| bètamannosidose (aandoening) | | bètamannosidose | | Beta-D-mannosidosis | | Beta-mannosidase deficiency
| | A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. |
| | Id | 238047006 | | 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 | 118 |
| 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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