Nezelof's syndrome
ICD-10 D81.4 is a billable code used to indicate a diagnosis of nezelof's syndrome.
Nezelof's syndrome is a rare immunodeficiency disorder characterized by a specific defect in T-cell development, leading to a lack of T-lymphocytes and associated immunological dysfunction. This condition is classified under the group of severe combined immunodeficiencies (SCID) and is often associated with other hematological abnormalities, including hypogammaglobulinemia. Patients with Nezelof's syndrome typically present with recurrent infections, particularly viral and fungal infections, due to their compromised immune system. The syndrome is also associated with various hematological manifestations, such as anemia and thrombocytopenia, which can complicate the clinical picture. Diagnosis is often made through a combination of clinical evaluation, immunological testing, and genetic studies to identify the underlying defect in T-cell maturation. Management of Nezelof's syndrome may involve immunoglobulin replacement therapy, prophylactic antibiotics, and in some cases, hematopoietic stem cell transplantation to restore immune function. Due to its rarity and complexity, accurate coding and documentation are crucial for appropriate patient management and reimbursement.
Detailed immunological test results, patient history of infections, and treatment plans.
Patients presenting with recurrent infections, failure to thrive, or unusual infections.
Ensure all immunological evaluations are documented to support the diagnosis.
Complete blood counts, bone marrow biopsy results, and any hematological abnormalities.
Patients with anemia or thrombocytopenia in the context of immunodeficiency.
Document any co-existing hematological conditions that may influence treatment.
Used when evaluating a patient suspected of having Nezelof's syndrome.
Document the rationale for testing and results.
Immunologists should ensure comprehensive documentation of all test results.
Nezelof's syndrome is a rare immunodeficiency disorder characterized by a defect in T-cell development, leading to severe immune dysfunction and increased susceptibility to infections.
