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Packagede.medizininformatikinitiative.kerndatensatz.molgen
Resource TypeDiagnosticReport
IdDiagnosticReport-mii-exa-molgen-befundbericht-1.json
FHIR VersionR4

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Narrative

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


English


Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-1

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

Genetic analysis report (Genetics)

SubjectMaja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))
Performer Practitioner Dr. Daniel Schmidt(official)

Report Details

CodeValueFlagsRelevant Time
Diagnostic ImplicationFinal2022-04-07
Therapeutic ImplicationFinal2022-04-07
Genetic variant assessmentPresentFinal2022-04-07
Genotype display nameBRAF rs113488022 T>AFinal2022-04-07
Mutations/Megabase [# Ratio] in Tumor12 Mutations/Megabase (Details: UCUM code1/1000000{Base} = '1/1000000{Base}')Final
Microsatellite instability [Interpretation] in Cancer specimen QualitativeStableFinal

BRAF p.V600E Mutation liegt vor. Bitte Therapieoption mit einem BRAF-Inhibitor prüfen.


German


Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-1

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

Genetic analysis report (Genetics)

SubjectMaja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Krankenaktennummer (use: usual, ))
Performer Practitioner Dr. Daniel Schmidt(official)

Report Details

CodeValueFlagsRelevant Time
Diagnostic ImplicationFinal2022-04-07
Therapeutic ImplicationFinal2022-04-07
Genetic variant assessmentPresentFinal2022-04-07
Genotype display nameBRAF rs113488022 T>AFinal2022-04-07
Mutations/Megabase [# Ratio] in Tumor12 Mutations/Megabase (Details: UCUM code1/1000000{Base} = '1/1000000{Base}')Final
Microsatellite instability [Interpretation] in Cancer specimen QualitativeStableFinal

BRAF p.V600E Mutation liegt vor. Bitte Therapieoption mit einem BRAF-Inhibitor prüfen.


Source1

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      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report|3.0.0"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
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      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference",
      "valueReference": {
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      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
      "valueReference": {
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      "valueReference": {
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    },
    {
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        "reference": "FamilyMemberHistory/mii-exa-molgen-family-member-history-1"
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  "status": "final",
  "category": [
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          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE",
          "display": "Genetics"
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  "code": {
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      }
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  "subject": {
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  "performer": [
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  "result": [
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    },
    {
      "reference": "Observation/mii-exa-molgen-variante-1"
    },
    {
      "reference": "Observation/mii-exa-molgen-genotyp-1"
    },
    {
      "reference": "Observation/mii-exa-molgen-mutationslast-1"
    },
    {
      "reference": "Observation/mii-exa-molgen-mikrosatelliteninstabilitaet-1"
    }
  ],
  "conclusion": "BRAF p.V600E Mutation liegt vor. Bitte Therapieoption mit einem BRAF-Inhibitor prüfen."
}