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

## : Genetic Therapeutic Implications - JSON Representation

Page standards status: Trial-use | Maturity Level: 2

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    {
      "resourceType" : "ValueSet",
      "id" : "genetic-therapeutic-implications-vs",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet genetic-therapeutic-implications-vs</b></p><a name=\"genetic-therapeutic-implications-vs\"> </a><a name=\"hcgenetic-therapeutic-implications-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://loinc.org\"><code>http://loinc.org</code></a><span title=\"Version is not explicity stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"https://loinc.org/LA10315-2/\">LA10315-2</a></td><td>Ultrarapid metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA25391-6/\">LA25391-6</a></td><td>Normal metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA25390-8/\">LA25390-8</a></td><td>Rapid metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA10317-8/\">LA10317-8</a></td><td>Intermediate metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA9657-3/\">LA9657-3</a></td><td>Poor metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA19542-2/\">LA19542-2</a></td><td>Low Risk</td></tr><tr><td><a href=\"https://loinc.org/LA19541-4/\">LA19541-4</a></td><td>High Risk</td></tr><tr><td><a href=\"https://loinc.org/LA6676-6/\">LA6676-6</a></td><td>Resistant</td></tr><tr><td><a href=\"https://loinc.org/LA6677-4/\">LA6677-4</a></td><td>Responsive</td></tr><tr><td><a href=\"https://loinc.org/LA9660-7/\">LA9660-7</a></td><td>Presumed resistant</td></tr><tr><td><a href=\"https://loinc.org/LA9661-5/\">LA9661-5</a></td><td>Presumed responsive</td></tr><tr><td><a href=\"https://loinc.org/LA6682-4/\">LA6682-4</a></td><td>Unknown Significance</td></tr><tr><td><a href=\"https://loinc.org/LA6675-8/\">LA6675-8</a></td><td>Benign</td></tr><tr><td><a href=\"https://loinc.org/LA6674-1/\">LA6674-1</a></td><td>Presumed Benign</td></tr><tr><td><a href=\"https://loinc.org/LA9662-3/\">LA9662-3</a></td><td>Presumed non-responsive</td></tr><tr><td><a href=\"https://loinc.org/LA25392-4/\">LA25392-4</a></td><td>Increased function</td></tr><tr><td><a href=\"https://loinc.org/LA25393-2/\">LA25393-2</a></td><td>Normal function</td></tr><tr><td><a href=\"https://loinc.org/LA25395-7/\">LA25395-7</a></td><td>Decreased function</td></tr><tr><td><a href=\"https://loinc.org/LA25394-0/\">LA25394-0</a></td><td>Poor function</td></tr></table></li><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</code></a><span title=\"Version is not explicity stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://snomed.info/id/444734003\">444734003</a></td><td>Does not meet eligibility criteria for clinical trial (finding)</td></tr><tr><td><a href=\"http://snomed.info/id/399223003\">399223003</a></td><td>Patient eligible for clinical trial (finding)</td></tr></table></li></ul></div>"
      },
      "extension" : [
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
          "valueCode" : "cg"
        },
        {
          "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
          "valueInteger" : 2,
          "_valueInteger" : {
            "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/StructureDefinition/structuredefinition-standards-status",
          "valueCode" : "trial-use",
          "_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/ValueSet/genetic-therapeutic-implications-vs",
      "version" : "4.0.0-cibuild",
      "name" : "GeneticTherapeuticImplicationsVS",
      "title" : "Genetic Therapeutic Implications",
      "status" : "active",
      "experimental" : false,
      "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" : "Value Set for terms that describe a predicted ramification based on the presence of associated molecular finding(s).",
      "jurisdiction" : [
        {
          "coding" : [
            {
              "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
              "code" : "001",
              "display" : "World"
            }
          ]
        }
      ],
      "copyright" : "This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.\nThis value set includes content from SNOMED CT, which is copyright © 2002+ International Health Terminology Standards Development Organisation (IHTSDO), and distributed by agreement between IHTSDO and HL7. Implementer use of SNOMED CT is not covered by this agreement.",
      "compose" : {
        "include" : [
          {
            "system" : "http://loinc.org",
            "concept" : [
              {
                "code" : "LA10315-2",
                "display" : "Ultrarapid metabolizer"
              },
              {
                "code" : "LA25391-6",
                "display" : "Normal metabolizer"
              },
              {
                "code" : "LA25390-8",
                "display" : "Rapid metabolizer"
              },
              {
                "code" : "LA10317-8",
                "display" : "Intermediate metabolizer"
              },
              {
                "code" : "LA9657-3",
                "display" : "Poor metabolizer"
              },
              {
                "code" : "LA19542-2",
                "display" : "Low Risk"
              },
              {
                "code" : "LA19541-4",
                "display" : "High Risk"
              },
              {
                "code" : "LA6676-6",
                "display" : "Resistant"
              },
              {
                "code" : "LA6677-4",
                "display" : "Responsive"
              },
              {
                "code" : "LA9660-7",
                "display" : "Presumed resistant"
              },
              {
                "code" : "LA9661-5",
                "display" : "Presumed responsive"
              },
              {
                "code" : "LA6682-4",
                "display" : "Unknown Significance"
              },
              {
                "code" : "LA6675-8",
                "display" : "Benign"
              },
              {
                "code" : "LA6674-1",
                "display" : "Presumed Benign"
              },
              {
                "code" : "LA9662-3",
                "display" : "Presumed non-responsive"
              },
              {
                "code" : "LA25392-4",
                "display" : "Increased function"
              },
              {
                "code" : "LA25393-2",
                "display" : "Normal function"
              },
              {
                "code" : "LA25395-7",
                "display" : "Decreased function"
              },
              {
                "code" : "LA25394-0",
                "display" : "Poor function"
              }
            ]
          },
          {
            "system" : "http://snomed.info/sct",
            "concept" : [
              {
                "code" : "444734003",
                "display" : "Does not meet eligibility criteria for clinical trial (finding)"
              },
              {
                "code" : "399223003",
                "display" : "Patient eligible for clinical trial (finding)"
              }
            ]
          }
        ]
      }
    }