Trisomy 13, translocation

This code identifies Patau syndrome (Trisomy 13) specifically caused by a translocation, rather than a full extra chromosome 13. This genetic disorder is characterized by severe intellectual disability, multiple congenital anomalies affecting the heart, brain, kidneys, and other organs, and often a cleft lip and/or palate. It results from an abnormal rearrangement of chromosomal material involving chromosome 13.

Use this code when documentation explicitly states a diagnosis of Trisomy 13 due to a translocation. This typically follows genetic testing, such as karyotyping or FISH analysis, confirming the specific chromosomal abnormality. It applies to live births, stillbirths, or fetal diagnoses where this genetic etiology is identified.

• Ensure documentation specifies "translocation" as the cause of Trisomy 13; otherwise, a different code for full Trisomy 13 may be more appropriate.
• Sequence this code as the primary diagnosis when it is the reason for the encounter or the underlying cause of the patient's condition.
• Code all associated congenital anomalies and manifestations separately, as they are not inherent to this genetic code.