Hereditary sensory autonomic neuropathy type IE

disorder

SNOMED 860812002CUI C3279885

Overview

Hereditary sensory autonomic neuropathy type IE 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.

Sensory neuropathy

Always present (100%)HP:0000763

Deafness

Very frequent (80-99%)HP:0000365

Ataxia

Occasional (5-29%)HP:0001251

Distal limb muscle weakness due to peripheral neuropathy

Occasional (5-29%)HP:0002460

Altered consciousness or cognition

HP:0031258

Bone infection

HP:0002754

Decreased number of large and small myelinated fibres

HP:0003380

Excessive daytime somnolence

HP:0001262

Hyporeflexia

HP:0001265

Impulsivity

HP:0100710

Irritable mood

HP:0000737

Lack of feeling, emotion, interest

HP:0000741

Memory loss

HP:0002354

Progressive dementia

HP:0000726

Sensorineural deafness

HP:0000407

Supratentorial atrophy

HP:0002059

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary sensory and autonomic neuropathy type I(parent)

Quick Facts

SNOMED CT: 860812002
UMLS CUI: C3279885
Fully Specified Name: Hereditary sensory autonomic neuropathy type IE (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.