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Polycystic kidney disease, infantile type

disorder
SNOMED 28770003CUI C0085548

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.

Enlarged kidney
Very frequent (80-99%)HP:0000105
High blood pressure
Very frequent (80-99%)HP:0000822
Liver fibrosis
Very frequent (80-99%)HP:0001395
Periportal fibrosis
Very frequent (80-99%)HP:0001405
Renal cyst
Very frequent (80-99%)HP:0000107
Abnormal intrahepatic bile duct morphology
Frequent (30-79%)HP:0011040
Bile duct hyperplasia
Frequent (30-79%)HP:0006560
Congenital hepatic fibrosis
Frequent (30-79%)HP:0002612
Deficient in vitamin D
Frequent (30-79%)HP:0100512
Echogenic kidneys
Frequent (30-79%)HP:0004719
Elevated gamma-glutamyltransferase level
Frequent (30-79%)HP:0030948
End-stage renal disease
Frequent (30-79%)HP:0003774
Esophageal varix
Frequent (30-79%)HP:0002040
Fat malabsorption
Frequent (30-79%)HP:0002630
Feeding difficulties
Frequent (30-79%)HP:0011968
Hypersplenism
Frequent (30-79%)HP:0001971
Hyponatremia
Frequent (30-79%)HP:0002902
Increased serum bile acid concentration
Frequent (30-79%)HP:0012202
Large spleen
Frequent (30-79%)HP:0001744
Low levels of vitamin A
Frequent (30-79%)HP:0004905
Low levels of vitamin K
Frequent (30-79%)HP:0011892
Oligohydramnios
Frequent (30-79%)HP:0001562
Poor growth
Frequent (30-79%)HP:0001510
Poorly developed lungs
Frequent (30-79%)HP:0002089
Portal hypertension
Frequent (30-79%)HP:0001409
Reduced renal corticomedullary differentiation
Frequent (30-79%)HP:0005565
Renal failure
Frequent (30-79%)HP:0000083
Respiratory failure
Frequent (30-79%)HP:0002878
Slowed or blocked flow of bile from liver
Frequent (30-79%)HP:0001396
Vitamin E deficiency
Frequent (30-79%)HP:0100513

Related Conditions

Congenital cystic kidney disease(parent)
Congenital anomaly of the kidney(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary nephropathy(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
28770003
UMLS CUI
C0085548
Fully Specified Name
Polycystic kidney disease, infantile type (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.