Synthetic defect of bile acids

Synthetic defect of bile acids (disorder)

active

Code	`235915002`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

BASD - Bile acid synthetic defect
Bile acid synthesis disorder
Bile acid synthetic defect
Disorder of bile acid synthesis
Inborn error of bile acid synthesis

Parents (5)

363080007Digestive system hereditary disorder disorder
42357009Disorder of digestive system specific to fetus OR newborn disorder
267431006Disorder of lipid metabolism disorder
86095007Inborn error of metabolism disorder
235903001Metabolic and genetic disorder affecting the liver disorder

Children (8)

2380330073-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency disorder
700463002Alpha-methylacyl-CoA racemase deficiency disorder disorder
717047007Bile acid CoA ligase deficiency and defective amidation disorder
63246000Cholestanol storage disease disorder
719454003Congenital bile acid synthesis defect type 3 disorder
238035000Delta-4-3-oxosteroid-5-beta-reductase deficiency disorder
723360007Familial hypercholanemia disorder
773726000Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency disorder