Autosomal dominant Charcot-Marie-Tooth disease type 2I

disorder

SNOMED 717013009CUI C3888087

Overview

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

Absent tendon reflexes

HP:0001284

Axonal degeneration/regeneration

HP:0003378

Cavus foot

HP:0001761

Decreased number of large and small myelinated fibres

HP:0003380

Distal limb muscle weakness due to peripheral neuropathy

HP:0002460

Distal muscle atrophy, upper and lower limbs

HP:0003693

Hyporeflexia

HP:0001265

Loss of distal sensation

HP:0002936

Steppage gait

HP:0003376

Upper limb muscle weakness

HP:0003484

Related Conditions

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

Quick Facts

SNOMED CT: 717013009
UMLS CUI: C3888087
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2I (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.