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.

ExtensionGenomicPatientRole

Usage

An Extension used to identify the role of the patient (ServiceRequest.subject) in a genomic test (e.g. either as proband or consultand).

Context of Use

Patient

Canonical_URL	Status	Current_Version	Last_Updated	Description	Profile_Purpose
https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role	draft	0.1.0	2025-12-17	An Extension used to identify the role of the patient (ServiceRequest.subject) in a genomic test (e.g. either as proband or consultand).	This is a use case from Genomics, used to record the role of the patient (ServiceRequest.subject) in a genomic test .

Tree View

ExtensionGenomicPatientRole (Extension)	C		Extension	There are no (further) constraints on this element Element id Extension Short description Optional Extensions Element Definition Optional Extension Element - found in all resources. Data type Extension Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a rim: N/A
id		0..1	string	There are no (further) constraints on this element Element id Extension.id Short description Unique id for inter-element referencing Definition Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. Data type string Mappings rim: n/a
extension	C	0..0	Extension	There are no (further) constraints on this element Element id Extension.extension Short description Additional content defined by implementations Alternate names extensions, user content Definition May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a rim: N/A
url		1..1	uriFixed Value	Element id Extension.url Short description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL. Comments The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension. Data type uri Fixed value https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role Mappings rim: N/A
value[x]		1..1	Binding	Element id Extension.value[x] Short description An Extension used to identify the role of the subject patient in the genomic test (proband vs consultand) Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). Binding GenomicsPatientRole (required) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a rim: N/A
valueCodeableConcept			CodeableConcept	Data type CodeableConcept

Detailed Descriptions

Extension
Short	Optional Extensions Element
Definition	Optional Extension Element - found in all resources.
Cardinality	0..1
Conditions	The cardinality or value of this element may be affected by these constraints: ele-1
Constraints	ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
Mappings	rim: n/a rim: N/A
Extension.id
Short	Unique id for inter-element referencing
Definition	Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
Cardinality	0..1
Type	string
Mappings	rim: n/a
Extension.extension
Short	Additional content defined by implementations
Definition	May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.
Cardinality	0..0
Type	Extension
Alias	extensions, user content
Comments	There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
Slicing	Unordered, Open, by url(Value) Extensions are always sliced by (at least) url
Conditions	The cardinality or value of this element may be affected by these constraints: ele-1
Constraints	ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
Mappings	rim: n/a rim: N/A
Extension.url
Short	identifies the meaning of the extension
Definition	Source of the definition for the extension code - a logical name or a URL.
Cardinality	1..1
Type	uri
Comments	The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.
Fixed Value	https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role
Mappings	rim: N/A
Extension.value[x]
Short	An Extension used to identify the role of the subject patient in the genomic test (proband vs consultand)
Definition	Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).
Cardinality	1..1
Type	CodeableConcept
Binding	GenomicsPatientRole (required)
Conditions	The cardinality or value of this element may be affected by these constraints: ele-1
Constraints	ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())`
Mappings	rim: n/a rim: N/A

Table View

Extension		..1
Extension.extension		..0
Extension.url		..
Extension.value[x]	CodeableConcept	1..

XML View

<id value="Extension-Genomic-Patient-Role" />
<url value="https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role" />
<version value="0.1.0" />
<name value="ExtensionGenomicPatientRole" />
<title value="Extension Genomic Patient Role" />
<status value="draft" />
<date value="2025-12-17" />
<publisher value="NHS England" />
<contact>
<name value="NHS England" />
<telecom>
<system value="email" />
<value value="interoperabilityteam@nhs.net" />
<use value="work" />
<rank value="1" />
</telecom>
</contact>
<description value="An Extension used to identify the role of the patient (ServiceRequest.subject)  in a genomic test (e.g. either as proband or consultand)." />
<purpose value="This is a use case from Genomics, used to record the role of the patient (ServiceRequest.subject)  in a genomic test ." />
<copyright value="Copyright © 2025+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at  http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at  https://www.hl7.org/fhir/license.html." />
<fhirVersion value="4.0.1" />
<kind value="complex-type" />
<abstract value="false" />
<context>
<type value="element" />
<expression value="ServiceRequest" />
</context>
<type value="Extension" />
<baseDefinition value="http://hl7.org/fhir/StructureDefinition/Extension" />
<derivation value="constraint" />
<differential>
<element id="Extension">
<path value="Extension" />
<max value="1" />
</element>
<element id="Extension.extension">
<path value="Extension.extension" />
<max value="0" />
</element>
<element id="Extension.url">
<path value="Extension.url" />
<fixedUri value="https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role" />
</element>
<element id="Extension.value[x]">
<path value="Extension.value[x]" />
<short value="An Extension used to identify the role of the subject patient in the genomic test (proband vs consultand)" />
<min value="1" />
<type>
<code value="CodeableConcept" />
</type>
<binding>
<strength value="required" />
<valueSet value="https://fhir.nhs.uk/ValueSet/genomics-patient-role" />
</binding>
</element>
</differential>

</StructureDefinition>

JSON View

{

"resourceType": "StructureDefinition",
"id": "Extension-Genomic-Patient-Role",
"url": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role",
"version": "0.1.0",
"name": "ExtensionGenomicPatientRole",
"title": "Extension Genomic Patient Role",
"status": "draft",
"date": "2025-12-17",
"publisher": "NHS England",
"contact": [
{
"name": "NHS England",
"telecom": [
{
"system": "email",
"value": "interoperabilityteam@nhs.net",
"use": "work",
"rank": 1
}
]
}
],
"description": "An Extension used to identify the role of the patient (ServiceRequest.subject)  in a genomic test (e.g. either as proband or consultand).",
"purpose": "This is a use case from Genomics, used to record the role of the patient (ServiceRequest.subject)  in a genomic test .",
"copyright": "Copyright © 2025+ NHS England Licensed under the Apache License, Version 2.0 (the \\\\\\\"License\\\\\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at  http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\\\\\"AS IS\\\\\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at  https://www.hl7.org/fhir/license.html.",
"fhirVersion": "4.0.1",
"kind": "complex-type",
"abstract": false,
"context": [
{
"type": "element",
"expression": "ServiceRequest"
}
],
"type": "Extension",
"baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
"derivation": "constraint",
"differential": {
"element": [
{
"id": "Extension",
"path": "Extension",
"max": "1"
},
{
"id": "Extension.extension",
"path": "Extension.extension",
"max": "0"
},
{
"id": "Extension.url",
"path": "Extension.url",
"fixedUri": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role"
},
{
"id": "Extension.value[x]",
"path": "Extension.value[x]",
"short": "An Extension used to identify the role of the subject patient in the genomic test (proband vs consultand)",
"min": 1,
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "https://fhir.nhs.uk/ValueSet/genomics-patient-role"
}
}
]
}

}

https://simplifier.net/guide/fhir-genomics-implementation-guide/home/fhirassets/profiles/all-profiles/ukcore-servicerequest.page.md?version=current#extension:genomicPatientRole

Notice

ExtensionGenomicPatientRole

Usage

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Detailed Descriptions

Table View

XML View

JSON View

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