Autosomal dominant Charcot-Marie-Tooth disease type 2D

disorder

SNOMED 717011006CUI C1832274

Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2D 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 atrophy, upper and lower limbs

Always present (100%)HP:0003693

Amyotrophy involving the upper limbs

HP:0009129

Cold-induced hand cramps

HP:0003435

Distal limb muscle weakness due to peripheral neuropathy

HP:0002460

First dorsal interossei muscle atrophy

HP:0003426

First dorsal interossei muscle weakness

HP:0003392

Hammertoe

HP:0001765

Hyporeflexia

HP:0001265

Imbalance

HP:0002172

Loss of distal sensation

HP:0002936

Pes cavus

HP:0001761

Scoliosis

HP:0002650

Thenar muscle atrophy

HP:0003393

Thenar muscle weakness

HP:0003427

Upper limb muscle weakness

HP:0003484

Related Conditions

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

Quick Facts

SNOMED CT: 717011006
UMLS CUI: C1832274
Fully Specified Name: Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.