Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome

disorder

SNOMED 1197357008CUI C4225424

Overview

Colobomatous optic disc, macular atrophy, chorioretinopathy 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.

Abnormally small eyeball

Always present (100%)HP:0000568

Buphthalmos

Frequent (30-79%)HP:0000557

Corneal scarring

Frequent (30-79%)HP:0000559

Glaucoma

Frequent (30-79%)HP:0000501

Retinal detachment

Frequent (30-79%)HP:0000541

Chorioretinal coloboma

Occasional (5-29%)HP:0000567

Iris coloboma

Occasional (5-29%)HP:0000612

Breakdown of light-sensitive cells in back of eye

HP:0000556

Cataract

HP:0000518

Horizontal nystagmus

HP:0000666

Involuntary, rapid, rhythmic eye movements

HP:0000639

Macular atrophy

HP:0007401

Miosis

HP:0000616

Related Conditions

Congenital coloboma of bilateral optic discs(parent)

Inherited optic neuropathy(parent)

Developmental hereditary disorder(parent)

Atrophy of macula lutea(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1197357008
UMLS CUI: C4225424
Fully Specified Name: Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.