Autosomal dominant Charcot-Marie-Tooth disease type 2B

disorder

SNOMED 717008005CUI C1833219

Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2B 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 Achilles reflex

Always present (100%)HP:0003438

Cavus foot

Always present (100%)HP:0001761

Decreased CMAP amplitude

Always present (100%)HP:0033383

Decreased motor nerve conduction velocity

Always present (100%)HP:0003431

Distal muscle weakness in lower limbs

Always present (100%)HP:0009053

Foot osteomyelitis

Always present (100%)HP:0001886

Impaired distal tactile sensation

Always present (100%)HP:0006937

Lower limb degeneration

Always present (100%)HP:0008944

Muscle fasciculation

Always present (100%)HP:0002380

Nerve damage causing decreased feeling and movement

Always present (100%)HP:0007141

Steppage gait

Always present (100%)HP:0003376

Absent tendon reflexes

HP:0001284

Autoamputation

HP:0001218

Autoamputation of foot

HP:0001868

Axonal degeneration/regeneration

HP:0003378

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

Dropped arches

HP:0001763

Dystrophic toenails

HP:0001810

Hammertoe

HP:0001765

Hyporeflexia

HP:0001265

Inability to heel walk

HP:0009027

Peripheral axonal atrophy

HP:0003384

Peripheral neuropathy

HP:0009830

Sensory impairment

HP:0003474

Sensory neuropathy

HP:0000763

Related Conditions

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

Quick Facts

SNOMED CT: 717008005
UMLS CUI: C1833219
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.