Preferred Label : Osteogenesis imperfecta type 2;
ICD-11 definition : Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI),
a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility
to bone fractures. Patients with type II present multiple rib and long bone fractures
at birth, marked deformities, broad long bones, low density on skull X-rays, and dark
sclera.;
ICD-11 synonym : Vrolik disease;
Origin ID : 2024049157;
Automatic exact mappings (from CISMeF team)
Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI),
a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility
to bone fractures. Patients with type II present multiple rib and long bone fractures
at birth, marked deformities, broad long bones, low density on skull X-rays, and dark
sclera.