{
  "resourceType": "StructureDefinition",
  "id": "overall-interpretation",
  "meta": {
    "lastUpdated": "2019-12-20T21:24:28.493+00:00"
  },
  "text": {
    "status": "generated",
    "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><table border=\"0\" cellpadding=\"0\" cellspacing=\"0\" style=\"border: 0px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;\"><tr style=\"border: 1px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;\"><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/formats.html#table\" title=\"The logical name of the element\">Name</a></th><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/formats.html#table\" title=\"Information about the use of the element\">Flags</a></th><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/formats.html#table\" title=\"Minimum and Maximum # of times the the element can appear in the instance\">Card.</a></th><th style=\"width: 100px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/formats.html#table\" title=\"Reference to the type of the element\">Type</a></th><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/formats.html#table\" title=\"Additional information about the element\">Description &amp; Constraints</a><span style=\"float: right\"><a href=\"http://hl7.org/fhir/formats.html#table\" title=\"Legend for this format\"><img src=\"http://hl7.org/fhir/help16.png\" alt=\"doco\" style=\"background-color: inherit\" /></a></span></th></tr><tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white;\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\" /><a href=\"{{[id]}}-definitions.html#Observation\" title=\"Provides a coarse overall interpretation of the genetic results reported.\">Observation</a><a name=\"Observation\"></a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\" /><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.4\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.4\">*</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\" /><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Overall Interpretation</td></tr><tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7;\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\" /><a href=\"{{[id]}}-definitions.html#Observation.code\" title=\"Interpretation of all identified DNA Markers and/or Individual Alleles along with any known clinical information for the benefit of aiding clinicians in understanding the results overall. This is used for Symptomatic or Asymptomatic testing other than Carrier testing.\">code</a><a name=\"Observation.code\"></a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\" /><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..1</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Discrete variation analysis overall interpretation<br /><span style=\"font-weight:bold\">Required Pattern: </span><span style=\"color: darkgreen\">At least the following</span></td></tr><tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white;\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck101.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"icon_fixed.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Fixed Value\" class=\"hierarchy\" /><a href=\"http://hl7.org/fhir/datatypes-definitions.html#CodeableConcept.coding\">coding</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\" /><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..*</td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/datatypes.html#Coding\">Coding</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Code defined by a terminology system<br /><span style=\"font-weight: bold\">Fixed Value: </span><span style=\"color: darkgreen\">(complex)</span></td></tr><tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7;\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1010.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"icon_fixed.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Fixed Value\" class=\"hierarchy\" /><a href=\"http://hl7.org/fhir/datatypes-definitions.html#Coding.system\">system</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\" /><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..1</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/datatypes.html#uri\">uri</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Identity of the terminology system<br /><span style=\"font-weight: bold\">Fixed Value: </span><a style=\"color: darkgreen\" href=\"http://hl7.org/fhir/loinc.html\">http://loinc.org</a></td></tr><tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white;\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1000.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_vline.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"icon_fixed.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Fixed Value\" class=\"hierarchy\" /><a href=\"http://hl7.org/fhir/datatypes-definitions.html#Coding.code\">code</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\" /><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..1</td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/datatypes.html#code\">code</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Symbol in syntax defined by the system<br /><span style=\"font-weight: bold\">Fixed Value: </span><span style=\"color: darkgreen\">51968-6</span></td></tr><tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7;\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\" /><a href=\"{{[id]}}-definitions.html#Observation.valueCodeableConcept\" title=\"Discrete variation analysis overall interpretation.