O'Donnell Pappas syndrome

disorder

SNOMED 778042000CUI C2931644

Overview

O'Donnell Pappas 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 eye

Very frequent (80-99%)HP:0000478

Abnormality of vision

Very frequent (80-99%)HP:0000504

Generalised hyperpigmentation

Very frequent (80-99%)HP:0007440

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Lens opacities

Very frequent (80-99%)HP:0000518

Optic atrophy

Very frequent (80-99%)HP:0000648

Squint

Frequent (30-79%)HP:0000486

Related Conditions

Hereditary disorder of the visual system(parent)

Autosomal dominant hereditary disorder(parent)

Congenital hypoplasia of fovea centralis(parent)

Congenital nystagmus(parent)

Presenile cataract(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 778042000
UMLS CUI: C2931644
Fully Specified Name: Foveal hypoplasia with presenile cataract 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.