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.

StructureDefinition UKCore-FamilyMemberHistory

For collecting relevant Family Member History to aid interpretation of Genomic results. This is limited to collection of Pedigree information. The FamilyMemberHistory resource is not to be used to record participants involved in testing, e.g. in the case of Duo/Trio scenarios (in this case the RelatedPerson resource SHOULD be used instead.

The Genomics FamilyMemberHistory is currently pending Clinical and Technical Assurance of the base UKCore resource. Once this profile becomes active in UKCore its suitability for use and need for profiling within Genomics will be assessed.

Profile url	FHIR Module	Normative Status
https://fhir.hl7.org.uk/StructureDefinition/UKCore-FamilyMemberHistory	UKCore	trial-use

UKCoreFamilyMemberHistory (FamilyMemberHistory)	I		FamilyMemberHistory	There are no (further) constraints on this element Element id FamilyMemberHistory Short description Information about patient's relatives, relevant for patient Definition Significant health conditions for a person related to the patient relevant in the context of care for the patient. Data type FamilyMemberHistory Constraints dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources `contained.contained.empty()` dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated `contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()` dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource `contained.where((('#'+id in (%resource.descendants().reference \| %resource.descendants().as(canonical) \| %resource.descendants().as(uri) \| %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()` dom-6: A resource should have narrative for robust management text.`div`.exists() dom-5: If a resource is contained in another resource, it SHALL NOT have a security label `contained.meta.security.empty()` fhs-2: Can only have estimatedAge if age[x] is present `age.exists() or estimatedAge.empty()` fhs-1: Can have age[x] or born[x], but not both `age.empty() or born.empty()` Mappings rim: Entity. Role, or Act workflow: Event v2: Not in scope for v2 rim: Observation[classCode=OBS, moodCode=EVN]
id	Σ	0..1	string	There are no (further) constraints on this element Element id FamilyMemberHistory.id Short description Logical id of this artifact Definition The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes. Comments The only time that a resource does not have an id is when it is being submitted to the server using a create operation. Data type string
meta	Σ	0..1	Meta	There are no (further) constraints on this element Element id FamilyMemberHistory.meta Short description Metadata about the resource Definition The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource. Data type Meta 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
implicitRules	Σ ?!	0..1	uri	There are no (further) constraints on this element Element id FamilyMemberHistory.implicitRules Short description A set of rules under which this content was created Definition A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc. Comments Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc. Data type uri Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
language		0..1	codeBinding	There are no (further) constraints on this element Element id FamilyMemberHistory.language Short description Language of the resource content Definition The base language in which the resource is written. Comments Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute). Data type code Binding A human language. CommonLanguages (preferred) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
text		0..1	Narrative	There are no (further) constraints on this element Element id FamilyMemberHistory.text Short description Text summary of the resource, for human interpretation Alternate names narrative, html, xhtml, display Definition A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety. Comments Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later. Data type Narrative 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 rim: Act.text?
contained		0..*	Resource	There are no (further) constraints on this element Element id FamilyMemberHistory.contained Short description Contained, inline Resources Alternate names inline resources, anonymous resources, contained resources Definition These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope. Comments This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels. Data type Resource Mappings rim: Entity. Role, or Act rim: N/A
extension	I	0..*	Extension	There are no (further) constraints on this element Element id FamilyMemberHistory.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 resource. 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 Sliced: Unordered, Open, by url(Value) Extensions are always sliced by (at least) url 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
associatedEncounter	I	0..1	Extension(Reference(Encounter))	Element id FamilyMemberHistory.extension:associatedEncounter Short description This extension is used to reference an associated encounter. Alternate names extensions, user content Definition An associated encounter reference. 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(Reference(Encounter)) Extension URL https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AssociatedEncounter 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
participantR5	I	0..*	Extension(Complex)	Element id FamilyMemberHistory.extension:participantR5 Short description Who or what participated in the activities related to the family member history. This is a R5 backport. Alternate names extensions, user content Definition An extension to record who or what participated in the activities related to the family member history. 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(Complex) Extension URL http://hl7.org/fhir/5.0/StructureDefinition/extension-FamilyMemberHistory.participant 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 FamilyMemberHistory.extension:participantR5.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	I	1..*	Extension	There are no (further) constraints on this element Element id FamilyMemberHistory.extension:participantR5.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 Sliced: Unordered, Open, by url(Value) Extensions are always sliced by (at least) url 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
function	I	0..1	ExtensionBinding	There are no (further) constraints on this element Element id FamilyMemberHistory.extension:participantR5.extension:function Short description The type of involvement in the activities related to the family member history. Alternate names extensions, user content Definition Distinguishes the type of involvement of the actor in the activities related to the family member history. 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 Binding ParticipationRoleType (extensible) 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 FamilyMemberHistory.extension:participantR5.extension:function.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	I	0..*	Extension	There are no (further) constraints on this element Element id FamilyMemberHistory.extension:participantR5.extension:function.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 Sliced: Unordered, Open, by url(Value) Extensions are always sliced by (at least) url 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	There are no (further) constraints on this element Element id FamilyMemberHistory.extension:participantR5.extension:function.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 function Mappings rim: N/A
