| ziekte van Tay-Sachs (aandoening) | | ziekte van Tay-Sachs |  | Dit betekent dat je lichaam bepaalde vetten niet goed kan afbreken. Deze vetten hopen zich op in je zenuwcellen. Daardoor werken je zenuwcellen steeds slechter. | | Tay-Sachs disease | | Infantile amaurotic familial disease
Hexosaminidase A deficiency
GM2 gangliosidosis, B, B1 variant
Amaurotic familial idiocy
Severe hexosaminidase A deficiency
|
| | Id | 111385000 | | Status | Primitive |
| PALGA thesaurus simple reference set for pathology |
| SNOMED CT to Orphanet simple map |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to ICD-10 extended map | | Target | E75.0 | | Rule | TRUE | | Advice | ALWAYS E75.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E75.0 | | Term | GM2-gangliosidose |
|
|
