The ICD-10 code for Tetrahydrobiopterin Deficiency is E70.8. This code is used to classify this specific genetic disorder in the International Classification of Diseases, 10th Revision. Unfortunately, ICD-9 does not have a specific code for Tetrahydrobiopterin Deficiency as it was replaced by ICD-10. It is important to consult with a healthcare professional for accurate diagnosis and appropriate treatment options.
Tetrahydrobiopterin (BH4) deficiency is a rare genetic disorder that affects the production and recycling of a molecule called tetrahydrobiopterin. This molecule is essential for the proper function of several enzymes responsible for the synthesis of neurotransmitters, including dopamine, serotonin, and norepinephrine. Without adequate levels of BH4, these enzymes cannot function properly, leading to a range of neurological and psychiatric symptoms.
In the International Classification of Diseases, 10th Revision (ICD-10), the code for tetrahydrobiopterin deficiency is E70.8. This code falls under the category of "Other disorders of amino-acid metabolism." It is important to note that the ICD-10 code provides a standardized system for classifying diseases and medical conditions, which helps healthcare professionals accurately document and track diagnoses for research, billing, and statistical purposes.
In the previous version of the classification system, the ICD-9 code for tetrahydrobiopterin deficiency was 270.3. The ICD-9 code set was used until October 1, 2015, when it was replaced by ICD-10 to provide a more detailed and comprehensive framework for medical coding.
Tetrahydrobiopterin deficiency presents with a wide range of symptoms, including movement disorders, developmental delay, intellectual disability, seizures, and behavioral problems. These symptoms can vary in severity and may manifest early in infancy or later in childhood. Since BH4 is also involved in the production of nitric oxide, some individuals with tetrahydrobiopterin deficiency may also experience vascular symptoms such as hypertension, autonomic dysfunction, and impaired nitric oxide-dependent vasodilation.
Early diagnosis and treatment of tetrahydrobiopterin deficiency are crucial to optimize outcomes for affected individuals. Treatment typically involves supplementation with synthetic BH4 and a diet low in phenylalanine, which helps manage the symptoms and prevent complications. Genetic counseling and testing are essential for families affected by this condition to understand the inheritance pattern and potential risks for future pregnancies.
Overall, tetrahydrobiopterin deficiency is a rare genetic disorder with significant neurological implications. The ICD-10 code E70.8 and the previous ICD-9 code 270.3 provide a standardized classification for this condition, aiding in accurate diagnosis, treatment, and research efforts.