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

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Source1

{
  "resourceType": "Observation",
  "id": "Observation-GenomicTherapeuticImplication-Example",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication",
      "http://hl7.eu/fhir/laboratory/StructureDefinition/Observation-resultslab-eu-lab"
    ]
  },
  "status": "final",
  "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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code": "therapeutic-implication"
      }
    ]
  },
  "subject": {
    "reference": "Patient/Patient-PheobeSmitham-Example"
  },
  "effectiveDateTime": "2023-09-16",
  "performer": [
    {
      "identifier": {
        "system": "https://fhir.nhs.uk/Id/ods-organization-code",
        "value": "R0A"
      }
    }
  ],
  "derivedFrom": [
    {
      "reference": "Observation/Observation-GenomicsVariantSLC52A2-Example"
    }
  ],
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code": "therapeutic-implication",
            "display": "Therapeutic Implication"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA9661-5",
            "display": "Presumed responsive"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "51963-7",
            "display": "Medication assessed"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://snomed.info/sct",
            "code": "438481000124108",
            "display": "Riboflavin supplement"
          }
        ]
      }
    }
  ],
  "note": [
    {
      "text": "High dose riboflavin supplementation has been reported to ameliorate the progression of this disorder (Foley et al 2014 PMID22740598)"
    }
  ]
}