Osteogenesis imperfecta
ICD-10 Q78.0 is a billable code used to indicate a diagnosis of osteogenesis imperfecta.
Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause. This condition is caused by a defect in the production of collagen, a protein that helps strengthen bones. OI can manifest in various forms, ranging from mild to severe, with symptoms including frequent fractures, blue sclera, hearing loss, and dental imperfections. The severity of OI is influenced by the specific genetic mutation involved, with some individuals experiencing only a few fractures in their lifetime while others may have hundreds. In pediatric patients, the diagnosis is often made based on clinical findings, family history, and genetic testing. Management of OI typically involves a multidisciplinary approach, including orthopedic care, physical therapy, and sometimes surgical interventions to correct deformities or stabilize fractures. Understanding the complexities of OI is crucial for accurate coding and appropriate management of affected individuals.
Detailed history of fractures, growth patterns, and family history of OI.
Pediatric patients presenting with multiple fractures or deformities requiring orthopedic intervention.
Consideration of age-related factors in fracture management and growth monitoring.
Genetic testing results, family pedigree, and detailed clinical findings.
Genetic counseling sessions for families with a history of OI or suspected cases.
Understanding the inheritance patterns and implications for family members.
Used in conjunction with OI management for joint issues.
Document the joint involved and reason for the procedure.
Orthopedic specialists may frequently perform this procedure.
Osteogenesis imperfecta is primarily caused by genetic mutations affecting collagen production, leading to fragile bones.
