Osteoporosis with pseudoglioma

disorder

SNOMED 254112001CUI C0432252

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased bone mineral density Z score

Always present (100%)HP:0004349

Decreased visual acuity

Always present (100%)HP:0007663

Flattened vertebral bodies

Always present (100%)HP:0000926

Legal blindness

Always present (100%)HP:0000618

Pseudoglioma

Always present (100%)HP:6000262

Increased susceptibility to fractures

Very frequent (80-99%)HP:0002659

Osteoporosis

Very frequent (80-99%)HP:0000939

Abnormal vitreous humor morphology

Frequent (30-79%)HP:0004327

Abnormality of lower limb bone

Frequent (30-79%)HP:0040069

Angle closure glaucoma

Frequent (30-79%)HP:0012109

Congenital blindness

Frequent (30-79%)HP:0007875

Crumpled long bones

Frequent (30-79%)HP:0006367

Exudative vitreoretinopathy

Frequent (30-79%)HP:0030490

Hypotonia, early

Frequent (30-79%)HP:0008947

Increased fracture rate

Frequent (30-79%)HP:0002757

Leukocoria

Frequent (30-79%)HP:0000555

Loose-jointedness

Frequent (30-79%)HP:0001382

Loss of ambulation

Frequent (30-79%)HP:0002505

Low serum 1,25-dihydroxyvitamin D3

Frequent (30-79%)HP:0012052

Osteopenia

Frequent (30-79%)HP:0000938

Persistent hyperplasia of primary vitreous

Frequent (30-79%)HP:0007968

Poor school performance

Frequent (30-79%)HP:0001249

Retinal detachment

Frequent (30-79%)HP:0000541

Scarring or clouding of the cornea of the eye

Frequent (30-79%)HP:0007957

Serous retinal detachment

Frequent (30-79%)HP:0012231

Severely impaired vision

Frequent (30-79%)HP:0001141

Slender long bone

Frequent (30-79%)HP:0003100

Waddling gait

Frequent (30-79%)HP:0002515

Widened metaphyses

Frequent (30-79%)HP:0003016

Abnormality of the femoral neck or head region

Occasional (5-29%)HP:0003366

Related Conditions

Osteogenesis imperfecta(parent)

Quick Facts

SNOMED CT: 254112001
UMLS CUI: C0432252
Fully Specified Name: Osteoporosis with pseudoglioma (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.