Bornholm eye disease

disorder

SNOMED 718718009CUI C3159311

Overview

Bornholm eye disease 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.

Abnormal curving of the cornea or lens of the eye

HP:0000483

Abnormality of RPE

HP:0007703

Decreased light- and dark-adapted electroretinogram amplitude

HP:0000654

Green-blind

HP:0011521

Hypoplastic optic nerves

HP:0000609

Protanopia

HP:0011522

Severe myopia

HP:0011003

Wandering eye

HP:0000646

Related Conditions

Myopia(parent)

Hereditary disorder of the visual system(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 718718009
UMLS CUI: C3159311
Fully Specified Name: X-linked cone dysfunction syndrome with myopia (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.