Autosomal recessive anterior segment dysgenesis

disorder

SNOMED 1197358003CUI C4310622

Overview

Autosomal recessive anterior segment dysgenesis 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.

Abnormality of lens position

Always present (100%)HP:0001083

Cataract

Always present (100%)HP:0000518

Corectopia

Always present (100%)HP:0009918

Iridodonesis

Frequent (30-79%)HP:0100693

Iris hypoplasia

Frequent (30-79%)HP:0007676

Iris transillumination defect

Frequent (30-79%)HP:0012805

Optic nerve dysplasia

Frequent (30-79%)HP:0001093

Small lens

Frequent (30-79%)HP:0012376

Uveal ectropion

Frequent (30-79%)HP:0025358

Persistent pupillary membrane

Occasional (5-29%)HP:0009917

Corneal opacity

Excluded (<1%)HP:0007957

Corneal stromal edema

Excluded (<1%)HP:0012040

Related Conditions

Developmental hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Congenital anomaly of anterior segment of eye(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1197358003
UMLS CUI: C4310622
Fully Specified Name: Autosomal recessive dysgenesis of anterior segment of eye (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.