Extension-quenceVariationType.json

Type of variation expressed using Sequence Ontology or LOINC codes.

{
  "resourceType": "ExtensionDefinition",
  "id": "ProfilegeneticsDNASequenceVariationType",
  "url": "http://hl7.org/fhir/ProfilegeneticsDNASequenceVariationType",
  "name": "Type of variation expressed using Sequence Ontology or LOINC codes.",
  "publisher": "Mollie Ullman-Cullere",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "mullmancullere@partners.org"
        }
      ]
    }
  ],
  "description": "Codified type for associated DNA Sequence Variation.  DNA Sequence Variations use the HGVS notation which implies the DNA Sequence Variation Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience. LOINC Answer List values 48019-4 or Sequence Ontology vaues.",
  "status": "draft",
  "date": "2014-12-07",
  "contextType": "resource",
  "context": [
    "Observation"
  ],
  "element": [
    {
      "path": "Extension",
      "short": "Type of variation expressed using Sequence Ontology or LOINC codes.",
      "definition": "Codified type for associated DNA Sequence Variation.  DNA Sequence Variations use the HGVS notation which implies the DNA Sequence Variation Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience. LOINC Answer List values 48019-4 or Sequence Ontology vaues.",
      "min": 0,
      "max": "1",
      "type": [
        {
          "code": "string"
        }
      ]
    }
  ]
}