FHIR IG analytics

Resources that use this resource

No resources found

Resources that this resource uses

No resources found

Narrative

Note: links and images are rebased to the (stated) source

Source1

{
  "resourceType": "Procedure",
  "id": "mii-exa-molgen-genomic-study-analysis-trurisk-panel",
  "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|2027.0.0-ballot.1"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
      "valueReference": {
        "reference": "Specimen/mii-exa-molgen-specimen-brca1"
      }
    },
    {
      "extension": [
        {
          "url": "device",
          "valueReference": {
            "reference": "Device/mii-exa-molgen-device-sequencer-nextseq"
          }
        }
      ],
      "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": "TruRisk Panel v3: Alle kodierenden Exons der Core-Gene für erblichen Brust- und Eierstockkrebs"
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:795",
                "display": "ATM"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:1100",
                "display": "BRCA1"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:952",
                "display": "BARD1"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:1101",
                "display": "BRCA2"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:20473",
                "display": "BRIP1"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:1748",
                "display": "CDH1"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:16627",
                "display": "CHEK2"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:7127",
                "display": "MLH1"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:7325",
                "display": "MSH2"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:7329",
                "display": "MSH6"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:26144",
                "display": "PALB2"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:9122",
                "display": "PMS2"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:9588",
                "display": "PTEN"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:9820",
                "display": "RAD51C"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:9823",
                "display": "RAD51D"
              }
            ]
          }
        },
        {
          "url": "studied",
          "valueCodeableConcept": {
            "coding": [
              {
                "system": "http://www.genenames.org/geneId",
                "code": "HGNC:11998",
                "display": "TP53"
              }
            ]
          }
        }
      ],
      "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-brca1"
  }
}