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deficiëntie van carnitinepalmitoyltransferase I (aandoening)
deficiëntie van carnitinepalmitoyltransferase I
carnitinepalmitoyltransferase-I-deficiëntie
Carnitine palmitoyltransferase I deficiency
Liver form of carnitine palmitoyltransferase deficiency
Carnitine palmitoyltransferase deficiency type 1
CPTI - Carnitine palmitoyltransferase deficiency type I
CPT1 - Carnitine palmitoyltransferase I deficiency
Id238001003
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE71.3
TermStoornissen van vetzuurmetabolisme
SNOMED CT to Orphanet simple map156
SNOMED CT to ICD-10 extended map
TargetE71.3
RuleTRUE
AdviceALWAYS E71.3
CorrelationSNOMED CT source code to target map code correlation not specified