Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

## : Knowledge Base Codes - JSON Representation

Page standards status: Informative

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    {
      "resourceType" : "CodeSystem",
      "id" : "knowledge-base-cs",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem knowledge-base-cs</b></p><a name=\"knowledge-base-cs\"> </a><a name=\"hcknowledge-base-cs\"> </a><p>This case-insensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">gnomadv4.1exome<a name=\"knowledge-base-cs-gnomadv4.461exome\"> </a></td><td>gnomad v4.1 exome</td><td>gnomAD version 4.1 exome</td></tr><tr><td style=\"white-space:nowrap\">gnomadv4.1genome<a name=\"knowledge-base-cs-gnomadv4.461genome\"> </a></td><td>gnomad v4.1 genome</td><td>gnomAD version 4.1 genome</td></tr><tr><td style=\"white-space:nowrap\">clinvar-april2024<a name=\"knowledge-base-cs-clinvar-april2024\"> </a></td><td>clinvar april 2024</td><td>Clinvar April 2024 release</td></tr><tr><td style=\"white-space:nowrap\">clinvar-march2024<a name=\"knowledge-base-cs-clinvar-march2024\"> </a></td><td>clinvar march 2024</td><td>Clinvar March 2024 release</td></tr><tr><td style=\"white-space:nowrap\">1000genomesv4.1.0<a name=\"knowledge-base-cs-1000genomesv4.461.460\"> </a></td><td>1000genomes v4.1.0</td><td>1000genomes version 4.1.0</td></tr><tr><td style=\"white-space:nowrap\">civicv1.2.0<a name=\"knowledge-base-cs-civicv1.462.460\"> </a></td><td>civic v1.2.0</td><td>CIViC version 1.2.0</td></tr><tr><td style=\"white-space:nowrap\">graspv2.1.0<a name=\"knowledge-base-cs-graspv2.461.460\"> </a></td><td>grasp v2.1.0</td><td>GRASP version 2.1.0</td></tr><tr><td style=\"white-space:nowrap\">oncokbv1.5.2<a name=\"knowledge-base-cs-oncokbv1.465.462\"> </a></td><td>oncokb v1.5.2</td><td>OncoKB version 1.5.2</td></tr><tr><td style=\"white-space:nowrap\">pharmgkbv2.3.5<a name=\"knowledge-base-cs-pharmgkbv2.463.465\"> </a></td><td>pharmgkb v2.3.5</td><td>PharmGKB version 2.3.5</td></tr><tr><td style=\"white-space:nowrap\">phastconsv3.6.0<a name=\"knowledge-base-cs-phastconsv3.466.460\"> </a></td><td>phascons v.3.6.0</td><td>PhastCons version 3.6.0</td></tr></table></div>"
      },
      "extension" : [
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
          "valueCode" : "cg"
        },
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
          "valueCode" : "informative",
          "_valueCode" : {
            "extension" : [
              {
                "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom",
                "valueCanonical" : "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"
              }
            ]
          }
        }
      ],
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/knowledge-base-cs",
      "version" : "4.0.0-cibuild",
      "name" : "KnowledgeBaseCS",
      "title" : "Knowledge Base Codes",
      "status" : "active",
      "experimental" : true,
      "date" : "2025-11-08T00:09:50+00:00",
      "publisher" : "HL7 International / Clinical Genomics",
      "contact" : [
        {
          "name" : "HL7 International / Clinical Genomics",
          "telecom" : [
            {
              "system" : "url",
              "value" : "http://www.hl7.org/Special/committees/clingenomics"
            },
            {
              "system" : "email",
              "value" : "cg@lists.HL7.org"
            }
          ]
        }
      ],
      "description" : "This example code systems provides examples on how to properly display the knowledge base version number. Version numbers should always be followed by the letter v and calendar dates are displayed Month Day Year. For clarity the month SHALL be written in full.",
      "jurisdiction" : [
        {
          "coding" : [
            {
              "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
              "code" : "001",
              "display" : "World"
            }
          ]
        }
      ],
      "caseSensitive" : false,
      "content" : "complete",
      "count" : 10,
      "concept" : [
        {
          "code" : "gnomadv4.1exome",
          "display" : "gnomad v4.1 exome",
          "definition" : "gnomAD version 4.1 exome"
        },
        {
          "code" : "gnomadv4.1genome",
          "display" : "gnomad v4.1 genome",
          "definition" : "gnomAD version 4.1 genome"
        },
        {
          "code" : "clinvar-april2024",
          "display" : "clinvar april 2024",
          "definition" : "Clinvar April 2024 release"
        },
        {
          "code" : "clinvar-march2024",
          "display" : "clinvar march 2024",
          "definition" : "Clinvar March 2024 release"
        },
        {
          "code" : "1000genomesv4.1.0",
          "display" : "1000genomes v4.1.0",
          "definition" : "1000genomes version 4.1.0"
        },
        {
          "code" : "civicv1.2.0",
          "display" : "civic v1.2.0",
          "definition" : "CIViC version 1.2.0"
        },
        {
          "code" : "graspv2.1.0",
          "display" : "grasp v2.1.0",
          "definition" : "GRASP version 2.1.0"
        },
        {
          "code" : "oncokbv1.5.2",
          "display" : "oncokb v1.5.2",
          "definition" : "OncoKB version 1.5.2"
        },
        {
          "code" : "pharmgkbv2.3.5",
          "display" : "pharmgkb v2.3.5",
          "definition" : "PharmGKB version 2.3.5"
        },
        {
          "code" : "phastconsv3.6.0",
          "display" : "phascons v.3.6.0",
          "definition" : "PhastCons version 3.6.0"
        }
      ]
    }