Trisomy and partial trisomy of autosomes, unspecified

This code signifies a chromosomal abnormality characterized by the presence of an extra copy of an autosomal chromosome, either a whole chromosome or a segment of one, when the specific chromosome involved is not documented. It represents a genetic disorder resulting from an imbalance in autosomal chromosome number.

Apply this code when documentation indicates a trisomy or partial trisomy of an autosome, but the specific autosomal chromosome (e.g., chromosome 13, 18, 21) is not identified. This is often used in preliminary diagnoses or when genetic testing results are incomplete or pending.

• Avoid using this code if the specific trisomy (e.g., Down syndrome, Patau syndrome, Edwards syndrome) is known and documented; instead, use the more specific code.
• Always query the provider for clarification if the specific autosomal trisomy is suspected but not explicitly stated.
• Consider sequencing this code as the primary diagnosis if it is the reason for the encounter, especially for genetic counseling or diagnostic workup.