FHIR IG analytics

Resources that use this resource

No resources found

Resources that this resource uses

No resources found

Narrative

No narrative content found in resource

Source1

{
  "resourceType": "Observation",
  "id": "mii-exa-molgen-variante-cnv-4",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2026.0.4",
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant|3.0.0"
    ]
  },
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory",
          "display": "Laboratory"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "69548-6",
        "display": "Genetic variant assessment"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-molgen-patient-2"
  },
  "effectiveDateTime": "2022-03-16",
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      }
    ]
  },
  "method": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA26398-0",
        "display": "Sequencing"
      }
    ],
    "text": "Analysepipeline XXX, Auswertungssoftware XXX, Prozessierungssystem XXX"
  },
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6",
            "display": "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org/geneId",
            "code": "HGNC:11119",
            "display": "SMO"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48019-4"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://sequenceontology.org",
            "code": "SO:0001742",
            "display": "copy_number_gain"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "82155-3"
          }
        ]
      },
      "valueQuantity": {
        "value": 6,
        "unit": "1",
        "system": "http://unitsofmeasure.org",
        "code": "1"
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "47999-8"
          }
        ]
      },
      "valueString": "Ex 1-10"
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48000-4"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA21260-7",
            "display": "Chromosome 7"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48001-2"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "urn:oid:2.16.840.1.113883.6.335",
            "code": "7q32.1"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81258-6"
          }
        ]
      },
      "valueQuantity": {
        "value": 55,
        "unit": "%",
        "system": "http://unitsofmeasure.org",
        "code": "%"
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "87706-8"
          }
        ]
      },
      "valueQuantity": {
        "value": 95,
        "comparator": ">",
        "unit": "%",
        "system": "http://unitsofmeasure.org",
        "code": "%"
      }
    }
  ]
}