Observation-GenomicTherapeuticImplication-Example

Example of an Observation representing a Therapeutic Implication derived from Genomic Testing.

Observation
{
    "resourceType": "Observation",
    "id": "Observation-GenomicTherapeuticImplication-Example",
    "meta": {
        "profile":  [
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
        ]
    },
    "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/Oservation-GenomicsVariant-SLC52A2"
        }
    ],
    "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": "777436008",
                        "display": "Riboflavin"
                    }
                ]
            }
        }
    ],
    "note":  [
        {
            "text": "High dose riboflavin supplementation has been reported to ameliorate the progression of this disorder (Foley et al 2014 PMID22740598)"
        }
    ]
}
<Observation xmlns="http://hl7.org/fhir">
    <id value="Observation-GenomicTherapeuticImplication-Example" />
    <meta>
        <profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication" />
    </meta>
    <status value="final" />
    <category>
        <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category" />
            <code value="laboratory" />
        </coding>
    </category>
    <category>
        <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v2-0074" />
            <code value="GE" />
        </coding>
    </category>
    <code>
        <coding>
            <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" />
            <code value="therapeutic-implication" />
        </coding>
    </code>
    <subject>
        <reference value="Patient/Patient-PheobeSmitham-Example" />
    </subject>
    <effectiveDateTime value="2023-09-16" />
    <performer>
        <identifier>
            <system value="https://fhir.nhs.uk/Id/ods-organization-code" />
            <value value="R0A" />
        </identifier>
    </performer>
    <note>
        <text value="High dose riboflavin supplementation has been reported to ameliorate the progression of this disorder (Foley et al 2014 PMID22740598)" />
    </note>
    <derivedFrom>
        <reference value="Observation/Oservation-GenomicsVariant-SLC52A2" />
    </derivedFrom>
    <component>
        <code>
            <coding>
                <system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" />
                <code value="therapeutic-implication" />
                <display value="Therapeutic Implication" />
            </coding>
        </code>
        <valueCodeableConcept>
            <coding>
                <system value="http://loinc.org" />
                <code value="LA9661-5" />
                <display value="Presumed responsive" />
            </coding>
        </valueCodeableConcept>
    </component>
    <component>
        <code>
            <coding>
                <system value="http://loinc.org" />
                <code value="51963-7" />
                <display value="Medication assessed" />
            </coding>
        </code>
        <valueCodeableConcept>
            <coding>
                <system value="http://snomed.info/sct" />
                <code value="777436008" />
                <display value="Riboflavin" />
            </coding>
        </valueCodeableConcept>
    </component>
</Observation>