ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C52 — Inborn errors of lipid metabolism
5C52.1 — Inborn errors of sterol metabolism
5C52.11 — Bile acid synthesis defect with cholestasis
ICD-11 5C52.11 — Bile acid synthesis defect with cholestasis
Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Eight inborn errors have been clearly identified, 7 of which lead to liver cholestasis and include: 3-beta-hydroxy-C27-steroid oxidoreductase deficiency (type 1), delta4-3-oxosteriod-5-beta reductase deficiency (type 2), oxysterol 7alpha-hydroxylase deficiency (type 3), 2-methylacyl-CoA racemase deficiency (type 4), bile acid CoA ligase deficiency, and cerebrotendinous xanthomatosis. Cholesterol 7alpha-hydroxylase deficiency leads to hypercholesterolaemia without liver cholestasis.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: