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Packagehl7.fhir.uv.ichom-breast-cancer
Resource TypeValueSet
IdValueSet-GermlineMutationVS.json
FHIR VersionR4

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Narrative

Note: links and images are rebased to the (stated) source

This value set includes codes based on the following rules:

  • Include these codes as defined in http://snomed.info/sct
    CodeDisplay
    445180002Breast cancer genetic marker of susceptibility not detected (finding)
    412734009BRCA1 gene mutation positive (finding)
    412738007BRCA2 gene mutation detected (finding)
    416237000Procedure not done (situation)
  • Include these codes as defined in http://terminology.hl7.org/CodeSystem/v3-NullFlavor
    CodeDisplayDefinition
    OTHother**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).

    **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.

    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.

Source1

{
  "resourceType": "ValueSet",
  "id": "GermlineMutationVS",
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "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"
          }
        ]
      }
    ]
  }
}