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Charcot-Marie-Tooth disease type 4J

disorder
SNOMED 720638000CUI C1970011

Overview

Charcot-Marie-Tooth disease type 4J 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.

No development of motor milestones
Occasional (5-29%)HP:0001270
Ankle flexion contracture
HP:0006466
Areflexia
HP:0001284
Axonal loss
HP:0003447
Decreased motor nerve conduction velocity
HP:0003431
Decreased nerve conduction velocity
HP:0000762
Distal arthrogryposis
HP:0005684
Frequent falls
HP:0002359
Gait disturbance
HP:0001288
Hyporeflexia
HP:0001265
Loss of distal sensation
HP:0002936
Onion bulb formation
HP:0003383
Peripheral hypomyelination
HP:0007182
Weakness of outermost muscles
HP:0002460

Quick Facts

SNOMED CT
720638000
UMLS CUI
C1970011
Fully Specified Name
Charcot-Marie-Tooth disease type 4J (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
14
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.