NCPI FHIR Implementation Guide v2
0.2.0 - ci-build

NCPI FHIR Implementation Guide v2 - Local Development build (v0.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Biological Relationship Codes - XML Representation

Draft as of 2026-03-09

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="family-biological-relationship-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet family-biological-relationship-vs</b></p><a name="family-biological-relationship-vs"> </a><a name="hcfamily-biological-relationship-vs"> </a><ul><li>Include all codes defined in <a href="file:///home/runner/work/pedigree-fhir-ig/pedigree-fhir-ig/output/CodeSystem-kin.html"><code>http://purl.org/ga4gh/kin.fhir</code></a><span title="Version is explicitly stated to be 0.1.0"> version &#x1F4CD;0.1.0</span></li></ul></div>
  </text>
  <url
       value="https://nih-ncpi.github.io/ncpi-fhir-ig-2/ValueSet/family-biological-relationship-vs"/>
  <version value="0.2.0"/>
  <name value="FamilyBiologicalRelationshipVS"/>
  <title value="Biological Relationship Codes"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2026-03-09T20:11:59+00:00"/>
  <publisher value="NCPI FHIR Working Group"/>
  <contact>
    <name value="NCPI FHIR Working Group"/>
    <telecom>
      <system value="url"/>
      <value value="https://www.ncpi-acc.org/about/working-groups"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="ncpi-fhir-ig@googlegroups.com"/>
    </telecom>
  </contact>
  <description
               value="All codes from the GA4GH KIN ontology for family relationships. This ValueSet
duplicates the GA4GH PedigreeRelationshipTypes ValueSet to maintain compatibility
with the GA4GH PedigreeRelationship profile while documenting NCPI-specific guidance.

# NCPI-Recommended Codes for Maximum Interoperability

For maximum interoperability with other NCPI systems, prefer these three codes for
genetic relationships in pedigrees ([PED files](https://gatk.broadinstitute.org/hc/en-us/articles/360035531972-PED-Pedigree-format)):

- [`KIN:027` (**&quot;isBiologicalMotherOf&quot;**)](https://ga4gh.github.io/pedigree-fhir-ig/CodeSystem-kin.html#kin-KIN.58027):
   The relative is the biological mother of the patient.
- [`KIN:028` (**&quot;isBiologicalFatherOf&quot;**)](https://ga4gh.github.io/pedigree-fhir-ig/CodeSystem-kin.html#kin-KIN.58028):
   The relative is the biological father of the patient.
- [`KIN:010` (**&quot;isMonozygoticMultipleBirthSiblingOf&quot;**)](https://ga4gh.github.io/pedigree-fhir-ig/CodeSystem-kin.html#kin-KIN.58010):
   The relative and patient are monozygotic twins. For higher-order multiples
   (triplets, quadruplets, etc.), create KIN:010 relationships between every
   pair of individuals in the multiple. Since this is a non-directed relationship,
   each pair requires two FamilyRelationship resources (A→B and B→A).

Relationships are expressed from relative (parent) to patient (child):
`relative`=parent, `patient`=child, , `relationship`=&quot;isBiologicalMotherOf&quot; or &quot;isBiologicalFatherOf&quot;.

For other genetic relationships (grandparents, aunts, uncles, cousins), use these
three codes with inferred individuals to represent the relationship chain.

# Additional KIN Codes

The full [KIN ontology](https://ga4gh.github.io/pedigree-fhir-ig/CodeSystem-kin.html)
provides 55 relationship codes including adoptive parents, step-relations, grandparents,
and more. While all codes are available for use, NCPI systems may not fully support
relationships beyond the three core codes listed above.

# Future Enhancement

When FHIR R5/R6 support is added, we plan to use additional binding features to better
express the preference for the three core codes while maintaining the full KIN ontology
as an option."/>
  <compose>
    <include>
      <system value="http://purl.org/ga4gh/kin.fhir"/>
      <version value="0.1.0"/>
    </include>
  </compose>
</ValueSet>