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Progressive familial intrahepatic cholestasis type 3
disorderSNOMED 1186865008CUI C1865643
Overview
Progressive familial intrahepatic cholestasis 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.
Cirrhosis
Always present (100%)HP:0001394
Diarrhea
Always present (100%)HP:0002014
Elevated gamma-glutamyltransferase level
Always present (100%)HP:0030948
Enlarged liver
Always present (100%)HP:0002240
Large spleen
Always present (100%)HP:0001744
Portal fibrosis shown on biopsy
Always present (100%)HP:0006580
Skin itching
Always present (100%)HP:0000989
Subclinical abnormal liver function tests
Always present (100%)HP:0002910
Yellowing of the skin
Always present (100%)HP:0000952
Ascites
Frequent (30-79%)HP:0001541
Increased serum bile acid concentration
Frequent (30-79%)HP:0012202
Portal inflammation
Frequent (30-79%)HP:0033196
Proliferation of bile canaliculi
Frequent (30-79%)HP:0001408
Intestinal malabsorption
HP:0002024
Intrahepatic cholestasis
HP:0001406
Related Conditions
Quick Facts
- SNOMED CT
- 1186865008
- UMLS CUI
- C1865643
- Fully Specified Name
- Progressive familial intrahepatic cholestasis type 3 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.