Immunodeficiency with short-limbed stature
ICD-10 D82.2 is a billable code used to indicate a diagnosis of immunodeficiency with short-limbed stature.
Immunodeficiency with short-limbed stature is a rare genetic disorder characterized by a combination of immune system dysfunction and skeletal abnormalities, particularly affecting the limbs. Patients with this condition often exhibit a deficiency in specific immune responses, leading to increased susceptibility to infections. The short-limbed stature is typically due to skeletal dysplasia, which can manifest as disproportionate limb length relative to the trunk. This condition may be associated with various hematologic abnormalities, including altered blood cell counts and immune cell function. Diagnosis is often made through clinical evaluation, genetic testing, and immunological assessments. Management focuses on preventing infections, monitoring growth and development, and addressing any hematologic complications that may arise. Regular follow-up with a multidisciplinary team, including immunologists and geneticists, is essential for optimal patient care.
Detailed immunological assessments, including specific tests performed and results.
Patients presenting with recurrent infections or unusual infections.
Ensure comprehensive documentation of immune status and any interventions.
Genetic testing results and family history of similar conditions.
Evaluation of patients with short stature and immune issues.
Document the genetic basis of the condition to support coding.
Used to assess hematologic status in patients with D82.2.
Document the reason for the CBC and any abnormal findings.
Immunologists should ensure that CBC results are interpreted in the context of the patient's immunodeficiency.
Accurate coding of D82.2 is crucial for proper patient management, reimbursement, and ensuring that the patient's unique clinical needs are met. It also aids in research and understanding of this rare condition.
