Representing Patient Family Health History

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Type Standard / Implementation Specification Standards Process Maturity Implementation Maturity Adoption Level Federally required Cost Test Tool Availability
Standard for observations
Rating 3
Standard for observation values
Rating 3
Limitations, Dependencies, and Preconditions for Consideration Applicable Value Set(s) and Starter Set(s)
  • Some details around family genomic health history may not be captured by SNOMED CT®
  • See LOINC projects in the Interoperability Proving Ground.
  • For more information about observations and observation values, see Appendix II for an informational resource developed by the Health IT Standards Committee. 

Diagnosis and Conditions:

  • Problem Type 2.16.840.1.113883. (LOINC® code system)
  • Problem urn:oid:2.16.840.1.113883. (SNOMED CT® code system)

For genomic data:

  • Gene Identifier: HGNC Value Set (2.16.840.1.113883.4.642.2.468)
  • Transcript Reference Sequence Identifier: NCBI vocabulary
  • DNA Sequence Variation Identifier: NCBI vocabulary
  • DNA Sequence Variation: HGVS nomenclature (2.16.840.1.113883.4.642.2.392)

For family relationships and roles:


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:

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: