PTEN hamartoma tumor syndrome
ICD-10 Q85.81 is a billable code used to indicate a diagnosis of pten hamartoma tumor syndrome.
PTEN hamartoma tumor syndrome (PHTS) is a genetic disorder characterized by the presence of multiple hamartomas, which are benign tumors that can occur in various tissues, including the skin, breast, and gastrointestinal tract. This syndrome is associated with mutations in the PTEN gene, which plays a crucial role in regulating cell growth and division. Patients with PHTS may present with skin lesions such as trichilemmomas, acral keratoses, and lipomas, as well as an increased risk for certain cancers, particularly breast and thyroid cancers. Other congenital malformations may include developmental delays and neurodevelopmental disorders. The diagnosis is often made through clinical evaluation and genetic testing to identify PTEN mutations. Management typically involves regular surveillance for malignancies and symptomatic treatment of hamartomas. Given the complexity of the syndrome and its manifestations, accurate coding is essential for appropriate patient management and resource allocation.
Detailed family history, growth and development assessments, and documentation of any congenital anomalies.
Pediatric patients presenting with skin lesions, developmental delays, or family history of PHTS.
Ensure thorough documentation of all congenital anomalies and their management to support coding.
Genetic testing results, family pedigree, and detailed clinical findings related to PHTS.
Genetic counseling sessions for families with a history of PTEN mutations or related syndromes.
Accurate coding requires clear documentation of genetic findings and their implications for patient management.
Used for confirming diagnosis in patients suspected of having PHTS.
Genetic testing results and clinical findings must be documented.
Genetic specialists should ensure comprehensive documentation to support the necessity of testing.
Accurate coding of PTEN hamartoma tumor syndrome is crucial for ensuring appropriate patient management, facilitating access to necessary screenings, and supporting research into the condition. It also helps in tracking the prevalence and outcomes of this genetic disorder.
