Mulvihill Smith Syndrome (MSS) is a rare genetic disorder characterized by multiple physical and developmental abnormalities. It is also known as 17q21.31 microdeletion syndrome, as it is caused by a deletion of genetic material on the long arm of chromosome 17 at position 21.31. This condition was first described by Mulvihill and Smith in 1986, hence the name.
Individuals with Mulvihill Smith Syndrome typically exhibit a range of symptoms and features. These may include intellectual disability, delayed development, speech and language difficulties, behavioral problems, distinctive facial features, short stature, and various physical abnormalities. Some affected individuals may also have heart defects, kidney abnormalities, or other organ malformations.
Diagnosing Mulvihill Smith Syndrome involves a thorough clinical evaluation, including a detailed medical history, physical examination, and genetic testing. The ICD-10 code assigned to this condition is Q93.51. This code falls under the category of "Other deletions of part of a chromosome" in the ICD-10 coding system.
It is important to note that the ICD-10 code provides a standardized way of classifying and coding medical conditions for billing, statistical, and research purposes. It helps healthcare professionals and researchers to accurately identify and track specific disorders.
Prior to the implementation of the ICD-10 coding system, the ICD-9 code was used. The corresponding ICD-9 code for Mulvihill Smith Syndrome is 758.39. This code falls under the category of "Other conditions due to autosomal anomalies" in the ICD-9 coding system.
It is crucial for healthcare providers to use the appropriate ICD code when documenting and coding Mulvihill Smith Syndrome. This ensures accurate medical records, facilitates communication between healthcare professionals, and enables proper reimbursement for medical services.
While the ICD codes provide a standardized classification system, it is essential to consult with a healthcare professional for a comprehensive evaluation and management of Mulvihill Smith Syndrome. Each individual may present with unique symptoms and require personalized care and support.