Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

disorder

SNOMED 770759001CUI C4749463

Overview

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F 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

Hammertoe

Always present (100%)HP:0001765

Lower limb atrophy

Always present (100%)HP:0008944

Onion bulb formation

Always present (100%)HP:0003383

Peripheral demyelination

Always present (100%)HP:0011096

Absent Achilles reflex

Very frequent (80-99%)HP:0003438

Absent patellar reflexes

Very frequent (80-99%)HP:0006844

Impaired pain sensation

Frequent (30-79%)HP:0007328

Impaired vibratory sensation

Frequent (30-79%)HP:0002495

Steppage gait

Frequent (30-79%)HP:0003376

Distal upper limb amyotrophy

Occasional (5-29%)HP:0007149

Distal upper limb muscle weakness

Occasional (5-29%)HP:0008959

Axonal regeneration

HP:0003450

Hyporeflexia

HP:0001265

Loss of distal sensation

HP:0002936

Pes cavus

HP:0001761

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary motor and sensory neuropathy(parent)

Quick Facts

SNOMED CT: 770759001
UMLS CUI: C4749463
Fully Specified Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.