |
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| SNOMED CT to Orphanet simple map | 349 |
| SNOMED CT to ICD-10 extended map | | Target | E77.1 | | Rule | TRUE | | Advice | ALWAYS E77.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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