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 Gen - Homozygote Deletion

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{
  "resourceType" : "Observation",
  "id" : "mii-exa-seltene-variant-smn1-001",
  "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-variant-smn1-001</b></p><a name=\"de-mii-exa-seltene-variant-smn1-001\"> </a><a name=\"de-hcmii-exa-seltene-variant-smn1-001\"> </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 55233-1}\">Genetic analysis master panel</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-seltene-patient-sma-001.html\">Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)</a></p><p><b>effective</b>: 2024-07-26</p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 10828004}\">Positive</span></p><p><b>interpretation</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation POS}\">Positive</span></p><p><b>note</b>: </p><blockquote><div><p>Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA</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:{http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes:\">GRCh38</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6705-3}\">Homozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:\">Copy Number</span></p><p><b>value</b>: 0 copies</p></blockquote></div>"
  },
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "55233-1",
        "display" : "Genetic analysis master panel"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
  },
  "effectiveDateTime" : "2024-07-26",
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "http://snomed.info/sct",
        "code" : "10828004",
        "display" : "Positive"
      }
    ]
  },
  "interpretation" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
          "code" : "POS",
          "display" : "Positive"
        }
      ]
    }
  ],
  "note" : [
    {
      "text" : "Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA"
    }
  ],
  "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" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "62374-4",
            "display" : "Human reference sequence assembly version"
          }
        ]
      },
      "valueCodeableConcept" : {
        "text" : "GRCh38"
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "53034-5",
            "display" : "Allelic state"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA6705-3",
            "display" : "Homozygous"
          }
        ]
      }
    },
    {
      "code" : {
        "text" : "Copy Number"
      },
      "valueQuantity" : {
        "value" : 0,
        "unit" : "copies"
      }
    }
  ]
}