Karyotype 45, X

This code represents Turner syndrome, a chromosomal disorder affecting females, characterized by the absence of all or part of one X chromosome. Individuals typically present with a 45,X karyotype, leading to a range of developmental and medical issues.

Use this code when documentation confirms a diagnosis of Turner syndrome based on a 45,X karyotype. This applies to initial diagnoses, as well as ongoing management of patients with this confirmed genetic condition. Documentation should clearly state the chromosomal abnormality.

• Do not use for mosaic Turner syndrome (e.g., 45,X/46,XX); specific codes exist for mosaicism.
• Code all associated clinical manifestations (e.g., congenital heart defects, renal anomalies) separately.
• Ensure the medical record explicitly states the 45,X karyotype or a definitive diagnosis of Turner syndrome.