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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
Id10406007
StatusPrimitive
Global Patient Set
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE79.1
TermSyndroom van Lesch-Nyhan
SNOMED CT to Orphanet simple map510
SNOMED CT to ICD-10 extended map
TargetE79.1
RuleTRUE
AdviceALWAYS E79.1
CorrelationSNOMED CT source code to target map code correlation not specified