Doughnut lesion of calvaria and bone fragility syndrome

disorder

SNOMED 720598005CUI C1852022

Overview

Doughnut lesion of calvaria and bone fragility 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.

Bowed femura

Very rare (1-4%)HP:0002980

Flattened vertebral bodies

Very rare (1-4%)HP:0000926

Hearing loss, mixed

Very rare (1-4%)HP:0000410

No development of motor milestones

Very rare (1-4%)HP:0001270

Short stature, severe

Very rare (1-4%)HP:0003510

Dental cavities

HP:0000670

Elevated alkaline phosphatase

HP:0003155

Increased thickness of cranium

HP:0002684

Osteopenia

HP:0000938

Osteoporosis

HP:0000939

Scoliosis

HP:0002650

Varying degree of multiple fractures

HP:0002757

Related Conditions

Autosomal dominant hereditary disorder(parent)

Dysplasia with decreased bone density(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital anomaly of skull(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720598005
UMLS CUI: C1852022
Fully Specified Name: Doughnut lesion of calvaria and bone fragility syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.