Trisomy 18, unspecified

This code identifies the presence of Trisomy 18, also known as Edwards syndrome, a severe chromosomal disorder characterized by an extra copy of chromosome 18. This genetic anomaly typically results in significant developmental delays, congenital malformations affecting multiple organ systems, and a high mortality rate, often within the first year of life.

This code is appropriate for documenting a diagnosis of Trisomy 18 when the specific type or manifestation is not further specified in the medical record. It is used for both live births and fetal diagnoses where the genetic testing confirms the presence of an extra chromosome 18. Documentation supporting its use includes genetic test results (karyotype), clinical findings consistent with Edwards syndrome, and physician's diagnostic statements.

• Do not use this code if a more specific type of Trisomy 18 (e.g., mosaicism) is documented; look for codes that specify the variant.
• Always sequence this code as a primary diagnosis when it is the reason for the encounter or hospitalization.
• Ensure the medical record clearly states "Trisomy 18" or "Edwards syndrome" to support the use of this unspecified code.