Constitutional mismatch repair deficiency syndrome due to PMS2 mutation

disorder

SNOMED 1356823008CUI C5970077

Overview

Constitutional mismatch repair deficiency syndrome due to PMS2 mutation is a disorder.

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

Related Conditions

CMMR-D (constitutional mismatch repair deficiency) syndrome(parent)

Quick Facts

SNOMED CT: 1356823008
UMLS CUI: C5970077
Fully Specified Name: Constitutional mismatch repair deficiency syndrome due to PMS1 homolog 2, mismatch repair system component mutation (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.