Osteogenesis imperfecta type V

disorder

SNOMED 1003379004CUI C2931093

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.

Increased fracture rate

Always present (100%)HP:0002757

Limited pronation/supination of forearm

Always present (100%)HP:0006394

Osteopenia

Always present (100%)HP:0000938

Anterior radial head dislocation

Frequent (30-79%)HP:0005084

Biconcave 'codfish' vertebrae

Frequent (30-79%)HP:0004586

Decreased body height

Frequent (30-79%)HP:0004322

Extra bones within cranial sutures

Frequent (30-79%)HP:0002645

Hyperplastic callus formation

Frequent (30-79%)HP:0030268

Inverted triangular face

Frequent (30-79%)HP:0000325

anterior wedging

Occasional (5-29%)HP:0008422

Dropped arches

Occasional (5-29%)HP:0001763

Flattened vertebral bodies

Occasional (5-29%)HP:0000926

Grey sclerae

Occasional (5-29%)HP:0000592

Hyperextensibility at elbow

Occasional (5-29%)HP:0010485

Hyperextensible fingers

Occasional (5-29%)HP:0001187

Ligamentous laxity

Occasional (5-29%)HP:0001382

Abnormality of pelvic girdle bone morphology

HP:0002644

Dentinogenesis imperfecta

Excluded (<1%)HP:0000703

Related Conditions

Small stature(parent)

Hereditary disorder of musculoskeletal system(parent)

Autosomal hereditary disorder(parent)

Developmental hereditary disorder(parent)

Osteogenesis imperfecta(parent)

Quick Facts

SNOMED CT: 1003379004
UMLS CUI: C2931093
Fully Specified Name: Osteogenesis imperfecta type 5 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.