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F78.A1 the code for #SYNGAP1, turns 4, make sure we use it. #ICD10 for #RareDisease Update. #S10e185

Wednesday, October 1st, 2025. Week 40.

SYNGAP1-related disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht. Our code is F78.A1

Why does it matter and where are we now?

It helps us find patients and it helps doctors and companies find YOU. We aren’t where we should be.

TABLE 1. List of monogenic epilepsies with a syndrome-specific ICD-10 code, associated genes, and code implementation dates.

Syndrome ICD-10 Code Gene Effective Date21:

  • Rett syndrome F84.2 MECP2 10/01/2015
  • Glucose transporter protein type 1 deficiency syndrome (GLUT1-DS) E74.810 SLC2A1 10/01/2020
  • Cyclin-dependent kinase-like 5 deficiency disorder (CDD) G40.42 CDKL5 10/01/2020
  • Dravet syndrome G40.83 SCN1A 10/01/2020
  • SYNGAP1-related intellectual disability (SYNGAP1-ID) SYNGAP1 F78.A1 10/01/2021
  • MED13L syndrome Q87.85 MED13L 10/01/2023
  • Phelan-McDermid syndrome Q93.52 SHANK3 10/01/2023
  • SLC13A5 citrate transporter disorder E74.820 SLC13A5 10/01/2024
  • KCNQ2-related epilepsy G40.84 KCNQ2 10/01/2024
  • Kleefstra syndrome Q87.86 EHMT1 10/01/2024

5 Conclusion

Syndrome-specific ICD-10 codes for monogenic epilepsies are markedly underutilized, even for patients with confirmed molecular diagnoses and established clinical syndromes. In our cohort, fewer than two-thirds of eligible patients were ever documented with their syndrome-specific ICD-10 code, and when used, these codes were applied inconsistently across encounters, specialties, and time. Such gaps hinder the reliable identification of patients for precision therapies, clinical trials, and research studies, limiting the intended value of these codes. Although uptake of syndrome-specific ICD-10 codes showed gradual improvement over time, additional efforts, including automated and patient-driven coding support and integration of structured genetic data, are needed to ensure accurate and consistent use. Broader, multi-institutional studies will be essential to validate these findings and to guide strategies that maximize the clinical and research utility of syndrome-specific ICD codes as precision medicine advances.

Who else got them?

New DEE Codes effective 10/1/2025! https://www.cdc.gov/nchs/icd/icd-10-cm/files.html

CombinedBRAIN Rent a Neuro: https://combinedbrain.org/rent-a-neuroscientist/

CB Slide on ICD-10: https://docs.google.com/presentation/d/1wys1RLbJWBtK9eh7xSd_Lm-xwqbeZMSnM7xcCQznE8M/edit?usp=sharing

Everylife Roadmap: https://everylifefoundation.org/icd-code-roadmap/

REN ICD-10 page: https://www.rareepilepsynetwork.org/about-icd-codes

EVENTS!

CURE SYNGAP1 CONNECT
https://curesyngap1.org/curesyngap1connect/

SOCIAL MATTERS

NEWLY DIAGNOSED?
New families have resources here! https://cureSYNGAP1.org/Resources

Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple

Episode 185 of #Syngap10 #CureSynGAP1

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Below is a transcript from the video:

