Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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

Active as of 2024-04-09

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{
  "resourceType" : "ValueSet",
  "id" : "genetic-therapeutic-implications-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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><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><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/uv/genomics-reporting/ValueSet/genetic-therapeutic-implications-vs",
  "version" : "3.0.1-SNAPSHOT",
  "name" : "GeneticTherapeuticImplicationsVS",
  "title" : "Genetic Therapeutic Implications",
  "status" : "active",
  "experimental" : false,
  "date" : "2024-04-09T13:57:55+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)"
          }
        ]
      }
    ]
  }
}