NOTE: This post is about ICD-11. If you're looking for ICD-10, go here.
What is an ICD code?
ICD stands for The International Statistical Classification of Diseases and Related Health Problems. ICD codes help document a patient’s medical condition and provide information about the disease, diagnosis, all symptoms and related procedures. Each specific injury, disease, or condition within an ICD system has its own code. ICD codes are important for health insurance reimbursement, tracking the number of patients with a certain disease or condition, and research. Also, a SYNGAP1 ICD code helps doctors, insurance companies, and other providers take our patients' disease seriously. Only about 500 of the known 7,000 rare diseases have an ICD code so far.
How does an ICD code help SYNGAP1 patients?
Without an ICD code for SYNGAP1, the ICD systems and industry databases typically just see our patients as suffering from epilepsy and/or intellectual disability. This view overlooks the many different symptoms and challenges that SYNGAP1 entails. For example, if a request is put in for a Syngapian to have a sleep study without a SYNGAP1 ICD code, an insurance company may say that neither epilepsy nor intellectual disability help justify a sleep test for a SYNGAP1 patient. As a result, they may reject the request. However, with a SYNGAP1 ICD code, the insurer will be able to look up the disease and immediately know SYNGAP1 includes clear sleep issues and that they should approve the request.
Since 1946, the World Health Organization (WHO) has been in charge of ICD codes, and they publish new ICD versions as needed to keep the system up to date and effective. To get a sense of how often new ICD version are published, here is a useful image:
Currently, a new ICD version is published every 10-25 years. As shown above, the US is typically delayed in their adoption of the latest version. The US’s transition to ICD-10 (the version in use today) took the longest (23 years), and the US was the last member of the World Health Assembly (WHA) to implement this new version. We expect the US to again be delayed in their implementation of ICD-11, especially because ICD-10 only went into effect here 6 years ago.
ICD-11 is not simply an edited form of ICD-10; it is an entirely different system/version. For example, ICD-10 includes 14,400 codes for injuries, diseases and causes of death, while ICD-11 includes 55,000 of these codes. However, ICD-10 codes are not simply a subset of ICD-11 codes. ICD-10 has 11 groupings for disorders while ICD-11 has 21 groupings. There are also completely new chapter structures, diagnosis categories, and diagnosis criteria. It’s the first fully electronic version with new browsing, mapping and proposal tools. Overall, ICD-11 is more specific, sophisticated, advanced, and technologically friendly.
In 1992, WHO published their version of ICD-10. Each country could then incorporate ICD-10 into their country at their own pace. Also, each country could make certain adjustments or amendments as necessary to the published ICD-10 version in order to fit their country’s specific needs. So, the version WHO publishes acts like a template for countries. Part of why the US took so long to transition into using ICD-10 was that it had to be edited to fit the complexity of the US medical system. Also, insurance companies, hospitals, and healthcare providers resisted the transition due to the extra work and expenses it entailed. It’s estimated that a large institution (400+ beds) would acquire up to $5 million in costs to transition from ICD-9 to ICD-10.
SYNGAP1 did not have an ICD-10 code included in WHO’s published version in 1992. In order to get a SYNGAP1 ICD-10 code (F78.A1, effective Oct. 1, 2021), SRF had to work hard to get an amendment added to the US ICD-10 version for its inclusion. Therefore, this new SYNGAP1 ICD-10 code is only useful in the US. No other countries made that amendment, so no other countries have a SYNGAP1 code in their ICD-10 system.
Another important point to remember, as mentioned previously, is that ICD-11 is not simply an edited/updated form of ICD-10. It is an entirely different version with significantly more/different categories, sub-categories, and codes and it is more specific and technically advanced.
In other words:
So, SRF finds itself once again in the situation of advocating for and working towards making sure ICD-11 has a SYNGAP1 code.
ICD-11 will officially be available on January 1, 2022, which is when countries can begin implementing it. Until then, it is being edited and refined by WHO. Since the US adopted ICD-10 only six years ago, it’s reasonable to assume that it will take a number of years for it to adopt ICD-11. So the new SYNGAP1 code in the US will most likely be sufficient for a number of years to come. But other countries were much quicker to adopt ICD-10, and they will likely adopt ICD-11 quickly too.
Our goal is for SYNGAP1 to have an ICD-11 code from the start, worldwide. If we can get a SYNGAP1 code included in ICD-11 before it goes into effect in 2022, then that code will automatically be incorporated in every country’s version of ICD-11. Even though countries can use WHO’s ICD-11 as a template and edit it to fit their needs, if SYNGAP1 already has a code in the template, then a country would have to go out of their way to delete it from their database, which is very unlikely.
So, if we can get an ICD-11 code for SYNGAP1 before ICD-11 is in effect, we will be set up in the US and the rest of the world for the future. Even though we don’t have to worry about ICD-11 in the US for a few years and we have a code to use in the US in the meantime, getting an ICD-11 code now will save time in the future and set all countries up with a SYNGAP1 ICD code as they transition to using ICD-11. This way, we don’t have to make another US amendment, or an amendment to other countries’ version, and our code will apply to all countries this time.
The published ICD-11 is currently on a maintenance platform where people can log on and make proposals for changes, or make comments and suggestions. SRF has already submitted a proposal for SYNGAP1 inclusion and received our first round of feedback.
First, we had to agree on a label for SYNGAP1. We made sure to include as many people as possible in our decision. We sent out polls to parents, clinicians and the research community and debated back and forth. Since SYNGAP1 has such a range of symptoms and 97-98% of SYNGAP1 patients have ID while about 94% have epilepsy, we decided on SYNGAP1 Encephalopathy (disease that affects the brain). As a result of our decision, we proposed SYNGAP1 to go into the neurodevelopmental category of ICD-11.
We received feedback on our initial proposal that SYNGAP1 should actually be listed under “Conditions with disorders of intellectual development as a relevant clinical feature”. So, a SYNGAP1 Encephalopathy proposal is now submitted under its new category, waiting for further feedback. This latest proposal has already gone to the Medical Science Advisory Committee (MSAC), which is made up of five people who will review our proposal for its scientific validity.
If we are approved by the MSAC, there are a few next steps in the process. The three main groups that will review and revise our proposal are the Revision Steering Group, Topic Advisory Groups, and Workgroups. The Revision Steering Group is the most generic and it works on and leads the overall revision process. Topic Advisory Groups focus on revising a specific topic or chapter all together, for example a topic/chapter may be Mental Health or Rare Diseases. Workgroups focus on reviewing proposals within those topics/chapters.
Our proposal is currently in a stage where people, especially clinicians and researchers, can participate to show support for the inclusion of SYNGAP1 Encephalopathy in ICD-11.
See instructions below. OR, use this printable/shareable one-pager.
Please don’t delay; this is time sensitive. If you or your medical team have questions, please write us at email@example.com.
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Production of icd-11: The overall revision process. https://www.who.int/classifications/icd/ICDRevision.pdf. Accessed August 16, 2021.