Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

disorder

SNOMED 765745007CUI C1847902

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Distal muscle atrophy, upper and lower limbs

Always present (100%)HP:0003693

Weakness of outermost muscles

Always present (100%)HP:0002460

Segmental peripheral demyelination

Occasional (5-29%)HP:0007107

Absent deep tendon reflexes

HP:0001284

Axonal degeneration

HP:0040078

Decreased number of large and small myelinated fibres

HP:0003380

Hyporeflexia

HP:0001265

Loss of distal sensation

HP:0002936

Onion bulb formation

HP:0003383

Peripheral axonal degeneration

HP:0000764

Pes cavus

HP:0001761

Segmental peripheral demyelination/remyelination

HP:0003481

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary motor and sensory neuropathy(parent)

Quick Facts

SNOMED CT: 765745007
UMLS CUI: C1847902
Fully Specified Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.