Extension-genetics-relationObservation.json

Genetic markers, ethnicity, etc.

{
  "resourceType": "ExtensionDefinition",
  "id": "genetics-relationObservation",
  "url": "http://hl7.org/fhir/ExtensionDefinition/genetics-relationObservation",
  "name": "Genetic markers, ethnicity, etc.",
  "publisher": "HL7 International - Clinical Genomics WG",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "http://www.hl7.org/Special/committees/clingenomics"
        }
      ]
    }
  ],
  "description": "Allows capturing risk-relevant observations about the relative that aren't themselves a specific health condition.  E.g. Certain ethnic ancestries that are disease-relevant, presence of particular genetic markers, etc.",
  "status": "draft",
  "date": "2013-10-02",
  "mapping": [
    {
      "identity": "rim",
      "uri": "http://hl7.org/v3",
      "name": "RIM"
    }
  ],
  "contextType": "resource",
  "context": [
    "FamilyHistory.relation"
  ],
  "element": [
    {
      "path": "Extension",
      "short": "Genetic markers, ethnicity, etc.",
      "definition": "Allows capturing risk-relevant observations about the relative that aren't themselves a specific health condition.  E.g. Certain ethnic ancestries that are disease-relevant, presence of particular genetic markers, etc.",
      "comments": "This may be extended with additional genomics-specific resources when they are ready.",
      "min": 0,
      "max": "*",
      "type": [
        {
          "code": "Reference",
          "profile": "http://hl7.org/fhir/Profile/Observation"
        }
      ],
      "mapping": [
        {
          "identity": "rim",
          "map": "inboundRelationship[typeCode=SUBJ].source"
        }
      ]
    }
  ]
}