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.

Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome — Symptoms, Testing & Specialists | Ltrl