Genomics-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.

The draft profile for the UKCore-FamilyMemberHistory is provided below for completeness.


The CareConnect profile will be uplifted to the R4 UKCore in a future release
Profile url FHIR Module Normative Status
https://fhir.hl7.org.uk/StructureDefinition/UKCore-FamilyMemberHistory UKCore trial-use



idΣ0..1string
metaΣ0..1Meta
implicitRulesΣ ?!0..1uri
language0..1codeBinding
text0..1Narrative
contained0..*Resource
associatedEncounterI0..1Extension(Reference(Encounter))
id0..1string
id0..1string
extensionI0..*Extension
url1..1uriFixed Value
valueCodeableConceptCodeableConcept
id0..1string
extensionI0..*Extension
url1..1uriFixed Value
valueReferenceReference(Patient | Practitioner | PractitionerRole | RelatedPerson | Device | Organization | CareTeam)
url1..1uriFixed Value
modifierExtension?! I0..*Extension
identifierΣ0..*Identifier
instantiatesCanonicalΣ0..*canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)
instantiatesUriΣ0..*uri
statusS Σ ?!1..1codeBinding
dataAbsentReasonΣ0..1CodeableConceptBinding
patientS Σ I1..1Reference(Patient)
dateS Σ0..1dateTime
nameS Σ0..1string
relationshipS Σ1..1CodeableConceptBinding
sexΣ0..1CodeableConceptBinding
bornPeriodPeriod
bornDatedate
bornStringstring
ageAgeAge
ageRangeRange
ageStringstring
estimatedAgeΣ I0..1boolean
deceasedBooleanboolean
deceasedAgeAge
deceasedRangeRange
deceasedDatedate
deceasedStringstring
reasonCodeΣ0..*CodeableConcept
reasonReferenceΣ I0..*Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)
note0..*Annotation
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
code1..1CodeableConceptBinding
outcome0..1CodeableConceptBinding
contributedToDeath0..1boolean
onsetAgeAge
onsetRangeRange
onsetPeriodPeriod
onsetStringstring
note0..*Annotation

Differential from FamilyMemberHistory

idΣ0..1string
metaΣ0..1Meta
implicitRulesΣ ?!0..1uri
language0..1codeBinding
text0..1Narrative
contained0..*Resource
associatedEncounterI0..1Extension(Reference(Encounter))
id0..1string
id0..1string
extensionI0..*Extension
url1..1uriFixed Value
valueCodeableConceptCodeableConcept
id0..1string
extensionI0..*Extension
url1..1uriFixed Value
valueReferenceReference(Patient | Practitioner | PractitionerRole | RelatedPerson | Device | Organization | CareTeam)
url1..1uriFixed Value
modifierExtension?! I0..*Extension
identifierΣ0..*Identifier
instantiatesCanonicalΣ0..*canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)
instantiatesUriΣ0..*uri
statusS Σ ?!1..1codeBinding
dataAbsentReasonΣ0..1CodeableConceptBinding
patientS Σ I1..1Reference(Patient)
dateS Σ0..1dateTime
nameS Σ0..1string
relationshipS Σ1..1CodeableConceptBinding
sexΣ0..1CodeableConceptBinding
bornPeriodPeriod
bornDatedate
bornStringstring
ageAgeAge
ageRangeRange
ageStringstring
estimatedAgeΣ I0..1boolean
deceasedBooleanboolean
deceasedAgeAge
deceasedRangeRange
deceasedDatedate
deceasedStringstring
reasonCodeΣ0..*CodeableConcept
reasonReferenceΣ I0..*Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)
note0..*Annotation
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
code1..1CodeableConceptBinding
outcome0..1CodeableConceptBinding
contributedToDeath0..1boolean
onsetAgeAge
onsetRangeRange
onsetPeriodPeriod
onsetStringstring
note0..*Annotation

FamilyMemberHistory
DefinitionSignificant health conditions for a person related to the patient relevant in the context of care for the patient.
Cardinality0...*
Invariants
  • 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]
FamilyMemberHistory.id
DefinitionThe logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.
Cardinality0...1
Typestring
SummaryTrue
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.

FamilyMemberHistory.meta
DefinitionThe 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.
Cardinality0...1
TypeMeta
SummaryTrue
Invariants
  • ele-1: All FHIR elements must have a @value or children
    hasValue() or (children().count() > id.count())
Mappings
  • rim: n/a
  • rim: N/A
FamilyMemberHistory.implicitRules
DefinitionA 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.
Cardinality0...1
Typeuri
ModifierTrue
SummaryTrue
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.

