Congenital bile acid synthesis defect type 3

disorder

SNOMED 719454003CUI C4304715

Overview

Congenital bile acid synthesis defect type 3 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormality of vitamin metabolism

Frequent (30-79%)HP:0100508

Alanine aminotransferase increased

Frequent (30-79%)HP:0031964

Cirrhosis

Frequent (30-79%)HP:0001394

Elevated alkaline phosphatase

Frequent (30-79%)HP:0003155

Elevated serum aspartate aminotransferase

Frequent (30-79%)HP:0031956

Fat malabsorption

Frequent (30-79%)HP:0002630

Hepatic failure

Frequent (30-79%)HP:0001399

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

High blood bilirubin levels

Frequent (30-79%)HP:0002904

Proliferation of bile canaliculi

Frequent (30-79%)HP:0001408

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Yellowing of the skin

Frequent (30-79%)HP:0000952

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Synthetic defect of bile acids(parent)

Quick Facts

SNOMED CT: 719454003
UMLS CUI: C4304715
Fully Specified Name: Congenital bile acid synthesis defect type 3 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.