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?

10/6/2017: Response from Orphanet

After checking, I confirm the proposed modification of nomenclature from your contact. These modifications don't change the concepts nor the current mappings.
To sum up, here is the new configuration:

ORPHA34149 Autosomal dominant tubulointerstitial kidney disease (Disease)
ORPHA88949 MUC1-related autosomal dominant tubulointerstitial kidney disease (Clinical subtype) (formerly MCKD1)
ORPHA88950 UMOD-related autosomal dominant tubulointerstitial kidney disease (Clinical subtype) (formerly MCKD2)
ORPHA217330 REN-related autosomal dominant tubulointerstitial kidney disease (Clinical subtype) (formerly FJHN type 2)

Question: Do we change the FSN or inactivate and replace? In this case it is clear from the response that the "meaning" of the concept is unchanged. For organisms, we have adopted the policy that when taxonomic names change, it is not the organism that changes, but the term representing the organism, thus we rename the FSN for the concept and retain the "older" term as a hstorical synonym as the naming transition for searching convenience. Should we adopt the same policy for disorders, or do substantial name changes compel us to inactivate and replace.

Summary of past discussion:

• Update cycles for referential sources provide a challenge for SNOMED CT currency.
• Inactivation of concepts for "minor" FSN changes creates a lot of churn with little added value. Clarification of substantive change still required.
• Should SNOMED rely on a single source of truth for a specific health domain?
• How does SNOMED identify and select a source of truth? Are agreements needed?
• Characteristics of a preferred source of truth:
  • Should be responsive and have minimum characteristics that meet the changing needs of the terminology
  • Provide SI with ability to interact and influence them to meet our needs
  • Should not be any IP restrictions.
    
• SI editors cannot be expected to be "experts" in all domain areas. Need close collaboration with clinical reference groups.
• In the face of rapidly evolving domains, need to adhere to URU. If concepts cannot be found by users we have not met user requirements.
• Recommendation to not allow ASSOCIATED WITH relationships
  

Orphanet release cycle (from Maria Braithwaite):

Orphanet have an ongoing cycle of release for new definitions and changes to the website, they do not currently routinely inform me of a change to the name of a particular entry but I will ask them if it is possible to provide this information.  

We agreed that they will provide me with a list of changes (new additions, deprecated or obsolete entries) twice per year in April and October to allow me to make content edits before we close the release.  This will prevent problems I have had previously where a new concept has been published almost simultaneously with Orphanet deprecating their entry.

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?

Concerns have been expressed about the impending inactivation of existing WAS-A relationships:

"This topic has consulted with the CMAG and UKTC. The feedback from CMAG was that this should not be a priority. The size and efforts are small for content maintenance. The potential impact could be high if we make changes. The feedback from UKTC was to delay the changes until 2018 when they move to RF2. Furthermore, they still think it would be useful to provide information for WAS A by technical means centrally. "

See additional discussion

• There are existing "Acquired X (morphologic abnormality)" concepts, but these are very much analogous to the "Congenital X" morphologies that we are trying hard to get rid of. 
• "Acquired" and "Congenital" are not morphologies, but timeframes.  We do not have a way of denoting "All periods of life after birth" like we do for "Congenital".  If we did, then we could create a fully defined concept grouper of "Acquired disorder", which would subsume all concepts that had any OCCURRENCE value later than "At birth", but then it would require that all acquired disorders have a valid OCCURRENCE relationship.
• This approach might also open the door that all disorders that are not specifically “Congenital” have an OCCURRENCE relationship stating that it is required, which seems to be “overmodeling”.  While we can use the "Acquired deformity" morphology concepts currently, due to the lack of many useful subtypes of "Acquired X" morphologies, it would only be a partial solution. 
• The HoT is not in favor of recreating the problem in "Acquired" concepts that we are trying to resolve in the Congenital space.  However, the current guidance related to “Congenital” is not totally correct, because there are many conditions that can ONLY be congenital, even if the FSN does not state it (For example, aplasias or supernumerary structures).   So the guidance does need to be updated.
• One potential solution is to create a primitive grouper of "Acquired disorder" and then using that as the proximal primitive parent, adding the necessary relationships to make acquired disorders defined.  It is a kludge, but it would allow for full definition.

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.

Question:

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?