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X-linked distal hereditary motor neuropathy type 3
disorderSNOMED 766764008CUI C1845359
Overview
X-linked distal hereditary motor neuropathy type 3 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.
Loss of distal sensation
Occasional (5-29%)HP:0002936
Abnormal peripheral nervous system morphology
HP:0000759
Cavus foot
HP:0001761
Distal limb muscle weakness due to peripheral neuropathy
HP:0002460
Distal muscle atrophy, upper and lower limbs
HP:0003693
EMG: neuropathic changes
HP:0003445
Hyporeflexia
HP:0001265
Spinal muscle wasting
HP:0007269
Unsteady walk
HP:0002317
Quick Facts
- SNOMED CT
- 766764008
- UMLS CUI
- C1845359
- Fully Specified Name
- X-linked distal spinal muscular atrophy type 3 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 9
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.