Phakomatosis, unspecified
ICD-10 Q85.9 is a billable code used to indicate a diagnosis of phakomatosis, unspecified.
Phakomatosis refers to a group of congenital disorders characterized by the presence of skin lesions and other abnormalities that can affect various organ systems. These conditions often involve neurocutaneous syndromes, where the skin and nervous system are both affected. The unspecified nature of this code indicates that the specific type of phakomatosis has not been determined. Common manifestations may include neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome, which can present with skin pigmentation changes, tumors, and neurological deficits. Accurate diagnosis often requires a multidisciplinary approach, including dermatological, neurological, and genetic evaluations. The complexity of these conditions lies in their variable presentations and potential for associated systemic involvement, necessitating thorough clinical assessment and documentation to guide appropriate coding and treatment.
Pediatric documentation must include growth parameters, developmental milestones, and specific skin findings.
Common scenarios include a child presenting with café-au-lait spots and neurological symptoms, requiring a thorough evaluation for neurofibromatosis.
Pediatric coders should be aware of the age-specific manifestations of phakomatosis and the importance of family history in genetic conditions.
Genetic documentation should include family pedigree, results of genetic testing, and any counseling provided.
Scenarios may involve a child with multiple skin lesions undergoing genetic counseling for potential hereditary syndromes.
Genetic coders must ensure accurate coding of both the condition and any related genetic tests performed.
Used for follow-up visits in patients with phakomatosis.
Document history, examination findings, and any changes in treatment.
Pediatricians should focus on developmental assessments.
When genetic testing is performed to confirm a diagnosis.
Include results of genetic tests and interpretation.
Geneticists should document family history and counseling provided.
Phakomatosis refers to a group of congenital disorders characterized by skin lesions and neurological abnormalities. It includes conditions like neurofibromatosis and tuberous sclerosis, which require careful documentation for accurate coding.
When a specific type of phakomatosis is diagnosed, use the corresponding code (e.g., Q85.0 for Neurofibromatosis type 1) instead of the unspecified code Q85.9.