\">valueCodeableConcept</a><a name=\"Observation.valueCodeableConcept\"></a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\" /><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..1</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Positive | Negative | Inconclusive | Failure<br /><span style=\"font-weight:bold\">Binding: </span><a href=\"https://r.details.loinc.org/AnswerList/LL541-4.html\">LOINC Answer List LL541-4</a> (<a href=\"http://hl7.org/fhir/terminologies.html#preferred\" title=\"Instances are encouraged to draw from the specified codes for interoperability purposes but are not required to do so to be considered conformant.\">preferred</a>)</td></tr><tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white;\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\" /><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\" /><a href=\"{{[id]}}-definitions.html#Observation.specimen\" title=\"The specimen examined to determine genetic information.\">specimen</a><a name=\"Observation.specimen\"></a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\" /><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.4\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.4\">1</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/references.html\">Reference</a>(<a style=\"opacity: 0.4\" href=\"http://hl7.org/fhir/specimen.html\">Specimen</a>)</td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Specimen examined</td></tr><tr><td colspan=\"5\" class=\"hierarchy\"><br /><a href=\"http://hl7.org/fhir/formats.html#table\" title=\"Legend for this format\"><img src=\"http://hl7.org/fhir/help16.png\" alt=\"doco\" style=\"background-color: inherit\" /> Documentation for this format</a></td></tr></table></div>"
  },
  "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/overall-interpretation",
  "version": "1.0.0",
  "name": "OverallInterpretation",
  "title": "Overall Interpretation",
  "status": "draft",
  "experimental": false,
  "date": "2017-05-20T00:00:00+00:00",
  "publisher": "HL7 Clinical Genomics WG",
  "description": "Observation-related profiles",
  "fhirVersion": "4.0.1",
  "mapping": [
    {
      "identity": "v2-cg-results",
      "uri": "http://unknown.org/V2-CG-Results",
      "name": "V2-CG-Results"
    },
    {
      "identity": "workflow",
      "uri": "http://hl7.org/fhir/workflow",
      "name": "Workflow Pattern"
    },
    {
      "identity": "sct-concept",
      "uri": "http://snomed.info/conceptdomain",
      "name": "SNOMED CT Concept Domain Binding"
    },
    {
      "identity": "v2",
      "uri": "http://hl7.org/v2",
      "name": "HL7 v2 Mapping"
    },
    {
      "identity": "rim",
      "uri": "http://hl7.org/v3",
      "name": "RIM Mapping"
    },
    {
      "identity": "w5",
      "uri": "http://hl7.org/fhir/fivews",
      "name": "FiveWs Pattern Mapping"
    },
    {
      "identity": "sct-attr",
      "uri": "http://snomed.org/attributebinding",
      "name": "SNOMED CT Attribute Binding"
    }
  ],
  "kind": "resource",
  "abstract": false,
  "type": "Observation",
  "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-base",
  "derivation": "constraint",
  "snapshot": {},
  "differential": {
    "element": [
      {
        "id": "Observation",
        "path": "Observation",
        "short": "Overall Interpretation",
        "definition": "Provides a coarse overall interpretation of the genetic results reported.",
        "comment": "Reported when mutation analysis (sequencing or targeted mutations) is done. Equivalent SCT codes are or will be available for LA codes in this guide. More detailed interpretations are also associated with each distinct reported variant.",
        "mustSupport": false
      },
      {
        "id": "Observation.code",
        "path": "Observation.code",
        "short": "Discrete variation analysis overall interpretation",
        "definition": "Interpretation of all identified DNA Markers and/or Individual Alleles along with any known clinical information for the benefit of aiding clinicians in understanding the results overall. This is used for Symptomatic or Asymptomatic testing other than Carrier testing.",
        "min": 1,
        "max": "1",
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "patternCodeableConcept": {
          "coding": [
            {
              "system": "http://loinc.org",
              "code": "51968-6"
            }
          ]
        },
        "mustSupport": false
      },
      {
        "id": "Observation.valueCodeableConcept",
        "path": "Observation.valueCodeableConcept",
        "short": "Positive | Negative | Inconclusive | Failure",
        "definition": "Discrete variation analysis overall interpretation.",
        "min": 1,
        "max": "1",
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": false,
        "binding": {
          "strength": "preferred",
          "description": "Overall genetic assessment values",
          "valueSet": "http://loinc.org/vs/LL541-4"
        },
        "mapping": [
          {
            "identity": "v2-cg-results",
            "map": "A.8"
          }
        ]
      },
      {
        "id": "Observation.specimen",
        "path": "Observation.specimen",
        "short": "Specimen examined",
        "definition": "The specimen examined to determine genetic information.",
        "mustSupport": false
      }
    ]
  }
}