| hereditaire orootacidurie type 1 (aandoening) | | hereditaire orootacidurie type 1 | | erfelijke orootacidurie type 1
erfelijke orotische acidurietype 1
| | Hereditary orotic aciduria, type 1 | | Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency
Hereditary orotic aciduria type 1
OPRT AND OMP decarboxylase deficiency
Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency
UMPS - Uridine monophosphate synthase deficiency
UMP synthase deficiency
Uridine monophosphate synthase deficiency
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| | Id | 69525003 | | 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 ICD-10 extended map | | Target | E79.8 | | Rule | TRUE | | Advice | ALWAYS E79.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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