Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

disorder

SNOMED 765747004CUI C1843075

Overview

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 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.

Areflexia

HP:0001284

Axonal degeneration/regeneration

HP:0003378

Distal limb muscle weakness due to peripheral neuropathy

HP:0002460

Distal muscle atrophy, upper and lower limbs

HP:0003693

Hyporeflexia

HP:0001265

Loss of distal sensation

HP:0002936

Segmental peripheral demyelination/remyelination

HP:0003481

Upper limb muscle weakness

HP:0003484

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary motor and sensory neuropathy(parent)

Quick Facts

SNOMED CT: 765747004
UMLS CUI: C1843075
Fully Specified Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.