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Patient Care Work Group Maturity Level: 1Trial Use Use Context: Any

Definitions for the familymemberhistory-genetic Profile.

FamilyMemberHistory
Element IdFamilyMemberHistory
Definition

Significant health conditions for a person related to the patient relevant in the context of care for the patient.

Control0..*
InvariantsDefined on this element
dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources (xpath: not(parent::f:contained and f:contained))
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 (xpath: not(exists(for $contained in f:contained return $contained[not(parent::*/descendant::f:reference/@value=concat('#', $contained/*/id/@value) or descendant::f:reference[@value='#'])])))
dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated (xpath: not(exists(f:contained/*/f:meta/f:versionId)) and not(exists(f:contained/*/f:meta/f:lastUpdated)))
dom-5: If a resource is contained in another resource, it SHALL NOT have a security label (xpath: not(exists(f:contained/*/f:meta/f:security)))
dom-6: A resource should have narrative for robust management (xpath: exists(f:text/h:div))
fhs-1: Can have age[x] or born[x], but not both (xpath: not (*[starts-with(local-name(.), 'age')] and *[starts-with(local-name(.), 'birth')]))
fhs-2: Can only have estimatedAge if age[x] is present (xpath: exists(*[starts-with(local-name(.), 'age')]) or not(exists(f:estimatedAge)))
FamilyMemberHistory.id
Element IdFamilyMemberHistory.id
Definition

The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.

Control0..1
Typeid
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
Element IdFamilyMemberHistory.meta
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.

Control0..1
TypeMeta
FamilyMemberHistory.implicitRules
Element IdFamilyMemberHistory.implicitRules
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.

Control0..1
Typeuri
Is Modifiertrue (Reason: This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation)
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.

FamilyMemberHistory.language
Element IdFamilyMemberHistory.language
Definition

The base language in which the resource is written.

Control0..1
Terminology BindingA human language.
The codes SHALL be taken from Common Languages; other codes may be used where these codes are not suitable
Typecode
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).

FamilyMemberHistory.text
Element IdFamilyMemberHistory.text
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.

Control0..1
TypeNarrative
Alternate Namesnarrative, 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.

FamilyMemberHistory.contained
Element IdFamilyMemberHistory.contained
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.

Control0..*
TypeResource
Alternate Namesinline 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.

FamilyMemberHistory.extension
Element IdFamilyMemberHistory.extension
Definition

An Extension

Control0..*
TypeExtension
SlicingThis element introduces a set of slices. The slicing rules are:
  • unordered
  • Open
  • discriminators: value:url
FamilyMemberHistory.extension ([CanonicalType[http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent]])
Element IdExtension
Definition

Identifies a parent of the relative.

Control0..* This element is affected by the following invariants: ele-1
Type (Extension Type: Choice of: base64Binary, boolean, canonical, code, date, dateTime, decimal, id, instant, integer, markdown, oid, positiveInt, string, time, unsignedInt, uri, url, uuid, Address, Age, Annotation, Attachment, CodeableConcept, Coding, ContactPoint, Count, Distance, Duration, HumanName, Identifier, Money, Period, Quantity, Range, Ratio, Reference, SampledData, Signature, Timing, ParameterDefinition, DataRequirement, RelatedArtifact, ContactDetail, Contributor, TriggerDefinition, Expression, UsageContext, Dosage)
Comments

Some individuals may have more than two parents (e.g. genetic vs. adoptive parents). Even non-genetic relationships can be relevant in terms of genetic exposure.

InvariantsDefined on this element
ele-1: All FHIR elements must have a @value or children (xpath: @value|f:*|h:div)
ext-1: Must have either extensions or value[x], not both (xpath: exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')]))
FamilyMemberHistory.extension ([CanonicalType[http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling]])
Element IdExtension
Definition

Identifies a sibling of the relative.

Control0..* This element is affected by the following invariants: ele-1
Type (Extension Type: Choice of: base64Binary, boolean, canonical, code, date, dateTime, decimal, id, instant, integer, markdown, oid, positiveInt, string, time, unsignedInt, uri, url, uuid, Address, Age, Annotation, Attachment, CodeableConcept, Coding, ContactPoint, Count, Distance, Duration, HumanName, Identifier, Money, Period, Quantity, Range, Ratio, Reference, SampledData, Signature, Timing, ParameterDefinition, DataRequirement, RelatedArtifact, ContactDetail, Contributor, TriggerDefinition, Expression, UsageContext, Dosage)
Comments

Some cases may have complex inner-pedigree-tree relationship. For instance, double cousin relationship need two extra link with In pedigree tree itself. This can't be revealed by relationship to subject.

