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deficiëntie van galzuur-co-enzym A-ligase en defect van amidatie (aandoening)
deficiëntie van galzuur-co-enzym A-ligase en defect van amidatie
galzuur-CoA-ligasedeficiëntie en defect van amidatie
Bile acid CoA ligase deficiency and defective amidation
Bile acid coenzyme A ligase deficiency and defective amidation
Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.
Id717047007
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE88.8
TermOverige gespecificeerde stofwisselingsstoornissen
SNOMED CT to Orphanet simple map276066
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified