| fosforibosylpyrofosfaat-synthetase-superactiviteit (aandoening) | | fosforibosylpyrofosfaat-synthetase-superactiviteit | | PRPP-synthetase-superactiviteit
| | Phosphoribosylpyrophosphate synthetase superactivity | | Phosphoribosyl pyrophosphate synthetase superactivity
| | A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. |
| | Id | 723454008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E79.8 | | Term | Overige gespecificeerde stoornissen van purine- en pyrimidinemetabolisme |
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| SNOMED CT to Orphanet simple map | 3222 |
| SNOMED CT to ICD-10 extended map | | Target | E79.8 | | Rule | TRUE | | Advice | ALWAYS E79.8 | 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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