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ICD10 code of Pitt-Hopkins Syndrome and ICD9 code

What is the ICD10 code for Pitt-Hopkins Syndrome? And the ICD9 code for Pitt-Hopkins Syndrome?

ICD9 and ICD10 codes of Pitt-Hopkins Syndrome

Pitt-Hopkins Syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay, distinctive facial features, and breathing abnormalities. The ICD-10 code for Pitt-Hopkins Syndrome is Q93.51. Unfortunately, there is no specific ICD-9 code for this syndrome as it was introduced after the transition from ICD-9 to ICD-10 coding system.



Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder characterized by intellectual disability, developmental delay, distinctive facial features, and breathing abnormalities. It is caused by mutations in the TCF4 gene, which plays a crucial role in brain development.



ICD-10 code for Pitt-Hopkins Syndrome: Q93.5



The ICD-10 code Q93.5 is specifically assigned to Pitt-Hopkins Syndrome. The ICD-10 (International Classification of Diseases, 10th Revision) is a standardized system used by healthcare professionals worldwide to classify and code medical conditions.



ICD-9 code for Pitt-Hopkins Syndrome: 759.89



Before the implementation of ICD-10, the ICD-9 (International Classification of Diseases, 9th Revision) was used. The ICD-9 code 759.89 was used to represent Pitt-Hopkins Syndrome in the previous coding system.



It's important to note that the transition from ICD-9 to ICD-10 occurred on October 1, 2015. Therefore, healthcare providers currently use the ICD-10 code Q93.5 to identify and document cases of Pitt-Hopkins Syndrome.



Pitt-Hopkins Syndrome is a complex condition that affects various aspects of an individual's development and health. The characteristic features of PTHS include:




  • Severe intellectual disability

  • Developmental delay

  • Distinctive facial features, such as a wide mouth, deep-set eyes, and a prominent nose

  • Recurrent seizures

  • Motor difficulties

  • Behavioral challenges, including autistic-like behaviors

  • Breathing abnormalities, such as episodes of hyperventilation and breath-holding

  • Gastrointestinal issues, including constipation and feeding difficulties



Diagnosing Pitt-Hopkins Syndrome involves a combination of clinical evaluation, genetic testing, and assessment of characteristic features. Genetic testing, such as DNA sequencing of the TCF4 gene, can confirm the diagnosis.



Although there is currently no cure for Pitt-Hopkins Syndrome, management focuses on addressing the individual's specific needs and symptoms. This may involve early intervention programs, speech therapy, physical therapy, occupational therapy, and behavioral interventions.



Supportive care is essential to optimize the quality of life for individuals with Pitt-Hopkins Syndrome and their families. Regular medical follow-ups, monitoring of growth and development, and addressing associated health issues are crucial components of comprehensive care.



In conclusion, Pitt-Hopkins Syndrome is a rare genetic disorder with distinct clinical features. The ICD-10 code Q93.5 is used to classify and code this condition, while the previous ICD-9 code was 759.89. Early diagnosis, appropriate management, and comprehensive care can greatly contribute to the well-being of individuals with Pitt-Hopkins Syndrome.


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