| Lesch-Nyhan-syndroom (aandoening) | | Lesch-Nyhan-syndroom | | syndroom van Lesch-Nyhan
|  | Dit betekent dat je lichaam een bepaalde stof niet goed kan afbreken. Hierdoor hoopt deze stof zich op in je lichaam. Dit kan voor problemen zorgen. | | 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 |
| SNOMED CT to Orphanet simple map |
| DHD Diagnosis thesaurus reference set |
| 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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| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E79.1 | | Term | Syndroom van Lesch-Nyhan |
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