Deficiency of transferase
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Deficiency of hypoxanthine phosphoribosyltransferase (disorder)
Deficiency of hypoxanthine phosphoribosyltransferase
Deficiency of hypoxanthine-guanine phosphoribosyltransferase
Deficiency of guanine phosphoribosyltransferase
Deficiency of IMP pyrophosphorylase
deficiëntie van hypoxanthinefosforibosyltransferase
deficiëntie van hypoxanthineguaninefosforibosyltransferase
Id124275001
StatusPrimitive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE79.1
RuleTRUE
AdviceALWAYS E79.1
CorrelationSNOMED CT source code to target map code correlation not specified
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Lesch-Nyhan syndrome
Lesch-Nyhan syndrome
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency