Autosomal recessive hereditary disorder
Disorder of cholesterol catabolism
Synthetic defect of bile acids
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3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
Congenital bile acid synthesis defect type 1
The most common anomaly of bile acid synthesis with characteristics of variable manifestations of progressive cholestatic liver disease and fat malabsorption. The clinical presentation is heterogeneous, however most patients present with features of neonatal cholestasis. The disease is caused by a mutation in the gene encoding 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase (HSD3B7, 16p12-p11.2). Transmission is autosomal recessive.
deficiëntie van 3-bèta-hydroxy-delta-5-C27-steroïdedehydrogenase
3-bèta-hydroxy-delta-5-C27-steroïdedehydrogenasedeficiëntie
Id238033007
StatusPrimitive
Finding siteLiver structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE78.8
RuleTRUE
AdviceALWAYS E78.8
CorrelationSNOMED CT source code to target map code correlation not specified