Phosphoribosylaminoimidazole carboxylase deficiency disorder

disorder

SNOMED 1367655003CUI C6010230

Overview

Phosphoribosylaminoimidazole carboxylase deficiency disorder is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Related Conditions

Disorder of purine metabolism(parent)

Developmental hereditary disorder(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 1367655003
UMLS CUI: C6010230
Fully Specified Name: Phosphoribosylaminoimidazole carboxylase deficiency disorder (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.