Representation of human genes in SNOMED CT - updated

Thanks, Ed — I appreciate you sharing the data from your Expo work and the detailed analysis of band usage, as well as your analysis of both anatomy and morphology concept usage. That additional evidence is helpful and reinforces that chromosome bands already play a meaningful role in existing SNOMED content.

To clarify, the p- and q-arm level concepts are already in the process of being added. The remaining open questions relate to the scope and timing of broader band inclusion, including the handling of band spans and the absence of a comprehensive, license-free authoritative source that could support automated creation of band concepts. These areas warrant further investigation, and your suggestions provide useful input to that work.

In the meantime, I think it remains important that we proceed with the agreed elements of the proposal, including ongoing analysis of classification behavior, data entry, analytics, and interoperability WRT the addition of gene names and chromosomal abnormalites. Resolution of the band issues can proceed in parallel, but of course, the immediate addition of selected bands can be done. This is more of a resource issue than a disagreement on the value of adding all the bands.

The initial scope of the proposal was focused on the addition of gene names, but it has since morphed to include chromosomal aspects in general (necessarily), which vastly expanded the scope. This will require a phased approach, whcih would be communicated through normal channels such as additional briefing notes, early visibility notifications, etc.

1 Like