Deficiency of hypoxanthine-guanine phosphoribosyltransferase

disorder

SNOMED 124275001CUI C5848153

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Related Conditions

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency(child)

Lesch-Nyhan syndrome(child)

Deficiency of transferase(parent)

Quick Facts

SNOMED CT: 124275001
UMLS CUI: C5848153
Fully Specified Name: Deficiency of hypoxanthine phosphoribosyltransferase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0

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.