Karyotype 47, XXX

This code represents Triple X syndrome, a chromosomal aneuploidy characterized by the presence of an extra X chromosome in females, resulting in a 47,XXX karyotype. Individuals with this condition are typically female and may present with a range of phenotypes, often including tall stature, learning difficulties, and speech delays, though many are asymptomatic.

Use this code when documentation confirms a diagnosis of Triple X syndrome based on a genetic test showing a 47,XXX karyotype. This code is appropriate for initial diagnosis, ongoing management, and follow-up care for individuals identified with this chromosomal abnormality.

• Ensure genetic testing results explicitly state a 47,XXX karyotype to support this diagnosis.
• Do not confuse with other sex chromosome aneuploidies like Klinefelter syndrome (47,XXY) or Turner syndrome (45,X).
• Code any associated clinical manifestations or comorbidities (e.g., intellectual disabilities, developmental delays) separately and in addition to this code.