Autosomal dominant Charcot-Marie-Tooth disease type 2V

disorder

SNOMED 1187618009CUI C5569050

Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2V 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.

Lower limb pain

Always present (100%)HP:0012514

Trouble sleeping

Very frequent (80-99%)HP:0002360

Hyporeflexia

Frequent (30-79%)HP:0001265

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

Sensory ataxia

Frequent (30-79%)HP:0010871

Involuntary, rapid, rhythmic eye movements

Excluded (<1%)HP:0000639

Loss of distal sensation

HP:0002936

Muscle weakness

Excluded (<1%)HP:0001324

Neuropathy

HP:0009830

Paresthesia

HP:0003401

Related Conditions

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

Quick Facts

SNOMED CT: 1187618009
UMLS CUI: C5569050
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.