Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

disorder

SNOMED 725047007CUI C1842983

Overview

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness 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.

Axonal loss

Very frequent (80-99%)HP:0003447

Chronic axonal neuropathy

Very frequent (80-99%)HP:0007267

Decreased number of small peripheral myelinated nerve fibers

Very frequent (80-99%)HP:0007249

Distal muscle weakness in lower limbs

Very frequent (80-99%)HP:0009053

Distal upper limb muscle weakness

Very frequent (80-99%)HP:0008959

Impaired pain sensation

Very frequent (80-99%)HP:0007328

Impaired vibratory sensation

Very frequent (80-99%)HP:0002495

Loss of distal sensation

Very frequent (80-99%)HP:0002936

Loss of tactile sensation

Very frequent (80-99%)HP:0010830

Muscle wasting

Very frequent (80-99%)HP:0003202

Nerve damage causing decreased feeling and movement

Very frequent (80-99%)HP:0007141

Peripheral axonal degeneration

Very frequent (80-99%)HP:0000764

Peripheral demyelination

Very frequent (80-99%)HP:0011096

Proximal muscle weakness in lower limbs

Very frequent (80-99%)HP:0008994

Proximal muscle weakness in upper limbs

Very frequent (80-99%)HP:0008997

Abnormality of the vertebral column

Frequent (30-79%)HP:0000925

Areflexia

Frequent (30-79%)HP:0001284

Clumsy tandem walking

Frequent (30-79%)HP:0031629

Clusters of axonal regeneration

Frequent (30-79%)HP:0007233

Diminished deep tendon reflexes

Frequent (30-79%)HP:0001315

Flexion contractures

Frequent (30-79%)HP:0001371

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Frequent falls

Frequent (30-79%)HP:0002359

Hand muscle weakness

Frequent (30-79%)HP:0030237

Hoarse voice due to vocal cord paresis

Frequent (30-79%)HP:0001604

Husky voice

Frequent (30-79%)HP:0001609

Impaired distal proprioception

Frequent (30-79%)HP:0006858

Intrinsic hand muscle atrophy

Frequent (30-79%)HP:0008954

Loss of ambulation

Frequent (30-79%)HP:0002505

Peroneal muscle weakness

Frequent (30-79%)HP:0011727

Related Conditions

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

Quick Facts

SNOMED CT: 725047007
UMLS CUI: C1842983
Fully Specified Name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.