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Hereditary sensory and autonomic neuropathy, type V
disorderSNOMED 128206006CUI C0020075
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Impaired pain sensation
Always present (100%)HP:0007328
Peripheral neuropathy
Always present (100%)HP:0009830
Abnormality of the gingiva
Frequent (30-79%)HP:0000168
Absence of pain sensation
Frequent (30-79%)HP:0007021
Decreased number of small peripheral myelinated nerve fibers
Frequent (30-79%)HP:0007249
Dental anomalies
Frequent (30-79%)HP:0000164
Diarrhea
Frequent (30-79%)HP:0002014
Disease of the joints
Frequent (30-79%)HP:0003040
Dyschezia
Frequent (30-79%)HP:0002019
Enophthalmos
Frequent (30-79%)HP:0000490
Hypotrophic malar bone
Frequent (30-79%)HP:0000272
Impaired thermal sensitivity
Frequent (30-79%)HP:0010829
Impaired vibratory sensation
Frequent (30-79%)HP:0002495
Low back pain
Frequent (30-79%)HP:0003419
Mental retardation, mild
Frequent (30-79%)HP:0001256
Osteoarthritis
Frequent (30-79%)HP:0002758
Painless fractures due to injury
Frequent (30-79%)HP:0002661
Poor wound healing
Frequent (30-79%)HP:0001058
Recurrent fractures
Frequent (30-79%)HP:0002757
Septic arthritis
Frequent (30-79%)HP:0003095
Sweating dysfunction
Frequent (30-79%)HP:0000970
tremors in hands
Frequent (30-79%)HP:0002378
Urinary incontinence
Frequent (30-79%)HP:0000020
Intermittent fever
Occasional (5-29%)HP:0001954
Acral ulceration
HP:0006121
Bone infection
HP:0002754
Quick Facts
- SNOMED CT
- 128206006
- UMLS CUI
- C0020075
- Fully Specified Name
- Congenital sensory neuropathy with selective loss of small myelinated fibers (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.