Familial hypoplastic, glomerulocystic kidney

disorder

SNOMED 253864004CUI C0431693

Overview

Familial hypoplastic, glomerulocystic kidney 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.

Hypoplastic pancreas

Very frequent (80-99%)HP:0002594

Multicystic kidney dysplasia

Very frequent (80-99%)HP:0000003

Pancreatic insufficiency

Very frequent (80-99%)HP:0001738

Renal anomalies

Very frequent (80-99%)HP:0000077

Renal insufficiency

Very frequent (80-99%)HP:0000083

Abnormal glucose tolerance

Frequent (30-79%)HP:0001952

Abnormality of alkaline phosphatase level

Frequent (30-79%)HP:0004379

Diabetes mellitus

Frequent (30-79%)HP:0000819

End-stage renal disease

Frequent (30-79%)HP:0003774

Glucose in urine

Frequent (30-79%)HP:0003076

Gout

Frequent (30-79%)HP:0001997

Increased creatinine

Frequent (30-79%)HP:0003259

Maturity onset diabetes of the young

Frequent (30-79%)HP:0004904

Pancreatic atrophy

Frequent (30-79%)HP:6000156

Proteinuria

Frequent (30-79%)HP:0000093

Renal cyst

Frequent (30-79%)HP:0000107

Abnormality of endocrine pancreas physiology

Occasional (5-29%)HP:0012093

Abnormality of exocrine pancreas physiology

Occasional (5-29%)HP:0012092

Absent ductus deferens

Occasional (5-29%)HP:0012873

Acute kidney failure

Occasional (5-29%)HP:0001919

Aplasia/Hypoplasia of the pancreas

Occasional (5-29%)HP:0100800

De toni-fanconi-debre syndrome

Occasional (5-29%)HP:0001994

Elevated liver enzymes

Occasional (5-29%)HP:0002910

Extreme thirst

Occasional (5-29%)HP:0001959

Fatty liver

Occasional (5-29%)HP:0001397

Genital abnormalities

Occasional (5-29%)HP:0000078

Glomerulopathy

Occasional (5-29%)HP:0100820

Hearing impairment

Occasional (5-29%)HP:0000365

Heart shaped uterus

Occasional (5-29%)HP:0000813

Horseshoe kidney

Occasional (5-29%)HP:0000085

Related Conditions

Congenital hypoplasia of kidney(parent)

Quick Facts

SNOMED CT: 253864004
UMLS CUI: C0431693
Fully Specified Name: Familial hypoplastic, glomerulocystic kidney (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.