Phocomelia, unspecified limb(s)

This code describes phocomelia, a rare congenital anomaly characterized by the absence or severe shortening of the proximal portions of a limb or limbs, resulting in hands or feet being attached directly to the trunk. It represents a malformation where the long bones of the arm or leg are missing or underdeveloped.

This code is appropriate when documentation specifies phocomelia without identifying the specific limb(s) affected. It should be used for congenital cases where the limb involvement is not further detailed or is generalized. Supporting documentation would include genetic reports, imaging studies, and physician notes describing the characteristic limb malformation.

• Only use this code when the specific limb(s) affected by phocomelia are not documented; otherwise, use a more specific code from the Q73 category.
• Distinguish from amelia (complete absence of a limb) or other reduction defects, which have different codes.
• Always review the entire medical record for laterality or specific limb involvement to ensure the most precise code is selected.