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Inosine triphosphate pyrophosphohydrolase deficiency

disorder
SNOMED 238011005CUI C0342800

Overview

Inosine triphosphate pyrophosphohydrolase deficiency 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.

Elevated erythrocyte inosine triphosphate concentration
Always present (100%)HP:6000510
Reduced erythrocyte inosine triphosphatase activity
Always present (100%)HP:6000511

Related Conditions

Disorder of purine metabolism(parent)

Quick Facts

SNOMED CT
238011005
UMLS CUI
C0342800
Fully Specified Name
Inosine triphosphate pyrophosphohydrolase deficiency (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
2
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.