| aspartylglucosaminurie (aandoening) | | aspartylglucosaminurie |  | Dit betekent dat je lichaam bepaalde eiwitten niet goed kan afbreken. Hierdoor hopen deze eiwitten zich op in je lichaam. Dit kan voor problemen zorgen. | | Aspartylglucosaminuria | | Aspartylglucosaminidase deficiency
Aspartylglycosaminuria
Aspartylglycosylaminase deficiency
| | A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. |
| | Id | 54954004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E77.1 | | Term | Onvolledige glycoproteïneafbraak |
|
| SNOMED CT to Orphanet simple map | 93 |
| SNOMED CT to ICD-10 extended map | | Target | E77.1 | | Rule | TRUE | | Advice | ALWAYS E77.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
