FHIR IG analytics

Resources that use this resource

No resources found

Resources that this resource uses

No resources found

Narrative

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

Source1

{
  "resourceType": "Observation",
  "id": "mii-exa-molgen-variante-1",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2027.0.0-ballot.1",
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant|3.0.0"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "basedOn": [
    {
      "reference": "ServiceRequest/mii-exa-molgen-anforderung-1"
    }
  ],
  "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"
  },
  "effectiveDateTime": "2022-04-07",
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      }
    ]
  },
  "method": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA26398-0",
        "display": "Sequencing"
      }
    ]
  },
  "specimen": {
    "reference": "Specimen/mii-exa-molgen-specimen-1"
  },
  "device": {
    "reference": "Device/mii-exa-molgen-device-sequencer"
  },
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6",
            "display": "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org/geneId",
            "code": "HGNC:1097",
            "display": "BRAF"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48013-7",
            "display": "Genomic reference sequence [ID]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.ncbi.nlm.nih.gov/refseq",
            "code": "NM_004333.4"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "47999-8",
            "display": "DNA region name [Identifier]"
          }
        ]
      },
      "valueString": "Exon #15"
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "47999-8",
            "display": "DNA region name [Identifier]"
          }
        ]
      },
      "valueString": "Codon #582 - #612"
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48004-6",
            "display": "DNA change (c.HGVS)"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://varnomen.hgvs.org",
            "code": "NM_004333.4:c.1799T>A"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48005-3",
            "display": "Amino acid change (pHGVS)"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://varnomen.hgvs.org",
            "code": "p.(Val600Glu)"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81258-6",
            "display": "Sample variant allelic frequency [NFr]"
          }
        ]
      },
      "valueQuantity": {
        "value": 30.25,
        "system": "http://unitsofmeasure.org",
        "code": "%"
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48001-2",
            "display": "Cytogenetic (chromosome) location"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "urn:oid:2.16.840.1.113883.6.335",
            "code": "7q34"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48019-4",
            "display": "DNA change type"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://sequenceontology.org",
            "code": "SO:1000008",
            "display": "point_mutation"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81252-9",
            "display": "Discrete genetic variant"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.ncbi.nlm.nih.gov/projects/SNP",
            "code": "rs113488022"
          }
        ]
      }
    }
  ]
}