Treatments & Interventions
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Belly bloating
Always present (100%)HP:0003270
Decreased muscle movement
Always present (100%)HP:0002375
Decreased nerve conduction velocity
Always present (100%)HP:0000762
Edema
Always present (100%)HP:0000969
Extrapyramidal syndrome
Always present (100%)HP:0002071
Face of the giant panda sign
Always present (100%)HP:0034254
Hepatic insufficiency
Always present (100%)HP:0001399
High blood bilirubin levels
Always present (100%)HP:0002904
High nonceruloplasmin-bound serum copper
Always present (100%)HP:0010838
Hypoalbuminaemia
Always present (100%)HP:0003073
Increased circulating copper concentration
Always present (100%)HP:0032254
Increased urinary copper concentration
Always present (100%)HP:0010839
Leg edema
Always present (100%)HP:0010741
Limb dystonia
Always present (100%)HP:0002451
Limb muscle weakness
Always present (100%)HP:0003690
Low blood uric acid levels
Always present (100%)HP:0003537
Malaise
Always present (100%)HP:0033834
Muscle rigidity
Always present (100%)HP:0002063
Parkinsonism with favorable response to dopaminergic medication
Always present (100%)HP:0002548
Portal fibrosis shown on biopsy
Always present (100%)HP:0006580
Sense of smell impaired
Always present (100%)HP:0004409
tremors in hands
Always present (100%)HP:0002378
Abnormal hands
Very frequent (80-99%)HP:0001155
Abnormal liver enzymes
Very frequent (80-99%)HP:0002910
Abnormality of the menstrual cycle
Very frequent (80-99%)HP:0000140
Acute liver failure
Very frequent (80-99%)HP:0006554
Acute liver inflammation
Very frequent (80-99%)HP:0200119
Alanine aminotransferase increased
Very frequent (80-99%)HP:0031964
Arthralgias
Very frequent (80-99%)HP:0002829
Back pain
Very frequent (80-99%)HP:0003418
Related Conditions
Chorea co-occurrent and due to Wilson disease(child)
Westphal-Strumpell syndrome(child)
Recessive hereditary disorder (autosomal)(parent)
Metabolic and genetic disorder affecting the liver(parent)
Disorder of copper metabolism(parent)
Digestive system hereditary disorder(parent)
Degenerative brain disorder(parent)
Hereditary degenerative disease of central nervous system(parent)
Chorea(parent)
Abnormal liver morphology(parent)
Quick Facts
- SNOMED CT
- 88518009
- UMLS CUI
- C0019202
- Fully Specified Name
- Wilson's disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Known Treatments
- 4
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.