value[x]		1..1		Element id FamilyMemberHistory.extension:participantR5.extension:function.value[x] Short description The type of involvement in the activities related to the family member history Definition This FHIR value set is comprised of Actor participation Type codes, which can be used to value FHIR agents, actors, and other role elements. The codes are intended to express how the agent participated in some activity. Sometimes referred to the agent functional-role relative to the activity. 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	There are no (further) constraints on this element Data type CodeableConcept
actor	I	1..1	Extension	There are no (further) constraints on this element Element id FamilyMemberHistory.extension:participantR5.extension:actor Short description Who or what participated in the activities related to the family member history. Alternate names extensions, user content Definition Indicates who or what participated in the activities related to the family member history. 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 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 FamilyMemberHistory.extension:participantR5.extension:actor.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	I	0..*	Extension	There are no (further) constraints on this element Element id FamilyMemberHistory.extension:participantR5.extension:actor.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 Sliced: Unordered, Open, by url(Value) Extensions are always sliced by (at least) url 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	There are no (further) constraints on this element Element id FamilyMemberHistory.extension:participantR5.extension:actor.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 actor Mappings rim: N/A
value[x]		1..1		Element id FamilyMemberHistory.extension:participantR5.extension:actor.value[x] Short description Who or what participated in the activities related to the family member history Definition A reference to a Patient, Practitioner, PractitionerRole, RelatedPerson, Device, Organization, or CareTeam. 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
valueReference			Reference(Patient \| Practitioner \| PractitionerRole \| RelatedPerson \| Device \| Organization \| CareTeam)	There are no (further) constraints on this element Data type Reference(Patient \| Practitioner \| PractitionerRole \| RelatedPerson \| Device \| Organization \| CareTeam)
url		1..1	uriFixed Value	There are no (further) constraints on this element Element id FamilyMemberHistory.extension:participantR5.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 http://hl7.org/fhir/5.0/StructureDefinition/extension-FamilyMemberHistory.participant Mappings rim: N/A
value[x]		0..0		There are no (further) constraints on this element Element id FamilyMemberHistory.extension:participantR5.value[x] Short description Value of extension Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). 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
modifierExtension	?! I	0..*	Extension	There are no (further) constraints on this element Element id FamilyMemberHistory.modifierExtension Short description Extensions that cannot be ignored Alternate names extensions, user content Definition May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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 is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). Requirements Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions. 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 Sliced: Unordered, Open, by url(Value) Extensions are always sliced by (at least) url 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
identifier	Σ	0..*	Identifier	There are no (further) constraints on this element Element id FamilyMemberHistory.identifier Short description External Id(s) for this record Definition Business identifiers assigned to this family member history by the performer or other systems which remain constant as the resource is updated and propagates from server to server. Requirements Allows identification of the family member history as it is known by various participating systems and in a way that remains consistent across servers. Comments This is a business identifier, not a resource identifier (see discussion). It is best practice for the identifier to only appear on a single resource instance, however business practices may occasionally dictate that multiple resource instances with the same identifier can exist - possibly even with different resource types. For example, multiple Patient and a Person resource instance might share the same social insurance number. Data type Identifier Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CX / EI (occasionally, more often EI maps to a resource id or a URL) rim: II - The Identifier class is a little looser than the v3 type II because it allows URIs as well as registered OIDs or GUIDs. Also maps to Role[classCode=IDENT] servd: Identifier workflow: Event.identifier w5: FiveWs.identifier rim: id
instantiatesCanonical	Σ	0..*	canonical(PlanDefinition \| Questionnaire \| ActivityDefinition \| Measure \| OperationDefinition)	There are no (further) constraints on this element Element id FamilyMemberHistory.instantiatesCanonical Short description Instantiates FHIR protocol or definition Definition The URL pointing to a FHIR-defined protocol, guideline, orderset or other definition that is adhered to in whole or in part by this FamilyMemberHistory. Comments see Canonical References Data type canonical(PlanDefinition \| Questionnaire \| ActivityDefinition \| Measure \| OperationDefinition) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a workflow: Event.instantiatesCanonical rim: .outboundRelationship[typeCode=DEFN].target
instantiatesUri	Σ	0..*	uri	There are no (further) constraints on this element Element id FamilyMemberHistory.instantiatesUri Short description Instantiates external protocol or definition Definition The URL pointing to an externally maintained protocol, guideline, orderset or other definition that is adhered to in whole or in part by this FamilyMemberHistory. Comments This might be an HTML page, PDF, etc. or could just be a non-resolvable URI identifier. Data type uri Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a workflow: Event.instantiatesUri rim: .outboundRelationship[typeCode=DEFN].target
status	S Σ ?!	1..1	codeBinding	Element id FamilyMemberHistory.status Short description A code specifying the status of the record of the family history of a specific family member. Definition A code specifying the status of the record of the family history of a specific family member. Comments This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid. Data type code Binding A code that identifies the status of the family history record. FamilyHistoryStatus (required) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a workflow: Event.status w5: FiveWs.status
