Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome

disorder

SNOMED 722439009CUI C3280392

Overview

Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning 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.

Abnormal curving of the cornea or lens of the eye

Always present (100%)HP:0000483

Keratoconus

Always present (100%)HP:0000563

Polar cataract, anterior

Always present (100%)HP:0001134

Decreased corneal diameter

HP:0000482

Decreased visual acuity

HP:0007663

Impaired vision

HP:0000505

Iris hypoplasia

HP:0007676

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Congenital anomaly of anterior segment of eye(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 722439009
UMLS CUI: C3280392
Fully Specified Name: Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.