Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

disorder

SNOMED 765746008CUI C1842237

Overview

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 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

Always present (100%)HP:0001284

Decreased motor nerve conduction velocity

Always present (100%)HP:0003431

Decreased sensory NCV

Always present (100%)HP:0003448

Difficulty running

Always present (100%)HP:0009046

Distal limb muscle weakness due to peripheral neuropathy

Always present (100%)HP:0002460

Distal muscle atrophy, upper and lower limbs

Always present (100%)HP:0003693

Gait disturbance

Always present (100%)HP:0001288

Hand muscle weakness

Always present (100%)HP:0030237

Loss of distal sensation

Always present (100%)HP:0002936

Axonal regeneration

HP:0003450

Foot deformity

HP:0001760

Onion bulb formation

Excluded (<1%)HP:0003383

Upper limb muscle weakness

HP:0003484

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary motor and sensory neuropathy(parent)

Quick Facts

SNOMED CT: 765746008
UMLS CUI: C1842237
Fully Specified Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.