Enchondromatosis
ICD-10 Q78.4 is a billable code used to indicate a diagnosis of enchondromatosis.
Enchondromatosis is a rare genetic disorder characterized by the development of multiple benign cartilaginous tumors (enchondromas) within the bones, particularly affecting the long bones of the hands and feet. This condition is often associated with Ollier disease, where the enchondromas can lead to skeletal deformities and an increased risk of malignant transformation. Patients may present with limb deformities, pain, and functional impairment due to the presence of these tumors. The condition is typically diagnosed through imaging studies, such as X-rays or MRI, which reveal the characteristic lesions. Management may involve monitoring, surgical intervention for symptomatic lesions, and addressing any associated deformities. Enchondromatosis can also be linked to other congenital malformations, including limb reduction defects and scoliosis, making it essential for healthcare providers to conduct thorough assessments and provide comprehensive care.
Documentation should include detailed descriptions of physical examinations, imaging results, and any functional limitations experienced by the child.
A pediatric patient presents with multiple bone deformities and pain in the limbs, requiring imaging and potential surgical intervention.
Coders should ensure that all associated congenital malformations are documented to provide a complete clinical picture.
Genetic testing results, family history of similar conditions, and any genetic counseling provided should be documented.
A child with a family history of enchondromatosis undergoes genetic testing to confirm the diagnosis and assess the risk for siblings.
Accurate coding requires understanding the genetic basis of the condition and its implications for family members.
Used when a patient with enchondromatosis presents with joint pain requiring aspiration.
Document the reason for the procedure, including symptoms and imaging findings.
Orthopedic specialists should ensure that the procedure is justified based on clinical findings.
The primary concern is ensuring accurate documentation of associated conditions and the potential for malignant transformation, which can affect treatment and management strategies.