Mike Graglia

[ 00:00:00] Hello, Syngap land. Today is Wednesday, October 1st, 2025, week 40 of the year and this is the Cure Syngap1 podcast, episode 185. All I’m going to talk today about is ICD-10 codes, but keep listening. It’s super important. Exactly four years ago today, the Syngap Research Fund, through tireless advocacy and really hard work of a number of us, including Dr. Hans Schleck, secured a code for Syngap1 intellectual disability called F78.A1. F78.A1 was the code we got four years ago. We wrote a blog about it. Episode 8. We’re in episode 185 today. Episode 8 of the Syngap10 podcast. I talked about this and how I was excited it happened. So that’s how long ago this was. There’s a case study that’s been written about SRF’s work by the Every Life Foundation, links in the show notes. And there was a podcast by my dear friend, Amber, dear friends, Amber Freed and Effie Parks, talking about how incredibly important these are. So just trust me on this an ICD-10 code is incredibly important. And if you really want to know more, go into all those links and learn more. But the punchline is every disease you have, every affliction, broken arm, the flu, the whatever, has an ICD-10 code because that’s how the medical records work. Doctors type in a disease, a code pops up, it’s in. We didn’t have an ICD-10 code before 2021. Indeed, many diseases still don’t. These rare diseases, it takes time. But if you don’t have a code, then the system doesn’t know how to talk about you. And that’s important. Why does it matter? Why is it important? Well, it helps. Patient advocacy groups like ours find patients. Why does this patient in the hospital? Well, they have Syngap1. Oh, interesting. And they have epilepsy. And there’s lots of codes. There’s no limit to how many codes you can have, unfortunately. But it also helps companies find you. So it helps patient advocacy groups find patients. But it helps companies find you and remember, the goal here is better medicine. How do you get better medicine? Through trials. How do trials work? People get recruited to be in them. How do companies find people to recruit into trials? With the ICD-10 code. So now that we have it, we have to use it and our code is four years old. Today is October 1st. The reason I’m giving this talk on October 1st is every year if people require or think they need a new ICD-10 code, they go to the CDC and they jump through all these hoops and they ask for a code to be approved. This is an incredibly painful and needlessly so, by the way, painful process. And not everybody who wants a code gets a code. Things are, I think, getting better, as you will see in this podcast, but back when we went through it, man, it was tough. But we did the hard work. And the question is how are we doing with that code? Does everyone have that code in the record? How many Syngapians have we found with the code? How well are we using the code? And the answer, unfortunately, is not as good as it should be. So what I want to say to everybody today is F78.81. The next time you see a doctor, and I’m seeing two doctors on Thursday. Make sure you say to them, ‘Hey, can you please make sure for this encounter note, you put Syngap1 as one of his or her diagnoses and add F78.A1. You say that when you go to the hospital. You say that when you go to your pediatrician. You say that when you go to a neurologist. You want this code plastered throughout your patient’s medical record so that, in one year, 10 years, 50 years. Who knows? When someone’s looking for a Syngapian, the first thing they’re going to do to find a Syngapian in their health system, in their network, on their coast, near their clinical trial site, whatever, is look for that code. So we, as parents, because the doctors are just maxed out, they got too much to do. We, as parents, have to say to them, doctor, please remember to put in the Syngap1 ICD-10 code. It is F78.81. Now, why do I think we have a problem? Well, Dr. Dennis Lal, who is an incredibly forward-thinking researcher, just put out a paper. In fact, it’s still in preprint. So when they write a paper, they submit it to a fancy journal. And the journals go back and forth and make them change stuff. But when they think their paper’s pretty good, they put it on the pre-print archive so people can read it before the journal finally publishes it. Because that can take months. I mean, it’s… sort of a broken system. Links in the show notes to the preprint. But Dr. Lal’s post basically says, ‘Hey, all these rare disease groups work super hard to get codes. But then what happens to these codes? And he did some analysis. Before I tell you about his analysis, I just want to point out, table one of that paper, he goes through codes. For genetic diseases. Rett syndrome got their code in 2015. That was 10 years ago. GLUT1, which is another huge disease, got their code in 2020. That was five years ago. I think it’s the CDKL5. CDKL5 also got it in 2020, as did Dravet. So in 2020, GLUT1, CDKL5, and Dravet got