Autosomal dominant Charcot-Marie-Tooth disease type 2Q

disorder

SNOMED 773393001CUI C3554366

Overview

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

Distal muscle weakness in lower limbs

Always present (100%)HP:0009053

Hyporeflexia

Always present (100%)HP:0001265

Muscle degeneration

Always present (100%)HP:0003202

Pes cavus

Always present (100%)HP:0001761

Sensory impairment

Always present (100%)HP:0003474

Decreased distal vibration sense

Very frequent (80-99%)HP:0006886

Gait disturbance

HP:0001288

Related Conditions

Chronic nervous system disease(parent)

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

Quick Facts

SNOMED CT: 773393001
UMLS CUI: C3554366
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2Q (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.