Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency

disorder

SNOMED 771307003CUI C4749824

Overview

Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency is a disorder.

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

Related Conditions

Chronic nervous system disease(parent)

Autosomal recessive Charcot-Marie-Tooth disease type 2(parent)

Quick Facts

SNOMED CT: 771307003
UMLS CUI: C4749824
Fully Specified Name: Charcot-Marie-Tooth disease type 2B5 (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.