dataAbsentReason	Σ	0..1	CodeableConceptBinding	Element id FamilyMemberHistory.dataAbsentReason Short description subject-unknown \| withheld \| unable-to-obtain \| deferred Definition Describes why the family member's history is not available. Requirements This is a separate element to allow it to have a distinct binding from reasonCode. Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data type CodeableConcept Binding Codes describing the reason why a family member's history is not available. FamilyHistoryAbsentReason (extensible) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD rim: .reasonCode
patient	S Σ I	1..1	Reference(Patient)	Element id FamilyMemberHistory.patient Short description The person who this history concerns. Alternate names Proband Definition The person who this history concerns. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data type Reference(Patient) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow: Event.subject w5: FiveWs.subject[x] rim: participation[typeCode=SBJ].role w5: FiveWs.subject
date	S Σ	0..1	dateTime	Element id FamilyMemberHistory.date Short description The date (and possibly time) when the family member history was recorded or last updated. Definition The date (and possibly time) when the family member history was recorded or last updated. Requirements Allows determination of how current the summary is. Comments This should be captured even if the same as the date on the List aggregating the full family history. Data type dateTime Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a w5: FiveWs.recorded rim: participation[typeCode=AUT].time
name	S Σ	0..1	string	Element id FamilyMemberHistory.name Short description Allows greater ease in ensuring the same person is being talked about. Definition This will either be a name or a description; e.g. "Aunt Susan", "my cousin with the red hair". Requirements Allows greater ease in ensuring the same person is being talked about. Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data type string Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a rim: name
relationship	S Σ	1..1	CodeableConceptBinding	Element id FamilyMemberHistory.relationship Short description Relationship to the subject. Definition The type of relationship this person has to the patient (father, mother, brother etc.). Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data type CodeableConcept Binding The nature of the relationship between the patient and the related person being described in the family member history. UKCorePersonRelationshipType (extensible) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD rim: code
sex	Σ	0..1	CodeableConceptBinding	There are no (further) constraints on this element Element id FamilyMemberHistory.sex Short description male \| female \| other \| unknown Definition The birth sex of the family member. Requirements Not all relationship codes imply sex and the relative's sex can be relevant for risk assessments. Comments This element should ideally reflect whether the individual is genetically male or female. However, as reported information based on the knowledge of the patient or reporting friend/relative, there may be situations where the reported sex might not be totally accurate. E.g. 'Aunt Sue' might be XY rather than XX. Questions soliciting this information should be phrased to encourage capture of genetic sex where known. However, systems performing analysis should also allow for the possibility of imprecision with this element. Data type CodeableConcept Binding Codes describing the sex assigned at birth as documented on the birth registration. AdministrativeGender (extensible) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD
born[x]	I	0..1		There are no (further) constraints on this element Element id FamilyMemberHistory.born[x] Short description (approximate) date of birth Definition The actual or approximate date of birth of the relative. Requirements Allows calculation of the relative's age. Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a rim: player[classCode=LIV, determinerCode=INSTANCE]. birthDate (could be URG)
bornPeriod			Period	There are no (further) constraints on this element Data type Period
bornDate			date	There are no (further) constraints on this element Data type date
bornString			string	There are no (further) constraints on this element Data type string
age[x]	Σ I	0..1		There are no (further) constraints on this element Element id FamilyMemberHistory.age[x] Short description (approximate) age Definition The age of the relative at the time the family member history is recorded. Requirements While age can be calculated from date of birth, sometimes recording age directly is more natural for clinicians. Comments use estimatedAge to indicate whether the age is actual or not. Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a rim: participation[typeCode=SBJ].act[classCode=OBS,moodCode=EVN, code="age"].value
ageAge			Age	There are no (further) constraints on this element Data type Age
ageRange			Range	There are no (further) constraints on this element Data type Range
ageString			string	There are no (further) constraints on this element Data type string
estimatedAge	Σ I	0..1	boolean	There are no (further) constraints on this element Element id FamilyMemberHistory.estimatedAge Short description Age is estimated? Definition If true, indicates that the age value specified is an estimated value. Requirements Clinicians often prefer to specify an estimaged age rather than an age range. Comments This element is labeled as a modifier because the fact that age is estimated can/should change the results of any algorithm that calculates based on the specified age. Meaning when missing It is unknown whether the age is an estimate or not Data type boolean Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
deceased[x]	Σ	0..1		There are no (further) constraints on this element Element id FamilyMemberHistory.deceased[x] Short description Dead? How old/when? Definition Deceased flag or the actual or approximate age of the relative at the time of death for the family member history record. Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a rim: player[classCode=LIV, determinerCode=INSTANCE].deceasedInd, deceasedDate (could be URG) For age, you'd hang an observation off the role
deceasedBoolean			boolean	There are no (further) constraints on this element Data type boolean
deceasedAge			Age	There are no (further) constraints on this element Data type Age
deceasedRange			Range	There are no (further) constraints on this element Data type Range
deceasedDate			date	There are no (further) constraints on this element Data type date
deceasedString			string	There are no (further) constraints on this element Data type string
