Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T

disorder

SNOMED 1187128001CUI C4015635

Overview

Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T 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

Loss of distal sensation

Always present (100%)HP:0002936

Lower limb atrophy

Always present (100%)HP:0008944

Unsteady walk

Always present (100%)HP:0002317

Areflexia

HP:0001284

Inability to heel walk

HP:0009027

Nerve damage causing decreased feeling and movement

HP:0007141

Progressive dementia

Excluded (<1%)HP:0000726

Related Conditions

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

Quick Facts

SNOMED CT: 1187128001
UMLS CUI: C4015635
Fully Specified Name: Charcot-Marie-Tooth disease type 2T (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.