FHIR Genomics Implementation Guide

Notice

Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.

Patient-MeirLiebermanStripped-Example

Example of a patient record sent to the order management service where the patient is registered with PDS. In this case patient demographics are stripped from the resource.

Patient

id : Patient-MeirLiebermanStripped-Example

extension

url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex

value

coding

system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender

code : M

display : Male

extension

url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory

value

coding

system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland

code : A

display : White - British

identifier

system : https://fhir.nhs.uk/Id/nhs-number

value : 9449307873

extension

url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus

value

coding

system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland

version : 2.2.0

code : 01

display : Number present and verified

identifier

system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24

value : RGT012423

assigner

identifier

system : https://fhir.nhs.uk/Id/ods-organization-code

value : RGT01

identifier

system : https://fhir.nhs.uk/Id/genomics-pedigree-number

value : P12345

link

other

reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307873

type : seealso

{
    "resourceType": "Patient",
    "id": "Patient-MeirLiebermanStripped-Example",
    "extension":  [
        {
            "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex",
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "system": "http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender",
                        "code": "M",
                        "display": "Male"
                    }
                ]
            }
        },
        {
            "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory",
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland",
                        "code": "A",
                        "display": "White - British"
                    }
                ]
            }
        }
    ],
    "identifier":  [
        {
            "system": "https://fhir.nhs.uk/Id/nhs-number",
            "value": "9449307873",
            "extension":  [
                {
                    "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus",
                    "valueCodeableConcept": {
                        "coding":  [
                            {
                                "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland",
                                "version": "2.2.0",
                                "code": "01",
                                "display": "Number present and verified"
                            }
                        ]
                    }
                }
            ]
        },
        {
            "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24",
            "value": "RGT012423",
            "assigner": {
                "identifier": {
                    "system": "https://fhir.nhs.uk/Id/ods-organization-code",
                    "value": "RGT01"
                }
            }
        },
        {
            "system": "https://fhir.nhs.uk/Id/genomics-pedigree-number",
            "value": "P12345"
        }
    ],
    "link":  [
        {
            "other": {
                "reference": "https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307873"
            },
            "type": "seealso"
        }
    ]
}

<Patient xmlns="http://hl7.org/fhir">
    <id value="Patient-MeirLiebermanStripped-Example" />
    <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex">
        <valueCodeableConcept>
            <coding>
                <system value="http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender" />
                <code value="M" />
                <display value="Male" />
            </coding>
        </valueCodeableConcept>
    </extension>
    <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory">
        <valueCodeableConcept>
            <coding>
                <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland" />
                <code value="A" />
                <display value="White - British" />
            </coding>
        </valueCodeableConcept>
    </extension>
    <identifier>
        <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
            <valueCodeableConcept>
                <coding>
                    <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland" />
                    <version value="2.2.0" />
                    <code value="01" />
                    <display value="Number present and verified" />
                </coding>
            </valueCodeableConcept>
        </extension>
        <system value="https://fhir.nhs.uk/Id/nhs-number" />
        <value value="9449307873" />
    </identifier>
    <identifier>
        <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" />
        <value value="RGT012423" />
        <assigner>
            <identifier>
                <system value="https://fhir.nhs.uk/Id/ods-organization-code" />
                <value value="RGT01" />
            </identifier>
        </assigner>
    </identifier>
    <identifier>
        <system value="https://fhir.nhs.uk/Id/genomics-pedigree-number" />
        <value value="P12345" />
    </identifier>
    <link>
        <other>
            <reference value="https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307873" />
        </other>
        <type value="seealso" />
    </link>
</Patient>

Notice

Patient-MeirLiebermanStripped-Example

Propose a change to Patient-MeirLiebermanStripped-Example