reasonCode	Σ	0..*	CodeableConcept	There are no (further) constraints on this element Element id FamilyMemberHistory.reasonCode Short description Why was family member history performed? Definition Describes why the family member history occurred in coded or textual form. Comments Textual reasons can be captured using reasonCode.text. Data type CodeableConcept Binding Codes indicating why the family member history was done. SNOMEDCTClinicalFindings (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD workflow: Event.reasonCode w5: FiveWs.why[x] rim: .reasonCode
reasonReference	Σ I	0..*	Reference(Condition \| Observation \| AllergyIntolerance \| QuestionnaireResponse \| DiagnosticReport \| DocumentReference)	There are no (further) constraints on this element Element id FamilyMemberHistory.reasonReference Short description Why was family member history performed? Definition Indicates a Condition, Observation, AllergyIntolerance, or QuestionnaireResponse that justifies this family member history event. Comments References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Data type Reference(Condition \| Observation \| AllergyIntolerance \| QuestionnaireResponse \| DiagnosticReport \| DocumentReference) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) workflow: Event.reasonReference w5: FiveWs.why[x] rim: .outboundRelationship[typeCode=RSON].target
note		0..*	Annotation	There are no (further) constraints on this element Element id FamilyMemberHistory.note Short description General note about related person Definition This property allows a non condition-specific note to the made about the related person. Ideally, the note would be in the condition property, but this is not always possible. Comments For systems that do not have structured annotations, they can simply communicate a single annotation with no author or time. This element may need to be included in narrative because of the potential for modifying information. Annotations SHOULD NOT be used to communicate "modifying" information that could be computable. (This is a SHOULD because enforcing user behavior is nearly impossible). Data type Annotation Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: N/A rim: Act workflow: Event.note rim: inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code=ActCode#ANNGEN].value
condition	S	0..*	BackboneElement	Element id FamilyMemberHistory.condition Short description Condition that the related person had. Definition The significant Conditions (or condition) that the family member had. This is a repeating section to allow a system to represent more than one condition per resource, though there is nothing stopping multiple resources - one per condition. Data type BackboneElement Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a rim: inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code=ActCode#ASSERTION, value<Diagnosis]
id		0..1	string	There are no (further) constraints on this element Element id FamilyMemberHistory.condition.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	I	0..*	Extension	There are no (further) constraints on this element Element id FamilyMemberHistory.condition.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 Sliced: Unordered, Open, by url(Value) Extensions are always sliced by (at least) url 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
modifierExtension	Σ ?! I	0..*	Extension	There are no (further) constraints on this element Element id FamilyMemberHistory.condition.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers Definition May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). Requirements Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions. 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 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
code		1..1	CodeableConceptBinding	Element id FamilyMemberHistory.condition.code Short description Condition suffered by relation Definition The actual condition specified. Could be a coded condition (like MI or Diabetes) or a less specific string like 'cancer' depending on how much is known about the condition and the capabilities of the creating system. Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data type CodeableConcept Binding Identification of the Condition or diagnosis. Condition/Problem/DiagnosisCodes (preferred) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD rim: .value
outcome		0..1	CodeableConceptBinding	Element id FamilyMemberHistory.condition.outcome Short description deceased \| permanent disability \| etc. Definition Indicates what happened following the condition. If the condition resulted in death, deceased date is captured on the relation. Comments Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. Data type CodeableConcept Binding The result of the condition for the patient; e.g. death, permanent disability, temporary disability, etc. ConditionOutcomeCodes (preferred) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD rim: outboundRelationship[typeCode=OUTC)].target[classCode=OBS, moodCode=EVN, code=ActCode#ASSERTION].value
contributedToDeath		0..1	boolean	There are no (further) constraints on this element Element id FamilyMemberHistory.condition.contributedToDeath Short description Whether the condition contributed to the cause of death Definition This condition contributed to the cause of death of the related person. If contributedToDeath is not populated, then it is unknown. Data type boolean Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
onset[x]		0..1		There are no (further) constraints on this element Element id FamilyMemberHistory.condition.onset[x] Short description When condition first manifested Definition Either the age of onset, range of approximate age or descriptive string can be recorded. For conditions with multiple occurrences, this describes the first known occurrence. Requirements Age of onset of a condition in relatives is predictive of risk for the patient. Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a rim: inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="Subject Age at measurement", value<Diagnosis].value[@xsi:typeCode='TS' or 'IVL_TS'] Use originalText for string
onsetAge			Age	There are no (further) constraints on this element Data type Age
onsetRange			Range	There are no (further) constraints on this element Data type Range
onsetPeriod			Period	There are no (further) constraints on this element Data type Period
onsetString			string	There are no (further) constraints on this element Data type string
note		0..*	Annotation	There are no (further) constraints on this element Element id FamilyMemberHistory.condition.note Short description Extra information about condition Definition An area where general notes can be placed about this specific condition. Comments For systems that do not have structured annotations, they can simply communicate a single annotation with no author or time. This element may need to be included in narrative because of the potential for modifying information. Annotations SHOULD NOT be used to communicate "modifying" information that could be computable. (This is a SHOULD because enforcing user behavior is nearly impossible). Data type Annotation Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: N/A rim: Act rim: inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code=ActCode#ANNGEN].value

