Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

disorder

SNOMED 765744006CUI C1847896

Overview

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 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 deep tendon reflexes

HP:0001284

Axonal degeneration/regeneration

HP:0003378

Hyporeflexia

HP:0001265

Limb muscle weakness

HP:0003690

Muscle wasting

HP:0003202

Onion bulb formation

HP:0003383

Peripheral axonal neuropathy

HP:0003477

Peripheral demyelination

HP:0011096

Sensory impairment

HP:0003474

Steppage gait

HP:0003376

Related Conditions

Hereditary motor and sensory neuropathy(parent)

Autosomal dominant hereditary disorder(parent)

Quick Facts

SNOMED CT: 765744006
UMLS CUI: C1847896
Fully Specified Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (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.