Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
High urine uric acid level
Always present (100%)HP:0003149
Low blood uric acid levels
Always present (100%)HP:0003537
Renal cortical hyperechogenicity
Always present (100%)HP:0033132
Renal tubular epithelial necrosis
Always present (100%)HP:0008682
Uric acid stones
Always present (100%)HP:0000791
Uric acid wasting
Always present (100%)HP:6000746
Urolithiasis
Always present (100%)HP:0034368
Postexertional malaise
Very frequent (80-99%)HP:0030973
Acute kidney failure
Frequent (30-79%)HP:0001919
Increased creatinine
Frequent (30-79%)HP:0003259
Morphologic abnormality of the renal tubules
Frequent (30-79%)HP:0000091
Oliguria
Frequent (30-79%)HP:0100520
Proteinuria
Frequent (30-79%)HP:0000093
Renal functional abnormality
Frequent (30-79%)HP:0012211
Uric acid urolithiasis independent of gout
Frequent (30-79%)HP:0008651
Back pain
Occasional (5-29%)HP:0003418
CKD
Occasional (5-29%)HP:0012622
Decreased glomerular filtration rate
Occasional (5-29%)HP:0012213
High urine occult blood
Occasional (5-29%)HP:0000790
Hypercalciuria
Occasional (5-29%)HP:0002150
Increased blood urea nitrogen
Occasional (5-29%)HP:0003138
Mild proteinuria
Occasional (5-29%)HP:0012595
Nausea
Occasional (5-29%)HP:0002018
Vomiting
Occasional (5-29%)HP:0002013
Related Conditions
Quick Facts
- SNOMED CT
- 236478009
- UMLS CUI
- C4551590
- Fully Specified Name
- Familial renal hypouricemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.