Lesch-Nyhan-syndroom (aandoening) | | Lesch-Nyhan-syndroom | | syndroom van Lesch-Nyhan
| | Lesch-Nyhan syndrome | | HGPRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Choreoathetosis self-mutilation syndrome Complete hypoxanthine-guanine phosphoribosyltransferase deficiency Total HGPRT deficiency X-linked hyperuricemia Lesch-Nyhan disease Complete HGPRT deficiency HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency
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| Id | 10406007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | E79.1 | Term | Syndroom van Lesch-Nyhan |
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SNOMED CT to Orphanet simple map | 510 |
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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