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 |
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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 |
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