HSAN8 - hereditary sensory and autonomic neuropathy type 8

disorder

SNOMED 1172838005CUI C4225308

Overview

HSAN8 - hereditary sensory and autonomic neuropathy type 8 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.

Absence of pain sensation

Always present (100%)HP:0007021

Impaired thermal sensitivity

Always present (100%)HP:0010829

Skin infections, recurrent

Very frequent (80-99%)HP:0001581

Corneal scarring

Frequent (30-79%)HP:0000559

Decreased tear secretion

Frequent (30-79%)HP:0000633

Hypoaesthesia

Frequent (30-79%)HP:0033748

Hypohidrosis

Frequent (30-79%)HP:0000966

Hyporeflexia

Occasional (5-29%)HP:0001265

Impaired proprioception

Occasional (5-29%)HP:0010831

Impaired vibratory sensation

Occasional (5-29%)HP:0002495

Nonprogressive mental retardation

Occasional (5-29%)HP:0001249

Corneal ulcerations

HP:0012804

GI dysmotility

Excluded (<1%)HP:0002579

Sense of smell impaired

Excluded (<1%)HP:0004409

Sensorineural deafness

Excluded (<1%)HP:0000407

Related Conditions

Hereditary sensory and autonomic neuropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1172838005
UMLS CUI: C4225308
Fully Specified Name: Hereditary sensory and autonomic neuropathy type 8 (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.