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 2025-12-03

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@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 "extensions" ] ;
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><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <a href=\"http://terminology.hl7.org/6.2.0/CodeSystem-v3-nciThesaurus.html\"><code>http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl</code></a><span title=\"Version is explicitly stated to be 3.0.0\"> version ?</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>C96580</td><td>Biological Mother</td></tr><tr><td>C96572</td><td>Biological Father</td></tr></table></li><li>Include these codes as defined in <a href=\"http://terminology.hl7.org/7.0.0/CodeSystem-v3-RoleCode.html\"><code>http://terminology.hl7.org/CodeSystem/v3-RoleCode</code></a><span title=\"Version is explicitly stated to be 3.0.0\"> version ?3.0.0</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a href=\"http://terminology.hl7.org/7.0.0/CodeSystem-v3-RoleCode.html#v3-RoleCode-ITWIN\">ITWIN</a></td><td>identical twin</td><td>The scoper and player are offspring of the same egg-sperm pair.</td></tr></table></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 "2025-12-03T22:26:51+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 "List of codes indicating the biological relationship between two individuals\nin a family. It is restrictive to encourage a standardized representation.\n\n# Code Selection Rationale\n\n## Parent Codes\n\nWe use the NCI Thesaurus here for the mother and father because its\ndefinitions are more precise.\n\n- [`C96572` (**\"Biological Father\"**)](https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C96572):\n   A male who contributes to the genetic makeup of his offspring through\n   the fertilization of an ovum by his sperm.\n- [`C96580` (**\"Biological Mother\"**)](https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C96580):\n   A female who contributes to the genetic makeup of her offspring\n   from the fertilization of her ovum.\n\nIn contrast, the parental family-role's codes are less refined:\n\n- [`NMTH` (**\"natural mother\"**)](https://terminology.hl7.org/6.5.0/CodeSystem-v3-RoleCode.html#v3-RoleCode-NMTH):\n   The player of the role is a female who conceives\n   or gives birth to the scoping entity (child).\n- [`NFTH` (**\"natural father\"**)](https://terminology.hl7.org/6.5.0/CodeSystem-v3-RoleCode.html#v3-RoleCode-NFTH):\n   The player of the role is a male who begets the\n   scoping entity (child).\n\nIn particular, **\"Biological Mother\"** excludes surrogates but\n`NMTH` is ambiguous. **\"Biological Father\"** specifies\nfertilization of an ovum by sperm, whereas `NFTH` uses the\nambiguous term \"begets,\" which could include other\nmechanisms.\n\n## Twin Codes\n\nFor twins, we use the RoleCode `ITWIN` code rather than the NCI `C73429`.\n\n- [`C73429` (**\"Identical Twin\"**)](https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C73429):\n   Either of the two offspring resulting from a shared ovum.\n- [`ITWIN` (**\"Identical Twin\"**)](https://terminology.hl7.org/6.5.0/CodeSystem-v3-RoleCode.html#v3-RoleCode-ITWIN):\n   The scoper and player are offspring of the same egg-sperm\n   pair.\n\nThough being \"offspring\" of the same fertilized egg is\nquestionable wording, we use `ITWIN` because it also allows\nother multiples (triplets, quadruplets, etc.) to be\nrepresented with the same code whereas `C73429` is only for\ntwins.\n\n# Note for upgrading to FHIR R5\n\nWhen we add support for R5 to the IG, we should add the rest of the\ncodes from <http://terminology.hl7.org/ValueSet/v3-FamilyMember>\nas additional bindings to guide users when not using one of the\nmain bindings.\n\nWe intend that when users need to use a code that is not in\nthe main bindings, they should default to the FamilyMember\nValueSet. However, in R4, there is no way to express this\nin the ValueSet itself."] ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [
fhir:v "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl"^^xsd:anyURI ;
fhir:l <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl>       ] ;
fhir:version [ fhir:v "3.0.0" ] ;
      ( fhir:concept [
fhir:code [ fhir:v "C96580" ] ;
fhir:display [ fhir:v "Biological Mother" ]       ] [
fhir:code [ fhir:v "C96572" ] ;
fhir:display [ fhir:v "Biological Father" ]       ] )     ] [
fhir:system [
fhir:v "http://terminology.hl7.org/CodeSystem/v3-RoleCode"^^xsd:anyURI ;
fhir:l <http://terminology.hl7.org/CodeSystem/v3-RoleCode>       ] ;
fhir:version [ fhir:v "3.0.0" ] ;
      ( fhir:concept [
fhir:code [ fhir:v "ITWIN" ] ;
fhir:display [ fhir:v "identical twin" ]       ] )     ] )
  ] . #