Invariants
  • ele-1: All FHIR elements must have a @value or children
    hasValue() or (children().count() > id.count())
Mappings
  • rim: n/a
FamilyMemberHistory.language
DefinitionThe base language in which the resource is written.
Cardinality0...1
Typecode
Binding

A human language.

CommonLanguages (preferred)
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).

Invariants
  • ele-1: All FHIR elements must have a @value or children
    hasValue() or (children().count() > id.count())
Mappings
  • rim: n/a
FamilyMemberHistory.text
DefinitionA 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.
Cardinality0...1
TypeNarrative
Aliasnarrative, html, xhtml, display
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.

Invariants
  • 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?
FamilyMemberHistory.contained
DefinitionThese 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.
Cardinality0...*
TypeResource
Aliasinline resources, anonymous resources, contained resources
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.

Mappings
  • rim: Entity. Role, or Act
  • rim: N/A
FamilyMemberHistory.extension
DefinitionMay 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.
Cardinality0...*
TypeExtension
Aliasextensions, 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.

SlicingUnordered, Open, by url(Value)
Invariants
  • 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
FamilyMemberHistory.extension:associatedEncounter
DefinitionAn associated encounter reference.
Cardinality0...1
TypeExtension(Reference(Encounter))
Aliasextensions, 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.

Invariants
  • 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
FamilyMemberHistory.extension:participantR5
DefinitionAn extension to record who or what participated in the activities related to the family member history.
Cardinality0...*
TypeExtension(Complex)
Aliasextensions, 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.

Invariants
  • 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
FamilyMemberHistory.extension:participantR5.id
DefinitionUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
Cardinality0...1
Typestring
Mappings
  • rim: n/a
FamilyMemberHistory.extension:participantR5.extension
DefinitionMay 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.
Cardinality1...*
TypeExtension
Aliasextensions, 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.

SlicingUnordered, Open, by url(Value)
Invariants
  • 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
FamilyMemberHistory.extension:participantR5.extension:function
DefinitionDistinguishes the type of involvement of the actor in the activities related to the family member history.
Cardinality0...1
TypeExtension
BindingParticipationRoleType (extensible)
Aliasextensions, 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.

Invariants
  • 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
FamilyMemberHistory.extension:participantR5.extension:function.id
DefinitionUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
Cardinality0...1
Typestring
Mappings
  • rim: n/a
FamilyMemberHistory.extension:participantR5.extension:function.extension
DefinitionMay 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.
Cardinality0...*
TypeExtension
Aliasextensions, 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.

SlicingUnordered, Open, by url(Value)
Invariants
  • 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
FamilyMemberHistory.extension:participantR5.extension:function.url
DefinitionSource of the definition for the extension code - a logical name or a URL.
Cardinality1...1
Typeuri
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

function

Mappings
  • rim: N/A
FamilyMemberHistory.extension:participantR5.extension:function.value[x]
DefinitionThis 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.
Cardinality1...1
TypeCodeableConcept
Invariants
  • ele-1: All FHIR elements must have a @value or children
    hasValue() or (children().count() > id.count())
Mappings
  • rim: n/a
  • rim: N/A
FamilyMemberHistory.extension:participantR5.extension:actor
DefinitionIndicates who or what participated in the activities related to the family member history.
Cardinality1...1
TypeExtension
Aliasextensions, 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.

Invariants
  • 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
FamilyMemberHistory.extension:participantR5.extension:actor.id
DefinitionUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
Cardinality0...1
Typestring
Mappings
  • rim: n/a
FamilyMemberHistory.extension:participantR5.extension:actor.extension
DefinitionMay 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.
Cardinality0...*
TypeExtension
Aliasextensions, 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.

