FHIR Extensions Pack
5.1.0 - 5.1.0 (April 2024) International flag

This page is part of the FHIR Core Extensions Registry (v5.1.0: Release 5.1) based on FHIR (HL7® FHIR® Standard) v5.0.0. This is the current published version. For a full list of available versions, see the Directory of published versions

: Genetic Observation Secondary Findings Code System - JSON Representation

Page standards status: Trial-use Maturity Level: 3

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{
  "resourceType" : "CodeSystem",
  "id" : "secondary-finding",
  "meta" : {
    "lastUpdated" : "2023-01-31T07:07:38.434+11:00",
    "profile" : [
      🔗 "http://hl7.org/fhir/StructureDefinition/shareablecodesystem"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p>This case-sensitive code system <code>http://hl7.org/fhir/secondary-finding</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\">acmg-version1<a name=\"secondary-finding-acmg-version1\"> </a></td><td>ACMG Version 1</td><td>First release (2013): ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing.  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727274/</td></tr><tr><td style=\"white-space:nowrap\">acmg-version2<a name=\"secondary-finding-acmg-version2\"> </a></td><td>ACMG Version 2</td><td>Second release (2016): Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. https://www.ncbi.nlm.nih.gov/pubmed/27854360</td></tr></table></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "oo"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode" : "trial-use"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger" : 3
    }
  ],
  "url" : "http://hl7.org/fhir/secondary-finding",
  "identifier" : [
    {
      "system" : "urn:ietf:rfc:3986",
      "value" : "urn:oid:2.16.840.1.113883.4.642.4.1286"
    }
  ],
  "version" : "5.1.0",
  "name" : "GeneticObservationSecondaryFindings",
  "title" : "Genetic Observation Secondary Findings Code System",
  "status" : "active",
  "experimental" : false,
  "date" : "2024-04-27T18:54:50+10:00",
  "publisher" : "HL7 International / Orders and Observations",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/orders"
        }
      ]
    }
  ],
  "description" : "Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001"
        }
      ]
    }
  ],
  "caseSensitive" : true,
  "valueSet" : "http://hl7.org/fhir/ValueSet/secondary-finding",
  "content" : "complete",
  "concept" : [
    {
      "code" : "acmg-version1",
      "display" : "ACMG Version 1",
      "definition" : "First release (2013): ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing.  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727274/"
    },
    {
      "code" : "acmg-version2",
      "display" : "ACMG Version 2",
      "definition" : "Second release (2016): Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. https://www.ncbi.nlm.nih.gov/pubmed/27854360"
    }
  ]
}