Overview
Infantile nephronophthisis 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.
End-stage renal disease
Always present (100%)HP:0003774
High blood pressure
Frequent (30-79%)HP:0000822
Multiple renal cortical microcysts
Frequent (30-79%)HP:0004734
Situs inversus
Occasional (5-29%)HP:0001696
Absence of renal corticomedullary differentiation
HP:0005564
Chronic tubulointerstitial nephritis
HP:0004743
Decreased amniotic fluid index
HP:0001562
Echogenic kidneys
HP:0004719
Enlarged kidney
HP:0000105
Hyperkalemia
HP:0002153
Hyperkalemic metabolic acidosis
HP:0005976
Increased creatinine
HP:0003259
Nephronophthisis
HP:0000090
Poorly developed lungs
HP:0002089
Puolmonary valve insufficiency
HP:0010444
Respiratory failure
HP:0002878
Respiratory function loss
HP:0002093
Related Conditions
Quick Facts
- SNOMED CT
- 444558002
- UMLS CUI
- C1865872
- Fully Specified Name
- Infantile nephronophthisis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.