Hi Matt,

On a historic note, back when Kevin Hughes was developing the HL7 V3 pedigree standard, we recognized that you can track pedigrees using codes or pointers. The challenge with using codes was that you potentially need to add quite a few - for instance, Gay (copied here) tells me that 'mormor' in Swedish is "mother's mother"; 'morfar' in Swedish is "mother's father", etc, and I don't know if these types of concepts are in roleCode either. In the early days of CCD, we added an 'sdtc:id' extension, so that we could construct a pedigree more as a graph, similar to what Kevin Hughes was doing in V3. 

Anyhow, that's probably not answering your question about the need for gender-neutral role codes (which to me makes sense)...


On Fri, Jun 17, 2022 at 6:58 AM ClinGenomics - HL7 ListServ <clingenomics@lists.hl7.org> wrote:

kmpower@cmh.edu to clingenomics@lists.hl7.org

Hi Matt,

 

I can say that the work group hasn’t talked about this space in a very long time. And while we have an interest, the FamilyMemberHistory resource is owned by the Patient Care working group, so we should probably also include them:

 

http://build.fhir.org/familymemberhistory-definitions.html#FamilyMemberHistory.relationship

 

If any other CG folks have a comment, feel free to comment.

 

kevin

 

From: ClinGenomics - HL7 ListServ <clingenomics@lists.hl7.org>
Date: Thursday, June 16, 2022 at 2:14 PM
To: clingenomics@lists.hl7.org <clingenomics@lists.hl7.org>
Subject: [clingenomics] RoleCode codeSystem terms?

CAUTION: This message originated from outside of Children's Mercy Hospital. Please do not open untrusted links or attachments. 

 

mszczepa@epic.com to clingenomics@lists.hl7.org

Hey all—after talking to Structured Docs this morning I wrote this Jira ticket about the RoleCode codeSystem (see below). Out of curiosity, has Clinical Genomics ever looked at this before? Since (AFAIK) one primary use case for this codeSystem is genetics and a lot of desire to make this value set more consistent is coming from there, Structured Docs was wondering whether anyone on CG might have more to say about this.

 

Thanks!

 

Description

The RoleCode code system seems fairly inconsistent about the way family relationship types interact with gender. For instance, we have separate codes for “brother”, “sister”, and “sibling” (as well as for “niece,” “nephew,” and “niece/nephew” with no implications about gender) but only codes for “aunt” and “uncle” (no gender-neutral “sibling of parent” concept), and for your parent’s sibling’s children, we only have the gender-neutral term “cousin” (presumably because English lacks distinct terms for “male cousin” and “female cousin”, although some languages capture that distinction!)

For genetics, for instance, there is a real desire for a gender-neutral “sibling of parent” term. Likewise, this codeSystem forms the basis of the Personal and Legal Relationship Role Type value set, so we may want to consider addressing this sometime around fixing that value set to better align with FHIR (per CDA-1768).

 

Matt Szczepankiewicz

Epic | Software Developer | Care Everywhere

📞 +1 608-271-9000

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