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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
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