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galactose-1-fosfaat-uridyltransferasedeficiëntie (aandoening)
galactose-1-fosfaat-uridyltransferasedeficiëntie
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Classical galactosemia
GALT deficiency
Deficiency of galactose-1-phosphate uridyl transferase
Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase
Deficiency of hexose-1-phosphate uridylyltransferase
Transferase deficiency galactosemia
Deficiency of uridyl transferase
Id124354006
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE74.2
TermStoornissen van galactosemetabolisme
SNOMED CT to Orphanet simple map79239
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE
CorrelationSNOMED CT source code to target map code correlation not specified