Snyder-Robinson Syndrome is a rare genetic disorder characterized by intellectual disability, muscle and bone abnormalities, and speech difficulties. The ICD-10 code for Snyder-Robinson Syndrome is Q87.8, which falls under the category of "Other specified congenital malformation syndromes predominantly affecting facial appearance."
The ICD-9 code for Snyder-Robinson Syndrome is 759.89, categorized as "Other specified congenital anomalies."
Snyder-Robinson Syndrome (SRS) is a rare genetic disorder that primarily affects males. It is characterized by intellectual disability, developmental delay, and skeletal abnormalities. SRS is caused by mutations in the Spermine Synthase (SMS) gene, which is responsible for the production of spermine, a polyamine involved in various cellular processes.
Individuals with Snyder-Robinson Syndrome often exhibit a range of clinical features, which may vary in severity. The most common symptoms include:
The diagnosis of Snyder-Robinson Syndrome is typically based on clinical features, family history, and genetic testing. Genetic testing can identify mutations in the SMS gene, confirming the diagnosis. It is important to consult with a medical geneticist or a genetic counselor for proper evaluation and diagnosis.
The International Classification of Diseases, 10th Revision (ICD-10), provides a coding system for diseases and medical conditions. The ICD-10 code for Snyder-Robinson Syndrome is Q87.8. This code falls under the category of "Other specified congenital malformation syndromes predominantly affecting facial appearance."
The International Classification of Diseases, 9th Revision (ICD-9), was previously used for coding medical conditions. The corresponding ICD-9 code for Snyder-Robinson Syndrome is 759.89. This code falls under the category of "Other specified congenital anomalies."
It is important to note that the ICD-9 code has been replaced by the newer ICD-10 code, which provides a more detailed and comprehensive classification system.