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

ValueSet: Biological Relationship Codes

Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/ValueSet/family-biological-relationship-vs Version: 0.2.0
Draft as of 2026-03-09 Computable Name: FamilyBiologicalRelationshipVS

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):

Relationships are expressed from relative (parent) to patient (child): relative=parent, patient=child, , relationship="isBiologicalMotherOf" or "isBiologicalFatherOf".

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 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.

References

Logical Definition (CLD)

 

Expansion

Expansion performed internally based on codesystem Family History Relations Ontology v0.1.0 (CodeSystem)

This value set contains 55 concepts

SystemCodeDisplay (en)JSONXML
http://purl.org/ga4gh/kin.fhir  KIN:994Man
http://purl.org/ga4gh/kin.fhir  KIN:993Woman
http://purl.org/ga4gh/kin.fhir  KIN:996Male
http://purl.org/ga4gh/kin.fhir  KIN:995Female
http://purl.org/ga4gh/kin.fhir  KIN:998Person
http://purl.org/ga4gh/kin.fhir  KIN:997Sex
http://purl.org/ga4gh/kin.fhir  KIN:999Domain Entity
http://purl.org/ga4gh/kin.fhir  ThingThing
http://purl.org/ga4gh/kin.fhir  KIN:001isRelative
http://purl.org/ga4gh/kin.fhir  KIN:002isBiologicalRelative
http://purl.org/ga4gh/kin.fhir  KIN:003isBiologicalParent
http://purl.org/ga4gh/kin.fhir  KIN:004isSpermDonor
http://purl.org/ga4gh/kin.fhir  KIN:005isGestationalCarrier
http://purl.org/ga4gh/kin.fhir  KIN:006isSurrogateOvumDonor
http://purl.org/ga4gh/kin.fhir  KIN:007isBiologicalSibling
http://purl.org/ga4gh/kin.fhir  KIN:008isFullsibling
http://purl.org/ga4gh/kin.fhir  KIN:009isTwin
http://purl.org/ga4gh/kin.fhir  KIN:010isMonozygoticTwin
http://purl.org/ga4gh/kin.fhir  KIN:011isPolyzygoticTwin
http://purl.org/ga4gh/kin.fhir  KIN:012isHalfSibling
http://purl.org/ga4gh/kin.fhir  KIN:013isParentalSibling
http://purl.org/ga4gh/kin.fhir  KIN:014isCousin
http://purl.org/ga4gh/kin.fhir  KIN:015isMaternalCousin
http://purl.org/ga4gh/kin.fhir  KIN:016isPaternalCousin
http://purl.org/ga4gh/kin.fhir  KIN:017isGrandparent
http://purl.org/ga4gh/kin.fhir  KIN:018isGreatGrandparent
http://purl.org/ga4gh/kin.fhir  KIN:019isSocialLegalRelative
http://purl.org/ga4gh/kin.fhir  KIN:020isParentFigure
http://purl.org/ga4gh/kin.fhir  KIN:021isFosterParent
http://purl.org/ga4gh/kin.fhir  KIN:022isAdoptiveParent
http://purl.org/ga4gh/kin.fhir  KIN:023isStepParent
http://purl.org/ga4gh/kin.fhir  KIN:024isSiblingFigure
http://purl.org/ga4gh/kin.fhir  KIN:025isStepSibling
http://purl.org/ga4gh/kin.fhir  KIN:026isPartner
http://purl.org/ga4gh/kin.fhir  KIN:027isBiologicalMother
http://purl.org/ga4gh/kin.fhir  KIN:028isBiologicalFather
http://purl.org/ga4gh/kin.fhir  KIN:029isMitochondrialDonor
http://purl.org/ga4gh/kin.fhir  KIN:030isConsanguineousPartner
http://purl.org/ga4gh/kin.fhir  KIN:031hasSex
http://purl.org/ga4gh/kin.fhir  KIN:032isBiologicalChild
http://purl.org/ga4gh/kin.fhir  KIN:033hasBiologicalChild
http://purl.org/ga4gh/kin.fhir  KIN:034hasBiologicalParent
http://purl.org/ga4gh/kin.fhir  KIN:035hasGrandparent
http://purl.org/ga4gh/kin.fhir  KIN:036isGrandchild
http://purl.org/ga4gh/kin.fhir  KIN:037hasGrandchild
http://purl.org/ga4gh/kin.fhir  KIN:038isOvumDonor
http://purl.org/ga4gh/kin.fhir  KIN:039hasGestationalCarrier
http://purl.org/ga4gh/kin.fhir  KIN:040hasBiologicalFather
http://purl.org/ga4gh/kin.fhir  KIN:041hasBiologicalMother
http://purl.org/ga4gh/kin.fhir  KIN:042hasOvumDonor
http://purl.org/ga4gh/kin.fhir  KIN:043hasSurrogateOvumDonor
http://purl.org/ga4gh/kin.fhir  KIN:044hasSpermDonor
http://purl.org/ga4gh/kin.fhir  KIN:045hasGreatGrandParent
http://purl.org/ga4gh/kin.fhir  KIN:046hasParentalSibling
http://purl.org/ga4gh/kin.fhir  topObjectPropertytopObjectProperty

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code