SlicingUnordered, Open, by url(Value)
Invariants
  • 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
FamilyMemberHistory.extension:participantR5.extension:actor.url
DefinitionSource of the definition for the extension code - a logical name or a URL.
Cardinality1...1
Typeuri
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

actor

Mappings
  • rim: N/A
FamilyMemberHistory.extension:participantR5.extension:actor.value[x]
DefinitionA reference to a Patient, Practitioner, PractitionerRole, RelatedPerson, Device, Organization, or CareTeam.
Cardinality1...1
TypeReference(Patient | Practitioner | PractitionerRole | RelatedPerson | Device | Organization | CareTeam)
Invariants
  • ele-1: All FHIR elements must have a @value or children
    hasValue() or (children().count() > id.count())
Mappings
  • rim: n/a
  • rim: N/A
FamilyMemberHistory.extension:participantR5.url
DefinitionSource of the definition for the extension code - a logical name or a URL.
Cardinality1...1
Typeuri
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

http://hl7.org/fhir/5.0/StructureDefinition/extension-FamilyMemberHistory.participant

Mappings
  • rim: N/A
FamilyMemberHistory.extension:participantR5.value[x]
DefinitionValue of extension - must be one of a constrained set of the data types (see [Extensibility](extensibility.html) for a list).
Cardinality0...0
Typebase64Binary
Invariants
  • ele-1: All FHIR elements must have a @value or children
    hasValue() or (children().count() > id.count())
Mappings
  • rim: n/a
  • rim: N/A
FamilyMemberHistory.modifierExtension
DefinitionMay 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).
Cardinality0...*
TypeExtension
ModifierTrue
Aliasextensions, user content
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.

SlicingUnordered, Open, by url(Value)
Invariants
  • 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
FamilyMemberHistory.identifier
DefinitionBusiness 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.
Cardinality0...*
TypeIdentifier
SummaryTrue
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.

Invariants
  • 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
FamilyMemberHistory.instantiatesCanonical
DefinitionThe URL pointing to a FHIR-defined protocol, guideline, orderset or other definition that is adhered to in whole or in part by this FamilyMemberHistory.
Cardinality0...*
Typecanonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)
SummaryTrue
Comments

see Canonical References

Invariants
  • 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
FamilyMemberHistory.instantiatesUri
DefinitionThe URL pointing to an externally maintained protocol, guideline, orderset or other definition that is adhered to in whole or in part by this FamilyMemberHistory.
Cardinality0...*
Typeuri
SummaryTrue
Comments

This might be an HTML page, PDF, etc. or could just be a non-resolvable URI identifier.

Invariants
  • 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
FamilyMemberHistory.status
DefinitionA code specifying the status of the record of the family history of a specific family member.
Cardinality1...1
Typecode
Binding

A code that identifies the status of the family history record.

FamilyHistoryStatus (required)
Must SupportTrue
ModifierTrue
SummaryTrue
Comments

This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid.

Invariants
  • 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
FamilyMemberHistory.dataAbsentReason
DefinitionDescribes why the family member's history is not available.
Cardinality0...1
TypeCodeableConcept
Binding

Codes describing the reason why a family member's history is not available.

FamilyHistoryAbsentReason (extensible)
SummaryTrue
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.

Invariants
  • 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
FamilyMemberHistory.patient
DefinitionThe person who this history concerns.
Cardinality1...1
TypeReference(Patient)
Must SupportTrue
SummaryTrue
AliasProband
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.

Invariants
  • 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
FamilyMemberHistory.date
DefinitionThe date (and possibly time) when the family member history was recorded or last updated.
Cardinality0...1
TypedateTime
Must SupportTrue
SummaryTrue
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.

Invariants
  • 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
FamilyMemberHistory.name
DefinitionThis will either be a name or a description; e.g. "Aunt Susan", "my cousin with the red hair".
Cardinality0...1
Typestring
Must SupportTrue
SummaryTrue
Requirements

Allows greater ease in ensuring the same person is being talked about.

Comments

Note that FHIR strings SHALL NOT exceed 1MB in size

Invariants
  • ele-1: All FHIR elements must have a @value or children
    hasValue() or (children().count() > id.count())
Mappings
  • rim: n/a
  • rim: name
FamilyMemberHistory.relationship
DefinitionThe type of relationship this person has to the patient (father, mother, brother etc.).
Cardinality1...1
TypeCodeableConcept
Binding

The nature of the relationship between the patient and the related person being described in the family member history.

UKCorePersonRelationshipType (extensible)
Must SupportTrue
SummaryTrue
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.

Invariants
  • 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
FamilyMemberHistory.sex
DefinitionThe birth sex of the family member.
Cardinality0...1
TypeCodeableConcept
Binding

Codes describing the sex assigned at birth as documented on the birth registration.

