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FHIR IG analytics

Packagede.medizininformatikinitiative.kerndatensatz.seltene
Resource TypeDiagnosticReport
IdDiagnosticReport-mii-exa-seltene-molgen-sma-negative.json
FHIR VersionR4

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Narrative

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


English


Generated Narrative: DiagnosticReport mii-exa-seltene-molgen-sma-negative

Genetic analysis report (Laboratory)

SubjectMax Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)
Relevant Time2024-07-26

Report Details

CodeValueFlagsNote
Genetic variant assessmentNormal resultFinal, Normal

Normale Kopienanzahl des SMN1-Gens. SMA ausgeschlossen.

SMN1-Gen: 2 Kopien (Normalbefund). SMN2-Gen: 2 Kopien. Spinale Muskelatrophie ausgeschlossen.

Coded Conclusions:

  • Normal result

German


Generated Narrative: DiagnosticReport mii-exa-seltene-molgen-sma-negative

Genetic analysis report (Laboratory)

SubjectMax Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)
Relevant Time2024-07-26

Report Details

CodeValueFlagsNote
Genetic variant assessmentNormal resultFinal, Normal

Normale Kopienanzahl des SMN1-Gens. SMA ausgeschlossen.

SMN1-Gen: 2 Kopien (Normalbefund). SMN2-Gen: 2 Kopien. Spinale Muskelatrophie ausgeschlossen.

Coded Conclusions:

  • Normal result

Source1

{
  "resourceType": "DiagnosticReport",
  "id": "mii-exa-seltene-molgen-sma-negative",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "LAB",
          "display": "Laboratory"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "51969-4",
        "display": "Genetic analysis report"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-seltene-patient"
  },
  "effectiveDateTime": "2024-07-26",
  "result": [
    {
      "reference": "Observation/mii-exa-seltene-molgen-smn1-normal-copies"
    }
  ],
  "conclusion": "SMN1-Gen: 2 Kopien (Normalbefund). SMN2-Gen: 2 Kopien. Spinale Muskelatrophie ausgeschlossen.",
  "conclusionCode": [
    {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "280413001",
          "display": "Normal result"
        }
      ]
    }
  ]
}