ICHOM Patient Centered Outcomes Measure Set for Breast Cancer
1.0.0 - trial-use International flag

ICHOM Patient Centered Outcomes Measure Set for Breast Cancer, published by HL7 International - Clinical Interoperability Council Group. This is not an authorized publication; it is the continuous build for version 1.0.0). This version is based on the current content of https://github.com/HL7/fhir-ichom-breast-cancer-ig/ and changes regularly. See the Directory of published versions

: Germline Mutation ValueSet - JSON Representation

Page standards status: Trial-use Maturity Level: 2

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{
  "resourceType" : "ValueSet",
  "id" : "GermlineMutationVS",
  "text" : {
    "status" : "extensions",
    "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://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/445180002\">445180002</a></td><td>Breast cancer genetic marker of susceptibility not detected (finding)</td></tr><tr><td><a href=\"http://snomed.info/id/412734009\">412734009</a></td><td>BRCA1 gene mutation positive (finding)</td></tr><tr><td><a href=\"http://snomed.info/id/412738007\">412738007</a></td><td>BRCA2 gene mutation detected (finding)</td></tr><tr><td><a href=\"http://snomed.info/id/416237000\">416237000</a></td><td>Procedure not done (situation)</td></tr></table></li><li>Include these codes as defined in <a href=\"http://terminology.hl7.org/5.0.0/CodeSystem-v3-NullFlavor.html\"><code>http://terminology.hl7.org/CodeSystem/v3-NullFlavor</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a href=\"http://terminology.hl7.org/5.0.0/CodeSystem-v3-NullFlavor.html#v3-NullFlavor-OTH\">OTH</a></td><td>other</td><td>**Description:**The actual value is not a member of the set of permitted data values in the constrained value domain of a variable. (e.g., concept not provided by required code system).<br/><br/>**Usage Notes**: This flavor and its specializations are most commonly used with the CD datatype and its flavors. However, it may apply to \\*any\\* datatype where the constraints of the type are tighter than can be conveyed. For example, a PQ that is for a true measured amount whose units are not supported in UCUM, a need to convey a REAL when the type has been constrained to INT, etc.<br/><br/>With coded datatypes, this null flavor may only be used if the vocabulary binding has a coding strength of CNE. By definition, all local codes and original text are part of the value set if the coding strength is CWE.</td></tr></table></li></ul></div>"
  },
  "extension" : [
    {
      "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/ichom-breast-cancer/ImplementationGuide/hl7.fhir.uv.ichom-breast-cancer"
          }
        ]
      }
    },
    {
      "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/ichom-breast-cancer/ImplementationGuide/hl7.fhir.uv.ichom-breast-cancer"
          }
        ]
      }
    }
  ],
  "url" : "http://hl7.org/fhir/uv/ichom-breast-cancer/ValueSet/GermlineMutationVS",
  "version" : "1.0.0",
  "name" : "GermlineMutationVS",
  "title" : "Germline Mutation ValueSet",
  "status" : "active",
  "experimental" : false,
  "date" : "2023-08-21T16:37:24+00:00",
  "publisher" : "HL7 International - Clinical Interoperability Council Group",
  "contact" : [
    {
      "name" : "HL7 International - Clinical Interoperability Council Group",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/cic"
        }
      ]
    }
  ],
  "description" : "Valueset of the genetic mutation predisposing breast cancer",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "copyright" : "This 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://snomed.info/sct",
        "concept" : [
          {
            "code" : "445180002",
            "display" : "Breast cancer genetic marker of susceptibility not detected (finding)"
          },
          {
            "code" : "412734009",
            "display" : "BRCA1 gene mutation positive (finding)"
          },
          {
            "code" : "412738007",
            "display" : "BRCA2 gene mutation detected (finding)"
          },
          {
            "code" : "416237000",
            "display" : "Procedure not done (situation)"
          }
        ]
      },
      {
        "system" : "http://terminology.hl7.org/CodeSystem/v3-NullFlavor",
        "concept" : [
          {
            "code" : "OTH",
            "display" : "other"
          }
        ]
      }
    ]
  }
}