This page is part of the FHIR Core Extensions Registry (v5.1.0-snapshot1: Release 5.1) based on FHIR (HL7® FHIR® Standard) v5.0.0. The current version which supersedes this version is 1.0.0. For a full list of available versions, see the Directory of published versions
Page standards status: Trial-use | Maturity Level: 3 |
{
"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-snapshot1",
"name" : "GeneticObservationSecondaryFindings",
"title" : "Genetic Observation Secondary Findings Code System",
"status" : "active",
"experimental" : false,
"date" : "2024-03-12T13:30:10+11:00",
"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"
}
]
}