a code. Those are big diseases. Well-organized, well-funded. In 2021. We got a code. So either those other groups are slow or we were crazy fast and the answer is generally B. The answer is B. We got a code because we were really ahead of the curve on this one. Hans gets a lot of credit and when Hans teamed up with the fund. We were able to pool our resources, get a lot done. And it’s really a testament to SRF that we got that code in 2021. Since then, MED13L and Phelan-McDermott syndrome, SHANK3 got theirs in 2023, SLC13A5, Hakim and KCNQ2, and Kleefstra got theirs in 2024. So a handful of diseases got their codes over the years, and we were really an early victory here in 2021. That’s why we got that study in the ELF Roadmap. Links in the show notes. But,The conclusion of Dr. Lal’s paper says that syndrome-specific ICD-10 codes for monogenic epilepsies are markedly underutilized. Monogenic, one gene is causing the problem, like SYNGAP1. Even patients with confirmed molecular diagnosis, that’s us, genetic testing, and established clinical syndromes. In our cohort, fewer than two-thirds of eligible patients were ever documented with their Syngap, with their ICD-10 code. And when used, these codes were applied inconsistently across encounters, specialties, and time. Such gaps hinder the reliable identification of patients for precision therapies, ASO gene therapies, clinical trials, research studies, limiting the intended value of these codes. Although uptake of syndrome-specific ICD-10 codes showed general, showed gradual improvement over time, additional efforts, including automated patient-driven coding support, and integration of structured genetic data are needed to ensure accurate and consistent use. I love it. I love, you know, the scientists, I love the way they write. Although, blah, blah, uptake, including automated and patient-driven coding support. What does he mean by patient-driven coding support? Got to write F78.A1 on your arm with a sharpie, go into the appointment and say, ‘Doctor, I love you very much. Thanks for your help. I’m not leaving until I see you type F78.A1 into my chart.’ Into whatever you’re using for the electronic health record. I need to see F78 . 81. And by the way, if you’re a Syngap family and you’re on Citizen Health. Well, if you’re not on Citizen Health, what on earth are you thinking? That you should go into Citizen Health. Ask the AI advocate to go through your records and say, ‘Hey, which ICD-10 codes can you find in my record? It’ll pull it up like that.’ And then can you find F78.81? And then you’ve got a gotcha on your doctor. All right. So there’s a list of codes of people who just got them this year. Apparently, someone at the CDC has found religion and figured out that they need to stop being difficult and start helping sick kids. So huge congratulations. I list all these codes and in most cases, some kind of online collateral. A couple people don’t have online collateral, which is confusing to me. But anyway, FoxG1, Kabuki, USP7, CTNMB1, SCN2A, CACNA1A, SLC6A1, STXBP1, DLG4, and Usher. All got codes. All got codes. A lot of them were Q codes, which is a new code category for diseases with a genetic cause. So he’s like, ‘Oh, shouldn’t we have a Q code? We don’t want to, we’re good. We got our code. Our code is an F70.F78 specifically, and that is for intellectual disability. So one of the reasons we got our code so early is Syngap1 is presumed to be a cause of a lot of intellectual disability. So that was kind of interesting. If you’re a PAG leader watching this, I just want to point you to some resources. Combined Brain has a rent-a-neuroscientist, and if you click on that… link I give. And then the next link is if you click on ICD-10 code, you go to a slide on their services. Combined Brain has helped a lot of people through their Rent-A-Neuroscientist program get their ICD-10. It’s a huge resource. The Every Life Foundation has a roadmap for getting ICD-10 codes. And REN, the Rare Epilepsy Network, has an ICD-10 page. So a lot of good stuff out there, a lot of resources. So congratulations to our friends who got ICD-10 codes. Today is ICD-10 day. which means October 1st. We are four years old, guys. Make sure your code is in your kid’s record. It will help. Everyone over time. ICD-10 lecture complete. Syngap family. Scramble for Syngap is this weekend in Greer, South Carolina. It’s going to be an amazing golf event. Thank you, Julie Miles, the conference is December 4th and 5th. Tomorrow is October 1st, guys. We’re two months away from the conference. Make sure you register. Make sure you book a room. Links in the show notes. Get over there. CURE Syngap1 Connect is where you can register with us. Please like this content on LinkedIn, on YouTube. Share it with people. Share it with your family. Share it with your doctors. ICD-10 code F78.81. Thanks for listening. Have a wonderful week. Congratulations again to all the great people and incredible amount of hard work that went into getting these codes.