Holoprosencephaly
ICD-10 Q04.2 is a billable code used to indicate a diagnosis of holoprosencephaly.
Holoprosencephaly is a congenital malformation of the brain characterized by the incomplete separation of the forebrain (prosencephalon) into two hemispheres. This condition can result in a range of neurological deficits and physical anomalies, including facial deformities such as cyclopia or a single central incisor. The severity of holoprosencephaly varies widely, with some infants exhibiting mild symptoms while others may have severe developmental delays or life-threatening complications. It is often associated with chromosomal abnormalities, particularly trisomy 13, and can occur in isolation or as part of syndromic conditions. Diagnosis is typically made through imaging studies such as ultrasound or MRI, and management may involve a multidisciplinary approach including neurology, genetics, and palliative care. Early intervention is crucial for optimizing developmental outcomes.
Detailed clinical notes on developmental milestones, physical examination findings, and imaging results.
Infants presenting with developmental delays, facial anomalies, or seizures.
Ensure accurate coding of associated conditions and developmental assessments.
Genetic testing results, family history, and counseling notes.
Families seeking genetic counseling after a diagnosis of holoprosencephaly.
Documenting chromosomal abnormalities and syndromic associations is critical for accurate coding.
Used for initial assessment of holoprosencephaly in neonates.
Detailed ultrasound findings and clinical correlation.
Pediatric radiology notes should clearly document findings related to holoprosencephaly.
Accurate coding of holoprosencephaly is crucial for appropriate patient management, resource allocation, and understanding the epidemiology of congenital malformations. It also impacts reimbursement and the ability to track outcomes for affected individuals.