FamilyMemberHistory-MildCognitiveDisorder-Example

FHIR	MDS	HL7v2
FamilyMemberHistory	Pedigree details/diagram, Disease penetrance	N/A not in scope for HL7v2, could be added as additional DG1 segments related to relatives (representation of family history in HL7v2 still pending investigation)

Propose a change to UKCore-FamilyMemberHistory

extension:genetics-observation

An extension on the FamilyMemberHistory resource to include Observations relevant to Genomic testing/interpretation.

"extension":  [
        {
            "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation",
            "valueReference": {
                "reference": "Observation/Observation-BloodPressure-Example"
            }
        }
    ],

identifier

This SHOULD be NHS number or local identifier (if NHS number is unavailable e.g. for non UK residents). If a local identifier is used, an assigner SHALL be provided. The FamilyMemberHistory.identifier field SHALL match the identifier used for a RelatedPerson resource if the same person is being referenced.

   "identifier": {
      "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24",
      "value": "FT-RWT13521",
      "assigner": {
        "identifier": {
          "system": "https://fhir.nhs.uk/Id/ods-organization-code",
          "value": "RAX"
        }
      }
    }
  }

status

Used to mark the completeness of a given family member's clinical history. If the history of a family member is expected but no history could be obtained, this element SHOULD be filled with 'health-unknown'.

Assertions regarding absence of relevant history SHOULD follow guidance within the HL7 FHIR R4 FamilyMemberHistory resource

"status": "completed",

patient

SHALL be present. Reference to the associated proband Patient for which this family history is being obtained. This MAY be through a resource reference if the ID on the central service is known (or provided within the transaction bundle) or through NHS number where this is known and has been traced through PDS

"subject": {
        "reference": "Patient/Patient-MeirLieberman-Example",
        "identifier": {
            "system": "https://fhir.nhs.uk/Id/nhs-number",
            "value": "9449307873"
        }
    }

relationship

SHALL be present. Relationship between the person the FamilyMemberHistory references and the proband Patient. Clinical histories for each family member are expected to be recorded in separate FamilyMemberHistory resources. If multiple resources are required, both FamilyMemberHistory and related clinical artifacts such as Condition/Observation resources, these MAY be contained within a List resource to improve readability.

"relationship": {
        "coding":  [
            {
                "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
                "code": "PRN",
                "display": "parent"
            }
        ]
    }