Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome

disorder

SNOMED 722110003CUI C4302824

Overview

Osteogenesis imperfecta, retinopathy, seizures, 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.

Abnormality of vision

Very frequent (80-99%)HP:0000504

Extra bones within cranial sutures

Very frequent (80-99%)HP:0002645

Eye disease

Very frequent (80-99%)HP:0000478

Optic atrophy

Very frequent (80-99%)HP:0000648

Poor school performance

Very frequent (80-99%)HP:0001249

Recurrent fractures

Very frequent (80-99%)HP:0002757

Seizures

Very frequent (80-99%)HP:0001250

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Related Conditions

Retinal disorder(parent)

Osteogenesis imperfecta(parent)

Seizure disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722110003
UMLS CUI: C4302824
Fully Specified Name: Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.