Trisomy 13, mosaicism (mitotic nondisjunction)
ICD-10 Q91.5 is a billable code used to indicate a diagnosis of trisomy 13, mosaicism (mitotic nondisjunction).
Trisomy 13, also known as Patau syndrome, is a chromosomal abnormality characterized by the presence of an extra 13th chromosome. Mosaicism refers to a condition where some cells have the normal number of chromosomes while others have an abnormal number. In the case of Trisomy 13 mosaicism, this occurs due to mitotic nondisjunction during early embryonic development, leading to a mixture of normal and trisomic cells. Clinically, individuals with Trisomy 13 may present with a range of congenital malformations including severe intellectual disability, heart defects, and various physical anomalies such as cleft lip and palate, polydactyly, and microcephaly. The severity of symptoms can vary significantly depending on the proportion of trisomic cells present in the body. Diagnosis is typically made through karyotyping, which can identify the chromosomal makeup of the individual. Management often involves a multidisciplinary approach, including pediatricians, geneticists, and specialists in various fields to address the complex needs of affected individuals.
Pediatric documentation should include detailed developmental assessments, descriptions of physical anomalies, and any interventions or therapies provided.
Common scenarios include routine pediatric evaluations, referrals for developmental delays, and management of congenital anomalies.
Coders should ensure that all congenital anomalies are documented and coded, as they may impact the overall management and care plan.
Genetic documentation must include karyotype results, family history, and any genetic counseling notes.
Scenarios may involve prenatal genetic testing, postnatal diagnosis, and genetic counseling sessions.
Accurate coding requires understanding the implications of mosaicism and the potential for variable expressivity in clinical presentations.
Used to confirm the diagnosis of Trisomy 13 mosaicism.
Documentation must include the reason for testing and results.
Geneticists should ensure that all relevant family history is documented.
Mosaicism in Trisomy 13 indicates that not all cells have the extra chromosome, which can lead to a variable clinical presentation. Some individuals may have milder symptoms compared to those with non-mosaic forms, making accurate coding and documentation essential for appropriate care.
