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.

FamilyMemberHistory-NonConsanguinousUnionProbandFather-Example

Example of a FamilyMemberHistory resource, with an attached Observation, indicating the patient is not a product of a Consanguinous union. Usage of, and coding within, FamilyMemberHistory resources is currently under review.

FamilyMemberHistory

id : FamilyMemberHistory-NonConsanguinousUnionProbandFather-Example

extension

url : http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation

value

reference : Observation/Observation-NonConsanguinousUnionProbandFather-Example

status : completed

patient

reference : Patient/Patient-PheobeSmithamFather-Example

identifier

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

value : 9449307636

relationship

coding

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

code : PRN

display : parent

{
    "resourceType": "FamilyMemberHistory",
    "id": "FamilyMemberHistory-NonConsanguinousUnionProbandFather-Example",
    "extension":  [
        {
            "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation",
            "valueReference": {
                "reference": "Observation/Observation-NonConsanguinousUnionProbandFather-Example"
            }
        }
    ],
    "status": "completed",
    "patient": {
        "reference": "Patient/Patient-PheobeSmithamFather-Example",
        "identifier": {
            "system": "https://fhir.nhs.uk/Id/nhs-number",
            "value": "9449307636"
        }
    },
    "relationship": {
        "coding":  [
            {
                "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
                "code": "PRN",
                "display": "parent"
            }
        ]
    }
}

<FamilyMemberHistory xmlns="http://hl7.org/fhir">
    <id value="FamilyMemberHistory-NonConsanguinousUnionProbandFather-Example" />
    <extension url="http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation">
        <valueReference>
            <reference value="Observation/Observation-NonConsanguinousUnionProbandFather-Example" />
        </valueReference>
    </extension>
    <status value="completed" />
    <patient>
        <reference value="Patient/Patient-PheobeSmithamFather-Example" />
        <identifier>
            <system value="https://fhir.nhs.uk/Id/nhs-number" />
            <value value="9449307636" />
        </identifier>
    </patient>
    <relationship>
        <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v3-RoleCode" />
            <code value="PRN" />
            <display value="parent" />
        </coding>
    </relationship>
</FamilyMemberHistory>

Notice

FamilyMemberHistory-NonConsanguinousUnionProbandFather-Example

Propose a change to FamilyMemberHistory-NonConsanguinousUnionProbandFather-Example