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Packagede.medizininformatikinitiative.kerndatensatz.molgen
Resource TypeDiagnosticReport
IdDiagnosticReport-mii-exa-molgen-befundbericht-srcc.json
FHIR VersionR4

Resources that use this resource

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Resources that this resource uses

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Narrative

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


English


Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-srcc

Profiles: MII PR MolGen Molekulargenetischer Befundbericht version: 2027.0.0-ballot.1, Genomic Report version: 3.0.0

Genetic analysis report (Genetics)

SubjectAnonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))
Performer Practitioner Dr. Daniel Schmidt(official)

Report Details

CodeValueFlagsRelevant Time
Diagnostic ImplicationFinal2022-11-30
Genetic variant assessmentPresentFinal2022-11-30

Nachweis der pathogenen Variante im CTNNA1-Gen.


German


Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-srcc

Profiles: MII PR MolGen Molekulargenetischer Befundbericht version: 2027.0.0-ballot.1, Genomic Report version: 3.0.0

Genetic analysis report (Genetics)

SubjectAnonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))
Performer Practitioner Dr. Daniel Schmidt(official)

Report Details

CodeValueFlagsRelevant Time
Diagnostic ImplicationFinal2022-11-30
Genetic variant assessmentPresentFinal2022-11-30

Nachweis der pathogenen Variante im CTNNA1-Gen.


Source1

{
  "resourceType": "DiagnosticReport",
  "id": "mii-exa-molgen-befundbericht-srcc",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht|2027.0.0-ballot.1",
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report|3.0.0"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo",
      "valueReference": {
        "reference": "FamilyMemberHistory/mii-exa-molgen-family-member-history-srcc"
      }
    }
  ],
  "basedOn": [
    {
      "reference": "ServiceRequest/mii-exa-molgen-anforderung-srcc"
    }
  ],
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE",
          "display": "Genetics"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "51969-4",
        "display": "Genetic analysis report"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-molgen-patient-srcc"
  },
  "performer": [
    {
      "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
    }
  ],
  "specimen": [
    {
      "reference": "Specimen/mii-exa-molgen-specimen-srcc"
    },
    {
      "reference": "Specimen/mii-exa-molgen-specimen-srcc-2"
    }
  ],
  "result": [
    {
      "reference": "Observation/mii-exa-molgen-diagnostische-implikation-srcc-ctnna1"
    },
    {
      "reference": "Observation/mii-exa-molgen-variante-srcc-ctnna1"
    }
  ],
  "conclusion": "Nachweis der pathogenen Variante im CTNNA1-Gen."
}