Congenital absence of upper arm and forearm with hand present
ICD-10 Q71.1 is a billable code used to indicate a diagnosis of congenital absence of upper arm and forearm with hand present.
Congenital absence of the upper arm and forearm with the hand present is a rare limb reduction defect characterized by the complete or partial absence of the humerus and radius/ulna, while the hand remains intact. This condition can occur as an isolated anomaly or as part of a syndrome involving other congenital malformations. The absence of the upper limb can significantly impact the child's functional abilities and may require multidisciplinary management, including orthopedic intervention, prosthetic fitting, and occupational therapy. The etiology of this condition can be multifactorial, including genetic predispositions and environmental factors during pregnancy. Accurate diagnosis often involves imaging studies and genetic testing to rule out associated syndromes, such as phocomelia or amelia. Early intervention is crucial for optimizing functional outcomes and enhancing the quality of life for affected children.
Pediatric documentation should include detailed descriptions of the limb's condition, functional assessments, and any associated developmental delays.
Common scenarios include initial evaluations of limb absence, follow-up visits for prosthetic fitting, and assessments for occupational therapy.
Considerations include the child's age, developmental milestones, and family support systems.
Genetic documentation should include family history, results of genetic testing, and any syndromic associations.
Scenarios may involve genetic counseling for families, discussions of recurrence risks, and management of syndromic conditions.
Considerations include the need for genetic testing to identify potential syndromic causes and implications for family planning.
Used for surgical interventions related to limb absence.
Detailed operative notes and pre-operative assessments.
Orthopedic specialists should provide comprehensive documentation of the procedure and rationale.
Accurate coding of Q71.1 is crucial for ensuring appropriate treatment and resource allocation for affected children. It also aids in tracking the prevalence of congenital limb defects and informs public health initiatives.
