Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: obs-idh-ex - JSON Representation

Raw json | Download


{
  "resourceType" : "Observation",
  "id" : "obs-idh-ex",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-idh-ex</b></p><a name=\"obs-idh-ex\"> </a><a name=\"hcobs-idh-ex\"> </a><a name=\"hcobs-idh-ex-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Patient-HG00403.html\">Alanine B. Everyone  Unknown, DoB: 1951-01-20 ( Medical Record Number: m234\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>derivedFrom</b>: <a href=\"Observation-SNVexample.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://purl.obolibrary.org/obo/mondo.owl MONDO:0009061}\">Cystic fibrosis</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs condition-inheritance}\">Condition Inheritance</span></p><p><b>value</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0000007}\">Autosomal recessive inheritance</span></p></blockquote></div>"
  },
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      ]
    },
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "diagnostic-implication",
        "display" : "Diagnostic Implication"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/HG00403"
  },
  "effectiveDateTime" : "2023-06-01",
  "performer" : [
    {
      🔗 "reference" : "Organization/ExampleLab"
    }
  ],
  "derivedFrom" : [
    {
      🔗 "reference" : "Observation/SNVexample"
    }
  ],
  "component" : [
    {
      "extension" : [
        {
          "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component",
          "valueRelatedArtifact" : {
            "type" : "citation",
            "url" : "https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions"
          }
        }
      ],
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "53037-8",
            "display" : "Genetic variation clinical significance [Imp]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA6668-3",
            "display" : "Pathogenic"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "81259-4"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://purl.obolibrary.org/obo/mondo.owl",
            "code" : "MONDO:0009061",
            "display" : "cystic fibrosis"
          }
        ],
        "text" : "Cystic fibrosis"
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code" : "condition-inheritance"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://human-phenotype-ontology.org",
            "code" : "HP:0000007",
            "display" : "Autosomal recessive inheritance"
          }
        ]
      }
    }
  ]
}