MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: SMN1 - Normale Kopienanzahl

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{
  "resourceType" : "Observation",
  "id" : "mii-exa-seltene-molgen-smn1-normal-copies",
  "language" : "de",
  "text" : {
    "status" : "generated",
    "div" : "<div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-seltene-molgen-smn1-normal-copies</b></p><a name=\"de-mii-exa-seltene-molgen-smn1-normal-copies\"> </a><a name=\"de-hcmii-exa-seltene-molgen-smn1-normal-copies\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-seltene-patient.html\">Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)</a></p><p><b>effective</b>: 2024-07-26</p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 280413001}\">Normal result</span></p><p><b>interpretation</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation N}\">Normal</span></p><p><b>note</b>: </p><blockquote><div><p>Normale Kopienanzahl des SMN1-Gens. SMA ausgeschlossen.</p>\n</div></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:11117}\">SMN1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:\">Copy Number</span></p><p><b>value</b>: 2</p></blockquote></div>"
  },
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "69548-6",
        "display" : "Genetic variant assessment"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-seltene-patient"
  },
  "effectiveDateTime" : "2024-07-26",
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "http://snomed.info/sct",
        "code" : "280413001",
        "display" : "Normal result"
      }
    ]
  },
  "interpretation" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
          "code" : "N",
          "display" : "Normal"
        }
      ]
    }
  ],
  "note" : [
    {
      "text" : "Normale Kopienanzahl des SMN1-Gens. SMA ausgeschlossen."
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6",
            "display" : "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org/geneId",
            "code" : "HGNC:11117",
            "display" : "SMN1"
          }
        ]
      }
    },
    {
      "code" : {
        "text" : "Copy Number"
      },
      "valueInteger" : 2
    }
  ]
}