Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Very frequent (80-99%)HP:0004322
Enlarged liver
Very frequent (80-99%)HP:0002240
Haemorrhagic disorders
Very frequent (80-99%)HP:0001928
Intellectual impairment
Very frequent (80-99%)HP:0100543
Intestinal malabsorption
Very frequent (80-99%)HP:0002024
Large spleen
Very frequent (80-99%)HP:0001744
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Slowed or blocked flow of bile from liver
Very frequent (80-99%)HP:0001396
Yellowing of the skin
Very frequent (80-99%)HP:0000952
Decreased bone mineral density Z score
Frequent (30-79%)HP:0004349
Low blood calcium levels
Frequent (30-79%)HP:0002901
Retarded ossification
Frequent (30-79%)HP:0002750
Thrombasthenia
Frequent (30-79%)HP:0001872
Oncology
Occasional (5-29%)HP:0002664
Related Conditions
Progressive familial intrahepatic cholestasis type 2(child)
Byler syndrome(child)
Progressive familial intrahepatic cholestasis type 3(child)
North American Indian childhood cirrhosis(child)
PFIC4 - progressive familial intrahepatic cholestasis type 4(child)
Digestive system hereditary disorder(parent)
Disease of biliary system(parent)
Disorder of bilirubin metabolism(parent)
Chronic liver disease(parent)
Recessive hereditary disorder (autosomal)(parent)
Chronic metabolic disease(parent)
Metabolic and genetic disorder affecting the liver(parent)
Quick Facts
- SNOMED CT
- 74162007
- UMLS CUI
- C0268312
- Fully Specified Name
- Progressive intrahepatic cholestasis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.