Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased visual acuity
Always present (100%)HP:0007663
Increased creatinine
Always present (100%)HP:0003259
Progressive renal failure
Always present (100%)HP:0012622
Optic nerve dysplasia
Very frequent (80-99%)HP:0001093
Renal insufficiency
Very frequent (80-99%)HP:0000083
Blood in urine
Frequent (30-79%)HP:0000790
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Decreased body height
Frequent (30-79%)HP:0004322
Dysplastic kidneys
Frequent (30-79%)HP:0000110
End-stage renal disease
Frequent (30-79%)HP:0003774
High blood pressure
Frequent (30-79%)HP:0000822
Mild proteinuria
Frequent (30-79%)HP:0012595
Near sighted
Frequent (30-79%)HP:0000545
Poor vision
Frequent (30-79%)HP:0000505
Severe myopia
Frequent (30-79%)HP:0011003
Small kidneys
Frequent (30-79%)HP:0000089
VUR
Frequent (30-79%)HP:0000076
Abnormal rotation of the kidneys
Occasional (5-29%)HP:0004712
Absence of renal corticomedullary differentiation
Occasional (5-29%)HP:0005564
Completely dislocated lens
Occasional (5-29%)HP:0012019
Edema
Occasional (5-29%)HP:0000969
Fused kidneys
Occasional (5-29%)HP:0000085
Hole in the back of the eye
Occasional (5-29%)HP:0000480
Hypoacusis
Occasional (5-29%)HP:0000365
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Kidney stones
Occasional (5-29%)HP:0000787
Lens opacities
Occasional (5-29%)HP:0000518
Macular hyperpigmentation
Occasional (5-29%)HP:0011509
Optic disc coloboma
Occasional (5-29%)HP:0000588
Pigmented macular degeneration
Occasional (5-29%)HP:0000608
Quick Facts
- SNOMED CT
- 446449009
- UMLS CUI
- C1852759
- Fully Specified Name
- Renal coloboma syndrome (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.