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 - TTL Representation

Draft as of 2026-03-09

Raw ttl | Download


@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "family-biological-relationship-vs"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<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 ?0.1.0</span></li></ul></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:url [
fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/ValueSet/family-biological-relationship-vs"^^xsd:anyURI ;
fhir:l <https://nih-ncpi.github.io/ncpi-fhir-ig-2/ValueSet/family-biological-relationship-vs>
  ] ; # 
  fhir:version [ fhir:v "0.2.0"] ; # 
  fhir:name [ fhir:v "FamilyBiologicalRelationshipVS"] ; # 
  fhir:title [ fhir:v "Biological Relationship Codes"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2026-03-09T20:11:59+00:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "NCPI FHIR Working Group"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "NCPI FHIR Working Group" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.ncpi-acc.org/about/working-groups" ]     ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "ncpi-fhir-ig@googlegroups.com" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "All codes from the GA4GH KIN ontology for family relationships. This ValueSet\nduplicates the GA4GH PedigreeRelationshipTypes ValueSet to maintain compatibility\nwith the GA4GH PedigreeRelationship profile while documenting NCPI-specific guidance.\n\n# NCPI-Recommended Codes for Maximum Interoperability\n\nFor maximum interoperability with other NCPI systems, prefer these three codes for\ngenetic relationships in pedigrees ([PED files](https://gatk.broadinstitute.org/hc/en-us/articles/360035531972-PED-Pedigree-format)):\n\n- [`KIN:027` (**\"isBiologicalMotherOf\"**)](https://ga4gh.github.io/pedigree-fhir-ig/CodeSystem-kin.html#kin-KIN.58027):\n   The relative is the biological mother of the patient.\n- [`KIN:028` (**\"isBiologicalFatherOf\"**)](https://ga4gh.github.io/pedigree-fhir-ig/CodeSystem-kin.html#kin-KIN.58028):\n   The relative is the biological father of the patient.\n- [`KIN:010` (**\"isMonozygoticMultipleBirthSiblingOf\"**)](https://ga4gh.github.io/pedigree-fhir-ig/CodeSystem-kin.html#kin-KIN.58010):\n   The relative and patient are monozygotic twins. For higher-order multiples\n   (triplets, quadruplets, etc.), create KIN:010 relationships between every\n   pair of individuals in the multiple. Since this is a non-directed relationship,\n   each pair requires two FamilyRelationship resources (A→B and B→A).\n\nRelationships are expressed from relative (parent) to patient (child):\n`relative`=parent, `patient`=child, , `relationship`=\"isBiologicalMotherOf\" or \"isBiologicalFatherOf\".\n\nFor other genetic relationships (grandparents, aunts, uncles, cousins), use these\nthree codes with inferred individuals to represent the relationship chain.\n\n# Additional KIN Codes\n\nThe full [KIN ontology](https://ga4gh.github.io/pedigree-fhir-ig/CodeSystem-kin.html)\nprovides 55 relationship codes including adoptive parents, step-relations, grandparents,\nand more. While all codes are available for use, NCPI systems may not fully support\nrelationships beyond the three core codes listed above.\n\n# Future Enhancement\n\nWhen FHIR R5/R6 support is added, we plan to use additional binding features to better\nexpress the preference for the three core codes while maintaining the full KIN ontology\nas an option."] ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [
fhir:v "http://purl.org/ga4gh/kin.fhir"^^xsd:anyURI ;
fhir:l <http://purl.org/ga4gh/kin.fhir>       ] ;
fhir:version [ fhir:v "0.1.0" ]     ] )
  ] . #