Representing Patient Family Health History

Comment

Need code system for family…

Need code system for family relationships, SNOMED CT and HL7 V3 Personal Relationship have good value sets for this.

NCBI genomic data resources

NCBI resources for sequences, including RefSeq, dbVar, and dbSNP,  can be found here:

https://www.ncbi.nlm.nih.gov/guide/all/

Are the value sets in ISA accounting for the decisions and imple

  • Personal Relationship Role Type”  Personal Relationship Role Type urn:oid:2.16.840.1.113883.1.11.19563
  • There is a discrepancy between this value set and FHIR 4.0.  More generally are the value sets in ISA accounting for the decisions and implementations being made with FHIR?
    • Definition:          
      • A relationship between two people characterizing their "familial" relationship
      • OID:       2.16.840.1.113883.1.11.19579 (for OID based terminology systems)
    • Title:      V3 Value SetFamilyMember
    • Name:  v3.FamilyMember
    • Defining URL:     http://terminology.hl7.org/ValueSet/v3-FamilyMember

Standard for observation…

Standard for observation values: should probably be Standard for observation values that are represented as codes (won't apply if they are free text or numbers).

Many of the details of Family Genomic History are not capturable by SNOMED CT. They will require the code systems provided by NCBI such as ClinVar, dbSNP, etc.

This is a greatly exaggerated assessment in the CMS Assessments. A large provider of IHE interfaces see SNOMED CT codes for 5% or fewer variables with multiple choice answers. Most are either text and/or local codes. 

feedback

Consider adding the following info to starter set

OMOP common data model is using SNOMED CT concepts (descendants of SNOMED CT term 125677006 (http://snomed.info/id/125677006))  to standardize family relationships (reference: https://github.com/OHDSI/CommonDataModel/wiki/FACT_RELATIONSHIP#conventions  ).