SMARCA2-related blepharophimosis, intellectual disability syndrome

disorder

SNOMED 1300198006CUI C5816784

Overview

SMARCA2-related blepharophimosis, intellectual disability syndrome is a disorder.

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

Related Conditions

Global developmental delay(parent)

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

Congenital blepharophimosis(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1300198006
UMLS CUI: C5816784
Fully Specified Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (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.