Colobomatous macrophthalmia with microcornea syndrome

disorder

SNOMED 1179296003CUI C1865286

Overview

Colobomatous macrophthalmia with microcornea 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.

Coloboma of choroid

Always present (100%)HP:0000567

Cornea of eye less than 10mm in diameter

Always present (100%)HP:0000482

Cornea plana

Always present (100%)HP:0007720

Globe elongated

Always present (100%)HP:0007800

Iris coloboma

Always present (100%)HP:0000612

Near sighted

Always present (100%)HP:0000545

Shallow anterior chamber

Always present (100%)HP:0000594

Optic disc coloboma

Very frequent (80-99%)HP:0000588

Elevated IOP

Very rare (1-4%)HP:0007906

Decreased visual acuity

HP:0007663

Involuntary, rapid, rhythmic eye movements

HP:0000639

Macular atrophy

HP:0007401

Squint

HP:0000486

Related Conditions

Autosomal dominant hereditary disorder(parent)

Microcornea(parent)

Inherited optic neuropathy(parent)

Developmental hereditary disorder(parent)

Congenital coloboma of optic disc(parent)

Congenital coloboma of iris(parent)

Macrophthalmia(parent)

Quick Facts

SNOMED CT: 1179296003
UMLS CUI: C1865286
Fully Specified Name: Colobomatous macrophthalmia with microcornea 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.