Autosomal dominant medullary cystic kidney disease without hyperuricemia

disorder

SNOMED 726017001CUI C1868139

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cerebral cortex atrophy

HP:0002120

Corticomedullary renal cysts

HP:0000108

Decreased glomerular filtration rate

HP:0012213

Disintegration of the tubular basement membrane

HP:0005583

End-stage renal disease

HP:0003774

Glomerulosclerosis

HP:0000096

Gouty arthritis

HP:0001997

High blood pressure

HP:0000822

Hyperuricaemia

HP:0002149

Hypotension

HP:0002615

Increased creatinine

HP:0003259

Low number of red blood cells or hemoglobin

HP:0001903

Renal cortical atrophy

HP:0002048

Renal tubular cell atrophy

HP:0000092

Salt wasting

HP:0000127

Small kidneys

HP:0000089

Tubulointerstitial nephritis

HP:0001970

Tubulointerstitial renal fibrosis

HP:0005576

Uric acid fractional excretion decreased

HP:0004732

Related Conditions

Autosomal dominant medullary cystic kidney disease(parent)

Quick Facts

SNOMED CT: 726017001
UMLS CUI: C1868139
Fully Specified Name: Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.