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Hereditary sensory and autonomic neuropathy type II

disorder
SNOMED 398148000CUI C0020072

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 compact bone morphology
Very frequent (80-99%)HP:0003103
Abnormality of the ankle
Very frequent (80-99%)HP:0003028
Abnormality of the hips
Very frequent (80-99%)HP:0003272
Abnormality of the knee
Very frequent (80-99%)HP:0002815
Acroosteolysis of feet
Very frequent (80-99%)HP:0001842
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Breakdown of bone
Very frequent (80-99%)HP:0002797
Decreased bone mineral density Z score
Very frequent (80-99%)HP:0004349
Dystrophic fingernails
Very frequent (80-99%)HP:0008391
Dystrophic toenails
Very frequent (80-99%)HP:0001810
Extra bones within cranial sutures
Very frequent (80-99%)HP:0002645
Neurogenic muscle atrophy, especially in the lower limbs
Very frequent (80-99%)HP:0003202
Prominent swayback
Very frequent (80-99%)HP:0003307
Sweating
Very frequent (80-99%)HP:0000975
Tapering fingers
Very frequent (80-99%)HP:0001182

Quick Facts

SNOMED CT
398148000
UMLS CUI
C0020072
Fully Specified Name
Hereditary sensory and autonomic neuropathy type II (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
15
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.