Preferred Label : Congenital bile acid synthesis defect type 3;
ICD-11 definition : Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly
of bile acid synthesis characterized by severe neonatal cholestatic liver disease.
It pesents with severe progressive cholestasis, hepatosplenomegaly, coagulopathy,
cirrhosis and liver synthetic failure from early infancy.;
ICD-11 synonym : Oxysterol 7-alpha-hydroxylase deficiency;
Origin ID : 2022512995;
Currated CISMeF NLP mapping
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly
of bile acid synthesis characterized by severe neonatal cholestatic liver disease.
It pesents with severe progressive cholestasis, hepatosplenomegaly, coagulopathy,
cirrhosis and liver synthetic failure from early infancy.
