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Congenital bile acid synthesis defect type 3
disorderSNOMED 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
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.