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Packageuk.nhsengland.genomics.r4
Resource TypeObservation
IdObservation-GenomicsVariantSLC52A2-Example.json
FHIR VersionR4

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Source1

{
  "resourceType": "Observation",
  "id": "Observation-GenomicsVariantSLC52A2-Example",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant",
      "http://hl7.eu/fhir/laboratory/StructureDefinition/Observation-resultslab-eu-lab"
    ]
  },
  "status": "final",
  "basedOn": [
    {
      "reference": "ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
    }
  ],
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "69548-6"
      },
      {
        "system": "http://snomed.info/sct",
        "code": "414755005",
        "display": "Molecular, genetic AND/OR cellular observable"
      }
    ]
  },
  "subject": {
    "reference": "Patient/Patient-PheobeSmitham-Example"
  },
  "effectiveDateTime": "2023-09-16",
  "performer": [
    {
      "identifier": {
        "system": "https://fhir.nhs.uk/Id/ods-organization-code",
        "value": "R0A"
      }
    }
  ],
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      },
      {
        "system": "http://snomed.info/sct",
        "code": "52101004",
        "display": "Present"
      }
    ]
  },
  "method": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA26398-0",
        "display": "Sequencing"
      },
      {
        "system": "http://snomed.info/sct",
        "code": "117040002",
        "display": "Nucleic acid sequencing"
      }
    ]
  },
  "specimen": {
    "reference": "Specimen/Specimen-PheobeSmitham-Example"
  },
  "component": [
    {
      "code": {
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          {
            "system": "http://loinc.org",
            "code": "48004-6"
          }
        ]
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      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://varnomen.hgvs.org",
            "code": "NM_024531.4:c.9163>A p.(Gly306Arg)"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "81290-9"
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      "valueCodeableConcept": {
        "coding": [
          {
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            "code": "Chr8:g.1455840683>A"
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      "code": {
        "coding": [
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            "code": "81252-9"
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        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.sequenceontology.org",
            "code": "SO:0001583",
            "display": "missense_variant"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org/",
            "code": "HGNC:30224",
            "display": "SLC52A2"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "53034-5"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6705-3",
            "display": "homozygous"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
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            "code": "94186-4"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
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            "code": "LA4489-6",
            "display": "Unknown"
          }
        ]
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    },
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            "system": "http://loinc.org",
            "code": "48002-0"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6683-2",
            "display": "Germline"
          }
        ]
      }
    }
  ],
  "partOf": [
    {
      "reference": "Procedure/Procedure-GenomicStudy-Example"
    }
  ]
}