Blue cone monochromatism

disorder

SNOMED 789676005CUI C0339537

Overview

Blue cone monochromatism 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.

Blue cone monochromatism

Very frequent (80-99%)HP:0007939

Abnormal colour vision

Frequent (30-79%)HP:0000551

Eccentric visual fixation

Frequent (30-79%)HP:0025549

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Near sighted

Frequent (30-79%)HP:0000545

Reduced OCT-measured foveal thickness

Frequent (30-79%)HP:0030619

Abnormal ERG

Occasional (5-29%)HP:0000512

Abnormality of macular pigmentation

Occasional (5-29%)HP:0008002

Corneal dystrophy

Occasional (5-29%)HP:0001131

Hyperopia

Occasional (5-29%)HP:0000540

Impaired vision

Occasional (5-29%)HP:0000505

Photophobia

Occasional (5-29%)HP:0000613

Retinal pigmentary anomaly

Occasional (5-29%)HP:0007703

Decreased visual acuity

HP:0007663

Nystagmus, continuous pendular

HP:0012043

Related Conditions

Congenital anomaly of retina(parent)

Cone dystrophy(parent)

Congenital color blindness(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 789676005
UMLS CUI: C0339537
Fully Specified Name: Blue cone monochromatism (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.