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Swanson-Buchanan-Alvord neuropathy syndrome

disorder
SNOMED 62985007CUI C0020074

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal peripheral nerve transmission
Very frequent (80-99%)HP:0003134
Absence of pain sensation
Very frequent (80-99%)HP:0007021
Absent sweat glands
Very frequent (80-99%)HP:0011136
Bone infection
Very frequent (80-99%)HP:0002754
Impaired thermal sensitivity
Very frequent (80-99%)HP:0010829
Mental-retardation
Very frequent (80-99%)HP:0001249
Self-mutilation
Very frequent (80-99%)HP:0000742
Staphylococcus aureus infections, recurrent
Very frequent (80-99%)HP:0002726
Sweating dysfunction
Very frequent (80-99%)HP:0000970
Abnormality of lower limb joint
Frequent (30-79%)HP:0100491
Abscess
Frequent (30-79%)HP:0025615
Atypical scarring
Frequent (30-79%)HP:0000987
Charcot joint
Frequent (30-79%)HP:0002821
Defective humoral immunity
Frequent (30-79%)HP:0005368
Dry skin
Frequent (30-79%)HP:0000958
Emotional lability
Frequent (30-79%)HP:0000712
Fasciitis
Frequent (30-79%)HP:0100537
Gait disturbance
Frequent (30-79%)HP:0001288
Intermittent fever
Frequent (30-79%)HP:0001954
Lichenification
Frequent (30-79%)HP:0100725
Nail-biting
Frequent (30-79%)HP:0012170
Painless fractures due to injury
Frequent (30-79%)HP:0002661
Premature exfoliation of teeth
Frequent (30-79%)HP:0006480
Specific learning disability
Frequent (30-79%)HP:0001328
Trophic limb changes
Frequent (30-79%)HP:0003091
Abnormal emotion processing
Occasional (5-29%)HP:0100851
Abnormal lumbar spine morphology
Occasional (5-29%)HP:0100712
Abnormality of the ankle
Occasional (5-29%)HP:0003028
Abnormality of the autonomic nervous system
Occasional (5-29%)HP:0002270
Abnormality of the hips
Occasional (5-29%)HP:0003272

Quick Facts

SNOMED CT
62985007
UMLS CUI
C0020074
Fully Specified Name
Hereditary insensitivity to pain with anhidrosis (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.