{
  "resourceType": "StructureDefinition",
  "id": "observation-geneticsGene",
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode": "oo"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger": 1
    }
  ],
  "url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene",
  "name": "Gene",
  "status": "draft",
  "date": "2016-03-14",
  "publisher": "Health Level Seven International (Clinical Genomics)",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        }
      ]
    }
  ],
  "description": "A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions ([SO:0000704](http://www.sequenceontology.org/browser/current_svn/term/SO:0000704)). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name ([HGNC](http://www.genenames.org)). LOINC Code: ([48018-6](http://loinc.org/48018-6)).",
  "fhirVersion": "3.0.1",
  "mapping": [
    {
      "identity": "rim",
      "uri": "http://hl7.org/v3",
      "name": "RIM Mapping"
    }
  ],
  "kind": "complex-type",
  "abstract": false,
  "contextType": "resource",
  "context": [
    "Observation"
  ],
  "type": "Extension",
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
  "derivation": "constraint",
  "differential": {
    "element": [
      {
        "id": "Extension",
        "path": "Extension",
        "short": "HGNC gene symbol",
        "definition": "A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions ([SO:0000704](http://www.sequenceontology.org/browser/current_svn/term/SO:0000704)). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name ([HGNC](http://www.genenames.org)). LOINC Code: ([48018-6](http://loinc.org/48018-6)).",
        "comment": "Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by using a local extension.",
        "min": 0,
        "max": "1"
      },
      {
        "id": "Extension.extension",
        "path": "Extension.extension",
        "max": "0"
      },
      {
        "id": "Extension.url",
        "path": "Extension.url",
        "type": [
          {
            "code": "uri"
          }
        ],
        "fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"
      },
      {
        "id": "Extension.valueCodeableConcept",
        "path": "Extension.valueCodeableConcept",
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "binding": {
          "extension": [
            {
              "url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
              "valueString": "HGNC-geneIdentifiers"
            }
          ],
          "strength": "preferred",
          "description": "International curated set of gene identifiers",
          "valueSetUri": "http://www.genenames.org"
        }
      }
    ]
  }
}