deficiëntie van porfobilinogeensynthase (aandoening) | | deficiëntie van porfobilinogeensynthase | | porfobilinogeensynthetasedeficiëntie
| | Porphobilinogen synthase deficiency | | Acute hepatic porphyria Hereditary delta-aminolevulinic aciduria Porphyria due to delta-aminolevulinate dehydratase deficiency Porphyria of Doss ALAD deficiency ALA dehydratase deficiency porphyria ALADH deficiency Delta-aminolevulinate dehydrase deficiency
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| Id | 64081000 | 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 | 100924 |
SNOMED CT to ICD-10 extended map | Target | E80.2 | Rule | TRUE | Advice | ALWAYS E80.2 | Correlation | SNOMED CT source code to target map code correlation not specified |
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