Phocomelia, unspecified limb(s)
ICD-10 Q73.1 is a billable code used to indicate a diagnosis of phocomelia, unspecified limb(s).
Phocomelia is a congenital condition characterized by the absence or severe shortening of limbs, resulting in a flipper-like appearance. This condition can affect one or more limbs and is often associated with other congenital malformations. The etiology of phocomelia can be genetic or environmental, with teratogenic factors such as thalidomide exposure during pregnancy being a well-documented cause. Clinically, phocomelia presents with varying degrees of limb reduction defects, which may include the absence of the humerus or femur, leading to significant functional impairment. Children with phocomelia may also experience associated musculoskeletal anomalies, such as scoliosis or hip dysplasia, which can complicate their overall health management. Accurate diagnosis typically involves a combination of physical examination, imaging studies, and genetic testing to rule out associated chromosomal abnormalities. Early intervention, including physical therapy and orthopedic management, is crucial for improving mobility and quality of life for affected individuals.
Detailed clinical notes including physical examination findings, imaging results, and treatment plans.
Assessment of limb function, referral for orthopedic evaluation, and coordination of multidisciplinary care.
Consideration of developmental milestones and the impact of limb anomalies on growth and function.
Genetic testing results, family history, and risk assessment documentation.
Genetic counseling for families with a history of congenital limb defects and evaluation for syndromic associations.
Understanding the genetic basis of phocomelia and its potential inheritance patterns.
Used for follow-up visits in patients with phocomelia for ongoing management.
Documentation of the patient's history, examination findings, and treatment plan.
Pediatricians should focus on developmental assessments and referrals.
Phocomelia refers to the severe shortening of limbs, while amelia is the complete absence of a limb. Accurate coding requires understanding these distinctions to ensure proper documentation and billing.
