Boichis disease

disorder

SNOMED 717187000CUI C4274018

Overview

Boichis disease 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.

Abnormal renal insterstitial morphology

Frequent (30-79%)HP:0032581

Abnormal urinary electrolyte concentration

Frequent (30-79%)HP:0012591

Corticomedullary renal cysts

Frequent (30-79%)HP:0000108

Echogenic kidneys

Frequent (30-79%)HP:0004719

Elevated alkaline phosphatase

Frequent (30-79%)HP:0003155

Elevated liver enzymes

Frequent (30-79%)HP:0002910

Extreme thirst

Frequent (30-79%)HP:0001959

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

High blood pressure

Frequent (30-79%)HP:0000822

Increased total bilirubin

Frequent (30-79%)HP:0003573

Intrahepatic duct deficiency

Frequent (30-79%)HP:0006571

Liver fibrosis

Frequent (30-79%)HP:0001395

Malformation of the hepatic ductal plate

Frequent (30-79%)HP:0006563

Portal hypertension

Frequent (30-79%)HP:0001409

Progressive renal failure

Frequent (30-79%)HP:0012622

Reduced renal corticomedullary differentiation

Frequent (30-79%)HP:0005565

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Small kidneys

Frequent (30-79%)HP:0000089

Thickening of the tubular basement membrane

Frequent (30-79%)HP:0020132

Tubular luminal dilatation

Frequent (30-79%)HP:0032622

Carotid artery aneurysm

Occasional (5-29%)HP:0012163

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Cirrhosis

Occasional (5-29%)HP:0001394

Congenital hepatic fibrosis

Occasional (5-29%)HP:0002612

Cortical white matter abnormalities seen on MRI

Occasional (5-29%)HP:0002500

Decreased haemoglobin

Occasional (5-29%)HP:0001903

Diffuse cerebral atrophy

Occasional (5-29%)HP:0002506

End-stage renal disease

Occasional (5-29%)HP:0003774

Esophageal varix

Occasional (5-29%)HP:0002040

Kidney degeneration

Occasional (5-29%)HP:0012585

Related Conditions

Congenital hepatic fibrosis(parent)

Nephronophthisis(parent)

Fibrocystic kidney disease(parent)

Congenital anomaly of the kidney(parent)

Developmental hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Quick Facts

SNOMED CT: 717187000
UMLS CUI: C4274018
Fully Specified Name: Nephronophthisis hepatic fibrosis 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.