Observation-DiseasePenetrance-Example

Example of an Observation indicating the degree of disease penetrance on the subject.

Observation
{
    "resourceType": "Observation",
    "id": "Observation-DiseasePenetrance-Example",
    "status": "final",
    "code": {
        "coding":  [
            {
                "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                "code": "R14",
                "display": "Acutely unwell children with a likely monogenic disorder",
                "version": "7"
            }
        ]
    },
    "subject": {
        "reference": "Patient/Patient-JamesMetcalfe-Example",
        "identifier": {
            "system": "https://fhir.nhs.uk/Id/nhs-number",
            "value": "7449306524"
        }
    },
    "effectiveDateTime": "2023-10-01",
    "valueCodeableConcept": {
        "coding":  [
            {
                "system": "http://snomed.info/sct",
                "code": "87006007",
                "display": "Dominant autosomal hereditary disorder, incomplete penetrance"
            }
        ]
    }
}
<Observation xmlns="http://hl7.org/fhir">
    <id value="Observation-DiseasePenetrance-Example" />
    <status value="final" />
    <code>
        <coding>
            <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" />
            <version value="7" />
            <code value="R14" />
            <display value="Acutely unwell children with a likely monogenic disorder" />
        </coding>
    </code>
    <subject>
        <reference value="Patient/Patient-JamesMetcalfe-Example" />
        <identifier>
            <system value="https://fhir.nhs.uk/Id/nhs-number" />
            <value value="7449306524" />
        </identifier>
    </subject>
    <effectiveDateTime value="2023-10-01" />
    <valueCodeableConcept>
        <coding>
            <system value="http://snomed.info/sct" />
            <code value="87006007" />
            <display value="Dominant autosomal hereditary disorder, incomplete penetrance" />
        </coding>
    </valueCodeableConcept>
</Observation>