Proper terming of "Abnormality of X (body structure)"

I lean toward the FSN always including "structural" whenever the underlying modelling is going to limit the nature of the abnormalities that can be classified below it to those with a morphological/structural abnormality present. For consistency of subsequent lexical indexing, this naming convention should therefore also apply even when it would be reasonable (or clinically conventional) to discount the possibility of the semantic scope of the term also including "functional abnormality in the presence of grossly normal morphology".

There are, however, many cases where clinicians use the terms "X abnormality" or "Abnormality of X" in the sense of there being either a structural or a functional abnormality, or both simultaneously. For example the term "cardiac abnormality" by convention covers all of valvular stenosis, ventricular hypertrophy, arrhythmia and congestive cardiac failure. A "pancreatic abnormality" could be a tumour or a functional problem secreting digestive enzymes. "Bladder abnormality" can mean any of a tumour, stone, delayed emptying or detrusor instability.

Where such abstractions exist but are agnostic to whether the abnormality is morphological or functional, and where they are in common clinical use, the case for them to persist in SNOMED's taxonomy as groupers is strong (though how to model them may be an 'interesting question'). But they raise a rlated naming convention question: should they be left as "X abnormality", as per usual clinical terming convention, or should the FSN at least be explicitly "functional or structural abnormality of X"? My preference would I think be the latter.

I think we should keep the concepts the non-specific grouper concepts. I worry in an effort to make everything absolutely unambiguous SNOMED will end up not reflecting real world language and move away from open world semantics.
But like Jeremy says, modelling this distinction such that they subsume as expected is an interesting problem...
I guess it depends if :

• The functional abnormality is a necessary consequence of a structural abnormality ) in which case is there any difference
• The funcational abnormality exists in a "normal structure".

There's a mix of findings and disorders here too by the looks..

There's concepts like

• 111970001|Abnormal cardiovascular function| where function exists in the term, and they are findings interpreting function.
• And 461099008|Cardiovascular abnormality due to patent ductus arteriosus (disorder)| - where the morphology is on the "due to" target.

Sometimes it looks like Abnormal just means "disease.

Overall, I agree with Matt's comments. 

Coming from the genomics space, there is likely an intented context for these phenotypic terms, which not only appears to be structural but could be congenital.

While SNOMED could massage the FSN's and tweak the modeling, I think it would be helpful to understand how these terms have been used and the intented meaning.

Can we get more background information or is there already a source?

I agree with the comments stated thus far by Jeff, Matt, and Jeremy. 

To expand the scope, abnormality could also represent a change in content and/or volume (e.g. 9630001000004104 | History of semen abnormality (situation) |. While I think it could be difficult to identify all the different permutation implied by the use of the term "abnormality" in the FSN, more fully specifying the definition as being structural, functional, etc. may help to mitigate the amount of ambiguity in the largest majority of the content. 

Browsing through the terms in our national hospital thesaurus of diagnoses, there are close to 500 concepts that mention afwijking (abnormality), but only a handful terms that specify that the abnormality is functional and 0 that specify it is structural. After struggling to form an opinion, I have only formed more questions:

• What do we gain when we start to make this distinction in SNOMED explicit? Is there a use case from a user perspective? 
  • As Jeff says: we need more background information on the requirement from the phenotypic concepts being promoted.
  • Could we use a similar scenario as for intentions: only state the intention if there is a need to distinguish from counterpart concepts with a different intention?
• For existing content: how do we determine whether they are necessarily structural, necessarily functional, dealing with content and/or volume, or any of the above?

The concepts in question originate from HPO where many of the term simply state "abnormality of X" without an accompanying text definition to qualify whether the term represents either structure of function.  These were modeled into SNOMED terms by an external group that added the ASSOCIATED MORPHOLOGY = "Morphologically abnormal structure" relationship. In some cases, there are terms in HPO that act as parents for structural and functional subtypes.

As Matt Cordell suggested, where there is no HPO definition, we could keep these agnostic as to structure or function by removing the morphology relationship, but then they may become equivalent to "Disease of X", where such a concept already exists.  

For those concepts where it is clear from the definition or the structure of the HPO taxonomy that a concept refers to a structural abnormality, should SNOMED align with the HPO description?  They use the following patterns:  "Abnormal morphology of X", "Abnormality of X morphology", Structural abnormality of X" (rare), "Abnormal X structure" (rare)?  Or should SNOMED adhere to its own terming (i.e. Structural abnormality of X)?

SNOMED has not used terms to distinguish between structure and function abnormalities in the vast majority of cases (e.g. 253339007 |Right atrial abnormality (disorder)|; parent 128599005 |Structural disorder of heart (disorder)|) but has modeled these almost exclusively as structural.  

To answer Feikje Hielkema-Raadsveld question, because HPO uses "Abnormality of X" terms occasionally as groupers and occasionally as structural concepts, we do now need to make the distinction where it is known.  WRT to existing content, there are a little over 400 Abnormality of X terms that would need to be reviewed in light of the promotion of HPO content. 

WRT to Jeremy Rogers comment on the agnostic terms, as agnostic groupers concepts would need to be termed as "Structural and/or functional abnormality of X" to avoid the notion of an exclusive OR.  Or they could be left vague, which would work if all of the existing content was made explicit to the underlying model where an associated morphology was present.