| deficiëntie van hypoxanthinefosforibosyltransferase (aandoening) | | deficiëntie van hypoxanthinefosforibosyltransferase | | deficiëntie van hypoxanthineguaninefosforibosyltransferase
| | Deficiency of hypoxanthine phosphoribosyltransferase | | Deficiency of hypoxanthine-guanine phosphoribosyltransferase
Deficiency of guanine phosphoribosyltransferase
Deficiency of IMP pyrophosphorylase
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| | Id | 124275001 | | 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 | 206428 |
| SNOMED CT to ICD-10 extended map | | Target | E79.1 | | Rule | TRUE | | Advice | ALWAYS E79.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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