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FHIR IG analytics

Packagede.medizininformatikinitiative.kerndatensatz.molgen
Resource TypeProcedure
IdProcedure-mii-exa-molgen-genomic-study-analysis-cornelia-de-lange.json
FHIR VersionR4

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Source1

{
  "resourceType": "Procedure",
  "id": "mii-exa-molgen-genomic-study-analysis-cornelia-de-lange",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis",
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2026.0.4"
    ]
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
      "valueReference": {
        "reference": "Specimen/mii-exa-molgen-specimen-2"
      }
    },
    {
      "extension": [
        {
          "url": "device",
          "valueReference": {
            "reference": "Device/mii-exa-molgen-device-sequencer-2"
          }
        }
      ],
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA26398-0",
            "display": "Sequencing"
          }
        ]
      }
    },
    {
      "extension": [
        {
          "url": "description",
          "valueString": "Cornelia de Lange Panel: Alle kodierenden Exons der Gene NIPBL, HDAC8, RAD21, SMC1A, SMC3, TP63"
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:28862",
                "display": "NIPBL"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:13315",
                "display": "HDAC8"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:9811",
                "display": "RAD21"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:11111",
                "display": "SMC1A"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:2468",
                "display": "SMC3"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:15979",
                "display": "TP63"
              }
            ]
          }
        }
      ],
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
    }
  ],
  "status": "completed",
  "category": {
    "coding": [
      {
        "system": "http://terminology.hl7.org/CodeSystem/observation-category",
        "code": "laboratory"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-molgen-patient-2"
  }
}