Primary hyperoxaluria, type I

disorder

SNOMED 65520001CUI C0268164

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.

Dehydration

Always present (100%)HP:0001944

Elevated urinary glycolic acid level

Always present (100%)HP:6000431

Elevated urinary oxoacetic acid level

Always present (100%)HP:6000702

Renal failure in adulthood

Always present (100%)HP:0000083

Abnormality of circulating enzyme level

Very frequent (80-99%)HP:0011021

Calcinosis

Very frequent (80-99%)HP:0003761

Decreased haemoglobin

Very frequent (80-99%)HP:0001903

Hyperoxaluria

Very frequent (80-99%)HP:0003159

Kidney stones

Very frequent (80-99%)HP:0000787

Metabolic acidosis

Very frequent (80-99%)HP:0001942

Nephrocalcinosis

Very frequent (80-99%)HP:0000121

Decreased glomerular filtration rate

Frequent (30-79%)HP:0012213

Dull burning sensation with urination

Frequent (30-79%)HP:0100518

High urine occult blood

Frequent (30-79%)HP:0000790

Undergrowth

Frequent (30-79%)HP:0001508

End-stage renal disease

Occasional (5-29%)HP:0003774

Enuresis

Occasional (5-29%)HP:0000805

Repeated bladder infections

Occasional (5-29%)HP:0000010

Skeletal anomalies

Occasional (5-29%)HP:0000924

Atherosclerotic cardiovascular disease

Very rare (1-4%)HP:0002621

Cerebral vascular events

Very rare (1-4%)HP:0001297

Dental anomalies

Very rare (1-4%)HP:0000164

Laboratory abnormality

Very rare (1-4%)HP:0001939

Arterial occlusion

HP:0025324

Atrioventricular nodal disease

HP:0001678

Bone pain

HP:0002653

Calcium oxalate kidney stones

HP:0008672

Choroidal neovascular membrane

HP:0011506

Cutaneous calcification

HP:0025520

Cutis marmorata

HP:0000965

Related Conditions

Primary hyperoxaluria(parent)

Loss of single peroxisomal function(parent)

Quick Facts

SNOMED CT: 65520001
UMLS CUI: C0268164
Fully Specified Name: Primary hyperoxaluria, type I (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.