Optic nerve oedema, splenomegaly syndrome

disorder

SNOMED 771471002CUI C4749914

Overview

Optic nerve oedema, splenomegaly syndrome 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.

Sweating dysfunction

Always present (100%)HP:0000970

Large spleen

Very frequent (80-99%)HP:0001744

Pancytopenia

Very frequent (80-99%)HP:0001876

Cone-rod retinal dystrophy

Frequent (30-79%)HP:0000548

Intermittent migraine headaches

Frequent (30-79%)HP:0002076

Hives

Occasional (5-29%)HP:0001025

Intermittent fever

Occasional (5-29%)HP:0001954

Visual loss

HP:0000572

Related Conditions

Splenomegaly(parent)

Autosomal dominant hereditary disorder(parent)

Inherited optic neuropathy(parent)

Disorder characterized by edema(parent)

Quick Facts

SNOMED CT: 771471002
UMLS CUI: C4749914
Fully Specified Name: Optic nerve edema, splenomegaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.