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deficiëntie van delta-4-3-oxosteroïde-5-bètareductase (aandoening)
deficiëntie van delta-4-3-oxosteroïde-5-bètareductase
delta-4-3-oxosteroïde-5-bètareductasedeficiëntie
Delta-4-3-oxosteroid-5-beta-reductase deficiency
Congenital bile acid synthesis defect type 2
An anomaly of bile acid synthesis with characteristics of severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Patients present with neonatal cholestasis and rapid progression to cirrhosis and death in infancy without intervention. Caused by a mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1, 7q32-q33). Transmission is autosomal recessive.
Id238035000
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE78.8
TermOverige gespecificeerde stofwisselingsstoornissen van lipoproteïnen
SNOMED CT to Orphanet simple map79303
SNOMED CT to ICD-10 extended map
TargetE78.8
RuleTRUE
AdviceALWAYS E78.8
CorrelationSNOMED CT source code to target map code correlation not specified