SYNGAP1 ICD-10 CODE Submission for 2019 Committee Meeting Was Denied.  The SYNGAP1 ICD-10 Code submitted by the SYNGAP1 Foundation was approved May 4, 2020.

We would like to acknowledge another SYNGAP1 parent, Hans Schlecht representing Global Genes submitted a proposal letter to the CDC on June 12, 2019, for a request for multiple rare diseases, including SYNGAP1 receive a genetic-specific labeling extension codes under Chromosomal abnormalities under the Q Chapter. This proposal was submitted to be heard by the CDC committee September 10-11, 2019. The request for these codes were DENIED and Considered NOT Exhaustive. Please see the email proposal request for the SYNGAP1 ICD-10 Code U91.1497.

During our 2018 International SYNGAP1 Conference our organization announced the project of pursuing an SYNGAP1 ICD-10 code. On January 22, 2020, the SYNGAP1 Foundation submitted the intent letter requesting an ICD-10 code to the Centers of Disease Control (CDC) for SYNGAP1-related Disorders. The letter was drafted by our Scientific Advisors, Jimmy Holder, Jr., MD, PhD (Texas Children's Hospital), Constance Smith-Hicks, MD, PhD. (Kennedy Krieger Institute) and Monica Dudley-Weldon (President/CEO/Founder-SYNGAP1 Foundation).

Our suggested code, F78.A1 included in the initial intent letter to the Centers of Disease Control and Prevention (CDC) reviewed by the ICD-10 Coordination and Maintenance Committee on March 17 - 18, 2020.  The SYNGAP1 Foundation invited Dr. Constance Smith-Hicks, our Scientific Advisory Board Member to present to the committee on behalf of the SYNGAP1 Community.

The Centers for Disease Control and Prevention (CDC) has officially assigned an ICD-10 code to SYNGAP1-related Disorders, effective from October 1, 2021. This significant development, anticipated since March 2020, is a crucial milestone for the SYNGAP1 community.

The SYNGAP1 diagnosis code, F78.A1, is categorized under "F," representing mental, behavioral, and neurodevelopmental disorders. The introduction of this specific ICD-10 code carries immense significance for SYNGAP1 patients and their families. It streamlines access to essential services, medications, and medical attention, making the journey for those affected by SYNGAP1-related Disorders more manageable.

SYNGAP1 family members or caregivers, it is imperative to inform your clinician about this newly assigned diagnosis code and request its inclusion in the medical record. The code, F78.A1, is a vital tool that enhances documentation accuracy, streamlines insurance reimbursement, supports administrative processes, aids in epidemiological tracking, and facilitates crucial research efforts.

In essence, the ICD-10 code is a global standard used for classifying and coding patient diagnoses, symptoms, and procedures, playing a pivotal role in the realm of healthcare administration, insurance, and medical research. This achievement is a testament to the dedication and advocacy of the SYNGAP1 community in their pursuit of improved healthcare and support for those affected by this condition.