NCPI FHIR Implementation Guide v2
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: Biological Relationship Codes - JSON Representation

Draft as of 2025-12-03

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{
  "resourceType" : "ValueSet",
  "id" : "family-biological-relationship-vs",
  "text" : {
    "status" : "extensions",
    "div" : "<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 &#x1F4CD;</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 &#x1F4CD;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>"
  },
  "url" : "https://nih-ncpi.github.io/ncpi-fhir-ig-2/ValueSet/family-biological-relationship-vs",
  "version" : "0.2.0",
  "name" : "FamilyBiologicalRelationshipVS",
  "title" : "Biological Relationship Codes",
  "status" : "draft",
  "experimental" : false,
  "date" : "2025-12-03T22:26:51+00:00",
  "publisher" : "NCPI FHIR Working Group",
  "contact" : [
    {
      "name" : "NCPI FHIR Working Group",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.ncpi-acc.org/about/working-groups"
        },
        {
          "system" : "email",
          "value" : "ncpi-fhir-ig@googlegroups.com"
        }
      ]
    }
  ],
  "description" : "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.",
  "compose" : {
    "include" : [
      {
        "system" : "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl",
        "version" : "3.0.0",
        "concept" : [
          {
            "code" : "C96580",
            "display" : "Biological Mother"
          },
          {
            "code" : "C96572",
            "display" : "Biological Father"
          }
        ]
      },
      {
        "system" : "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
        "version" : "3.0.0",
        "concept" : [
          {
            "code" : "ITWIN",
            "display" : "identical twin"
          }
        ]
      }
    ]
  }
}