AdministrativeGender (extensible)
SummaryTrue
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.

Invariants
  • 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
FamilyMemberHistory.born[x]
DefinitionThe actual or approximate date of birth of the relative.
Cardinality0...1
TypePeriod
Requirements

Allows calculation of the relative's age.

Invariants
  • 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)
FamilyMemberHistory.age[x]
DefinitionThe age of the relative at the time the family member history is recorded.
Cardinality0...1
TypeAge
SummaryTrue
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.

Invariants
  • 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
FamilyMemberHistory.estimatedAge
DefinitionIf true, indicates that the age value specified is an estimated value.
Cardinality0...1
Typeboolean
SummaryTrue
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.

Invariants
  • ele-1: All FHIR elements must have a @value or children
    hasValue() or (children().count() > id.count())
Mappings
  • rim: n/a
FamilyMemberHistory.deceased[x]
DefinitionDeceased flag or the actual or approximate age of the relative at the time of death for the family member history record.
Cardinality0...1
Typeboolean
SummaryTrue
Invariants
  • 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
FamilyMemberHistory.reasonCode
DefinitionDescribes why the family member history occurred in coded or textual form.
Cardinality0...*
TypeCodeableConcept
Binding

Codes indicating why the family member history was done.

SNOMEDCTClinicalFindings (example)
SummaryTrue
Comments

Textual reasons can be captured using reasonCode.text.

Invariants
  • 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
FamilyMemberHistory.reasonReference
DefinitionIndicates a Condition, Observation, AllergyIntolerance, or QuestionnaireResponse that justifies this family member history event.
Cardinality0...*
TypeReference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)
SummaryTrue
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.

Invariants
  • 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
FamilyMemberHistory.note
DefinitionThis 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.
Cardinality0...*
TypeAnnotation
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).

Invariants
  • 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
FamilyMemberHistory.condition
DefinitionThe 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.
Cardinality0...*
TypeBackboneElement
Must SupportTrue
Invariants
  • 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]
FamilyMemberHistory.condition.id
DefinitionUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
Cardinality0...1
Typestring
Mappings
  • rim: n/a
FamilyMemberHistory.condition.extension
DefinitionMay 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.
Cardinality0...*
TypeExtension
Aliasextensions, 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.

SlicingUnordered, Open, by url(Value)
Invariants
  • 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
FamilyMemberHistory.condition.modifierExtension
DefinitionMay 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).
Cardinality0...*
TypeExtension
ModifierTrue
SummaryTrue
Aliasextensions, user content, modifiers
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.

Invariants
  • 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
FamilyMemberHistory.condition.code
DefinitionThe 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.
Cardinality1...1
TypeCodeableConcept
Binding

Identification of the Condition or diagnosis.

Condition/Problem/DiagnosisCodes (preferred)
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.

Invariants
  • 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
FamilyMemberHistory.condition.outcome
DefinitionIndicates what happened following the condition. If the condition resulted in death, deceased date is captured on the relation.
Cardinality0...1
TypeCodeableConcept
Binding

The result of the condition for the patient; e.g. death, permanent disability, temporary disability, etc.

ConditionOutcomeCodes (preferred)
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.

Invariants
  • 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
FamilyMemberHistory.condition.contributedToDeath
DefinitionThis condition contributed to the cause of death of the related person. If contributedToDeath is not populated, then it is unknown.
Cardinality0...1
Typeboolean
Invariants
  • ele-1: All FHIR elements must have a @value or children
    hasValue() or (children().count() > id.count())
Mappings
  • rim: n/a
FamilyMemberHistory.condition.onset[x]
DefinitionEither 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.
Cardinality0...1
TypeAge
Requirements

Age of onset of a condition in relatives is predictive of risk for the patient.

Invariants
  • 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
FamilyMemberHistory.condition.note
DefinitionAn area where general notes can be placed about this specific condition.
Cardinality0...*
TypeAnnotation
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).

Invariants
  • 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


FHIRMDSHL7v2
FamilyMemberHistoryPedigree details/diagram, Disease penetranceN/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)

Constraint Profiles

Profiles indicating preferred element cardinality for use in Genomics, not to be used for validation

nameprofile
NHSDigital_FamilyMemberHistory_Genomicshttps://fhir.nhs.uk/StructureDefinition/NHSDigital-FamilyMemberHistory-Genomics

Additional Guidance

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"
            }
        ]
    }