Aniridia and intellectual disability syndrome

disorder

SNOMED 720468000CUI C2931243

Overview

Aniridia and intellectual disability 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.

Aniridia

Very frequent (80-99%)HP:0000526

Hypoplastic optic nerves

Very frequent (80-99%)HP:0000609

Lens dislocation

Very frequent (80-99%)HP:0001083

Lens opacities

Very frequent (80-99%)HP:0000518

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Related Conditions

Autosomal dominant hereditary disorder(parent)

Aniridia(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 720468000
UMLS CUI: C2931243
Fully Specified Name: Aniridia and intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 5

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.