Deficiency of hypoxanthine oxidase

disorder

SNOMED 124147007CUI C0268118

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.

Increased circulating xanthine concentration

Always present (100%)HP:0010933

Low blood uric acid levels

Always present (100%)HP:0003537

Reduced circulating xanthine oxidase activity

Always present (100%)HP:6000218

Uric acid fractional excretion decreased

Always present (100%)HP:0004732

Hydronephrosis

HP:0000126

Myopathy

HP:0003198

Pyelonephritis

HP:0012330

Urinary xanthine stones

HP:0000804

Xanthine dehydrogenase deficiency

HP:0003534

Xanthinuria

HP:0010934

Related Conditions

Hereditary xanthinuria(child)

Specific enzyme deficiency(parent)

Metabolic renal disease(parent)

Disorder of purine and pyrimidine metabolism(parent)

Quick Facts

SNOMED CT: 124147007
UMLS CUI: C0268118
Fully Specified Name: Deficiency of xanthine oxidase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.