Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
CKD
Always present (100%)HP:0012622
Decreased urinary urate
Always present (100%)HP:0011935
Increased blood urea nitrogen
Always present (100%)HP:0003138
Increased serum parathyroid hormone
Always present (100%)HP:0003165
Metabolic acidosis
Always present (100%)HP:0001942
Renal insufficiency
Always present (100%)HP:0000083
Renal tubular cell atrophy
Always present (100%)HP:0000092
Stage 2 chronic kidney disease
Always present (100%)HP:0012624
Stage 3 chronic kidney disease
Always present (100%)HP:0012625
Stage 4 chronic kidney disease
Always present (100%)HP:0012626
Tubulointerstitial nephritis
Always present (100%)HP:0001970
Decreased glomerular filtration rate
Very frequent (80-99%)HP:0012213
Increased creatinine
Very frequent (80-99%)HP:0003259
Renal interstitial fibrosis
Very frequent (80-99%)HP:0032948
Corticomedullary renal cysts
Frequent (30-79%)HP:0000108
Cystic kidney disease
Frequent (30-79%)HP:0000107
End-stage renal disease
Frequent (30-79%)HP:0003774
Gout
Frequent (30-79%)HP:0001997
High blood pressure
Frequent (30-79%)HP:0000822
Hyperuricaemia
Frequent (30-79%)HP:0002149
Hyposthenuria
Frequent (30-79%)HP:0003158
Increased urine output
Frequent (30-79%)HP:0000103
Proteinuria
Frequent (30-79%)HP:0000093
Renal glomerular fibrosis
Frequent (30-79%)HP:0000096
Small kidneys
Frequent (30-79%)HP:0000089
Stage 1 chronic kidney disease
Frequent (30-79%)HP:0012623
Thickened glomerular basement membrane
Frequent (30-79%)HP:0004722
Blood in urine
Occasional (5-29%)HP:0000790
Echogenic kidneys
Occasional (5-29%)HP:0004719
Reduced renal corticomedullary differentiation
Occasional (5-29%)HP:0005565
Related Conditions
Familial disease(parent)
Visceral gout(parent)
Inflammatory disorder of genitourinary system(parent)
Kidney crystallization(parent)
Hyperuricemia(parent)
Articular gout(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary nephropathy(parent)
Quick Facts
- SNOMED CT
- 46785007
- UMLS CUI
- C4551496
- Fully Specified Name
- Familial juvenile hyperuricemic nephropathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.