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FHIR IG analytics

Packagede.medizininformatikinitiative.kerndatensatz.mtb
Resource TypeObservation
IdObservation-MII-EXA-MTB-RNA-Fusion-1.json
FHIR VersionR4

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Narrative

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


English


Generated Narrative: Observation MII-EXA-MTB-RNA-Fusion-1

Profile: MII PR MTB RNA Fusion version: 2027.0.0-ballot.1

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Maxim Muster (no stated gender), DoB Unknown

value: Present

component

code: Five Prime Gene

value: EML4

component

code: Five Prime Transcript ID

value: NM_019063.4

component

code: Five Prime Exon ID

value: Exon 13

component

code: Five Prime Position

value: 42396490-42396490

component

code: Five Prime Strand

value: Watson_strand

component

code: Three Prime Gene

value: ALK

component

code: Three Prime Transcript ID

value: NM_004304.5

component

code: Three Prime Exon ID

value: Exon 20

component

code: Three Prime Position

value: 29446394-29446394

component

code: Three Prime Strand

value: Watson_strand

component

code: Discrete genetic variant

value: EML4-ALK fusion

component

code: Allelic read depth

value: 250 reads (Details: UCUM code1 = '1')


German


Generated Narrative: Observation MII-EXA-MTB-RNA-Fusion-1

Profile: MII PR MTB RNA Fusion version: 2027.0.0-ballot.1

status: Final

category: Laboratory, Genetik

code: Genetic variant assessment

subject: Maxim Muster (no stated gender), DoB Unknown

value: Present

component

code: Five Prime Gene

value: EML4

component

code: Five Prime Transcript ID

value: NM_019063.4

component

code: Five Prime Exon ID

value: Exon 13

component

code: Five Prime Position

value: 42396490-42396490

component

code: Five Prime Strand

value: Watson_strand

component

code: Three Prime Gene

value: ALK

component

code: Three Prime Transcript ID

value: NM_004304.5

component

code: Three Prime Exon ID

value: Exon 20

component

code: Three Prime Position

value: 29446394-29446394

component

code: Three Prime Strand

value: Watson_strand

component

code: Discrete genetic variant

value: EML4-ALK fusion

component

code: Allelic read depth

value: 250 reads (Details: UCUM code1 = '1')


Source1

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  "resourceType": "Observation",
  "id": "MII-EXA-MTB-RNA-Fusion-1",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-rna-fusion|2027.0.0-ballot.1"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory",
          "display": "Laboratory"
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          "code": "GE"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "69548-6",
        "display": "Genetic variant assessment"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-mtb-patient"
  },
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      }
    ]
  },
  "component": [
    {
      "code": {
        "coding": [
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          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org/geneId",
            "code": "HGNC:1316",
            "display": "EML4"
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        ]
      }
    },
    {
      "code": {
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        ]
      },
      "valueCodeableConcept": {
        "coding": [
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            "system": "https://www.ncbi.nlm.nih.gov/refseq/",
            "code": "NM_019063.4"
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    },
    {
      "code": {
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            "code": "five-prime-exon-id"
          }
        ]
      },
      "valueCodeableConcept": {
        "text": "Exon 13"
      }
    },
    {
      "code": {
        "coding": [
          {
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        ]
      },
      "valueRange": {
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        ]
      },
      "valueCodeableConcept": {
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            "code": "SO:0002262",
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    },
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          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
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            "code": "HGNC:427",
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    },
    {
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          }
        ]
      },
      "valueCodeableConcept": {
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            "code": "three-prime-exon-id"
          }
        ]
      },
      "valueCodeableConcept": {
        "text": "Exon 20"
      }
    },
    {
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            "code": "81252-9"
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      "valueCodeableConcept": {
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    },
    {
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}