Based on requests from UKTC:

The concepts are 
726018006|Autosomal dominant medullary cystic kidney disease (disorder)|
723373006|Autosomal dominant medullary cystic kidney disease with hyperuricemia (disorder)|
726017001|Autosomal dominant medullary cystic kidney disease without hyperuricemia (disorder)|

The FSN for these concepts align with Orphanet, OMIM and Genetics Home Reference.  The request from the UKTC is 

All terms should ideally be replaced by autosomal dominant tubulointerstitial kidney disease (ADTKD) (see KDIGO report). The above terms are not necessarily the same and don’t really reflect the improved clinical descriptions of the disease based on genetics. ADTKD reflects the inheritance, common phenotype caused by different mutations and can be used for suspected cases. This is well described in the KDIGO report. They also make the point it is a simple term to use and that MCKD is frankly inaccurate!

As above. I would favour not using these terms MCKD 1 and 2 even though they may be commonly used at present. ADTKD-UMOD or ADTKD-MUC1 would be the preferred names. The list of genes is also increasing making a single term more appropriate.

ADTKD would be the parent and the children would be ADTKD associated with UMOD mutations and ADTKD associated with MUC1 mutations.

It is anticipated that this type of request will become more frequent as the move towards genomics continues.

Question: Do we go with the current naming convention to align with Orphanet (our current "Source of truth") or try to keep pace with the evolving nature of content in this area? Do we change the FSN or inactivate and replace?

 This was initiated from a request for “Reduction of soft tissue for auricular prosthesis”.  There is currently the concept 410771003|   Surgical procedure for clinical finding and/or disorder (procedure), which has 156 direct descendents.  The use of the HAS FOCUS attribute allows for the reason for the procedure to be modeled.  A recent set of diagnostic imaging procedures that included the reason the procedure was being done resulted in an editorial decision to disallow the future addition of precoordinated reasons for procedure.  Recent discussions with editors have questioned whether this is necessary given the spate of requests for this type of concept. 

Concerns from the HoT include:

1) the potential high number of precoordinated terms that would be created if every reason for a procedure were allowed;

2) the reason for a procedure should be captured as a separate clinical finding to document that the “diagnosis” has been established. Precoordinating the reason precludes the need for separately documenting that the condition exists in the patient;

3) some reasons provided for procedures may be so vague as to provide little additional information.  

A question related to the SI position on the classification of "Apps" as devices. ISO has recently developed guidance on this, stating that computer programmes/Apps are for all intents and purposes medical devices if used for medical purposes.

What should be the SI position on this? Modeling impacts?

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A number of requests related to findings related to surgical skin wounds and pressure injury findings reveal an issue with current structure.  Most of the requested terms are Findings related to skin wounds, but currently 262526004 |Wound of skin (disorder)|is a disorder, so cannot be used as a parent for findings related to skin wounds.  There is currently 225552003 |Wound finding (finding)|, but it is not specific to skin.  262526004 |Wound of skin (disorder)|currently has 65 immediate subtypes, many of which could reasonably be viewed as findings (e.g. “Abrasion of X”).  

Need to make a determination of whether observations related to wounds (i.e. color, discharge, odor) should be placed in a subhierarchy different from the "Wound (disorder)" itself.

Currently we have many concepts in the specimen hierarchy that include “from patient”as well as those that do not include it as an ancestor.  Since the subject of record is the default for specimens, we would like to retire these apparent duplicates, but then we run into the problem of specimens derived from other sources such as donors or normal control patients. 

They cannot be subtypes if the intended meaning is “subject of record”..or can they, since the context is implied?  How do we structure the specimen hierarchy to account for this? 

What are the analytical implications of having different sources for specimens as subtypes of one another?

The Oxford comma is a comma added after the penultimate term in a list, e.g. For example "Disorder of head, neck, and shoulders". The purpose if its use is to make explicit the fact that the terms are part of a list. The editorial guide is silent about its use, but the example provided does not use the Oxford comma.

There are currently 347 FSNs in SNOMED CT that use the Oxford comma. Most of these are terms obtained from other terminology, such as ICD and nursing. There are 2500 FSNs that contain comma delimited lists, but do not use the Oxford comma.

Should SNOMED CT be consistent in the use of this grammar mark or maintain fidelity to the original source of the terms that do use it?