Trisomy 18, translocation

This code identifies Edwards syndrome (Trisomy 18) specifically when caused by a chromosomal translocation. This genetic disorder results from an extra copy of chromosome 18, leading to severe developmental abnormalities, intellectual disability, and often life-limiting conditions. The translocation variant means the extra chromosome 18 material is attached to another chromosome.

Use this code when documentation explicitly states a diagnosis of Trisomy 18 due to a translocation. This diagnosis is typically confirmed by karyotyping or chromosomal microarray analysis. It is appropriate for both live births and fetal diagnoses where the specific translocation etiology is identified.

• Ensure documentation specifies "translocation" as the cause of Trisomy 18; otherwise, use a more general Trisomy 18 code.
• Do not confuse with full Trisomy 18 or mosaic Trisomy 18, which have distinct codes.
• Code any associated congenital anomalies or manifestations of Trisomy 18 as secondary diagnoses.