Congenital hepatic fibrosis

disorder

SNOMED 79607001CUI C0009714

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.

Cystic kidney disease

Very frequent (80-99%)HP:0000107

Liver fibrosis

Very frequent (80-99%)HP:0001395

Echogenic kidneys

Frequent (30-79%)HP:0004719

High blood pressure

Frequent (30-79%)HP:0000822

Esophageal varix

Occasional (5-29%)HP:0002040

Hematemesis

Occasional (5-29%)HP:0002248

Large spleen

Occasional (5-29%)HP:0001744

Multiple small medullary renal cysts

Occasional (5-29%)HP:0008659

Absence of renal corticomedullary differentiation

HP:0005564

Dehydration

HP:0001944

Enlarged kidney

HP:0000105

Enlarged liver

HP:0002240

Liver cysts

HP:0001407

Oligohydramnios

HP:0001562

Pancreatic cyst

HP:0001737

Periportal fibrosis

HP:0001405

Polycystic kidney dysplasia

HP:0000113

Poorly developed lungs

HP:0002089

Portal hypertension

HP:0001409

Potter facies

HP:0002009

Renal failure in adulthood

HP:0000083

Tubulointerstitial scarring

HP:0005576

Related Conditions

Boichis disease(child)

Joubert syndrome with hepatic defect(child)

Hepatic fibrosis, renal cyst, intellectual disability syndrome(child)

Meckel syndrome type 7(child)

Congenital cystic disease of liver(child)

Caroli syndrome(child)

Congenital anomaly of liver(parent)

Hepatic fibrosis(parent)

Quick Facts

SNOMED CT: 79607001
UMLS CUI: C0009714
Fully Specified Name: Congenital hepatic fibrosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.