InvariantsDefined on this element
ele-1: All FHIR elements must have a @value or children (xpath: @value|f:*|h:div)
ext-1: Must have either extensions or value[x], not both (xpath: exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')]))
FamilyMemberHistory.extension ([CanonicalType[http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation]])
Element IdExtension
Definition

Allows capturing risk-relevant observations about the relative that aren't themselves a specific health condition; e.g. Certain ethnic ancestries that are disease-relevant, presence of particular genetic markers, etc.

Control0..* This element is affected by the following invariants: ele-1
Type (Extension Type: Reference(Observation))
Comments

This may be extended with additional genomics-specific resources when they are ready.

InvariantsDefined on this element
ele-1: All FHIR elements must have a @value or children (xpath: @value|f:*|h:div)
ext-1: Must have either extensions or value[x], not both (xpath: exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')]))
FamilyMemberHistory.modifierExtension
Element IdFamilyMemberHistory.modifierExtension
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. 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).

Control0..*
TypeExtension
Is Modifiertrue (Reason: Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them)
Alternate Namesextensions, 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.

FamilyMemberHistory.identifier
Element IdFamilyMemberHistory.identifier
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.

Control0..*
TypeIdentifier
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.

FamilyMemberHistory.instantiatesCanonical
Element IdFamilyMemberHistory.instantiatesCanonical
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.

Control0..*
Typecanonical(PlanDefinition)
FamilyMemberHistory.instantiatesUri
Element IdFamilyMemberHistory.instantiatesUri
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.

Control0..*
Typeuri
Comments

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

FamilyMemberHistory.status
Element IdFamilyMemberHistory.status
Definition

A code specifying the status of the record of the family history of a specific family member.

Control1..1
Terminology BindingA code that identifies the status of the family history record.
The codes SHALL be taken from FamilyHistoryStatus
Typecode
Is Modifiertrue (Reason: This element is labelled as a modifier because it is a status element that contains status entered-in-error which means that the resource should not be treated as valid)
Comments

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

FamilyMemberHistory.dataAbsentReason
Element IdFamilyMemberHistory.dataAbsentReason
Definition

Describes why the family member's history is not available.

Control0..1
Terminology BindingCodes describing the reason why a family member's history is not available.
For example codes, see FamilyHistoryAbsentReason
TypeCodeableConcept
Requirements

This is a separate element to allow it to have a distinct binding from reasonCode.

FamilyMemberHistory.patient
Element IdFamilyMemberHistory.patient
Definition

The person who this history concerns.

Control1..1
TypeReference(Patient)
Alternate NamesProband
FamilyMemberHistory.date
Element IdFamilyMemberHistory.date
Definition

The date (and possibly time) when the family member history was recorded or last updated.

Control0..1
TypedateTime
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.

FamilyMemberHistory.name
Element IdFamilyMemberHistory.name
Definition

This will either be a name or a description; e.g. "Aunt Susan", "my cousin with the red hair".

Control0..1
Typestring
Requirements

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

FamilyMemberHistory.relationship(Relationship)
Element IdFamilyMemberHistory.relationship:Relationship
Definition

The type of relationship this person has to the patient (father, mother, brother etc.).

Control1..1
Terminology BindingThe nature of the relationship between the patient and the related person being described in the family member history.
For example codes, see FamilyMember
TypeCodeableConcept
Must Supporttrue
FamilyMemberHistory.gender(Gender)
Element IdFamilyMemberHistory.gender:Gender
Definition

The birth sex of the family member.

Control0..1
Terminology BindingCodes describing the sex assigned at birth as documented on the birth registration.
The codes SHALL be taken from Birth Sex; other codes may be used where these codes are not suitable
TypeCodeableConcept
Must Supporttrue
Requirements

Not all relationship codes imply gender and the relative's gender can be relevant for risk assessments.

Comments

This element should ideally reflect whether the individual is genetically masculine or feminine. However, as reported information based on the knowledge of the patient or reporting friend/relative, there may be situations where the reported gender 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 gender where known. However, systems performing analysis should also allow for the possibility of imprecision with this element.

FamilyMemberHistory.born[x](BornAge)
Element IdFamilyMemberHistory.born[x]:BornAge
Definition

The actual or approximate date of birth of the relative.

Control0..1 This element is affected by the following invariants: fhs-1
TypeChoice of: Period, date, string
[x] NoteSee Choice of Data Types for further information about how to use [x]
Must Supporttrue
Requirements

Allows calculation of the relative's age.

FamilyMemberHistory.age[x](Age)
Element IdFamilyMemberHistory.age[x]:Age
Definition

The age of the relative at the time the family member history is recorded.

Control0..1 This element is affected by the following invariants: fhs-1
TypeChoice of: Age, Range, string
[x] NoteSee Choice of Data Types for further information about how to use [x]
Must Supporttrue
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.

FamilyMemberHistory.estimatedAge
Element IdFamilyMemberHistory.estimatedAge
Definition

If true, indicates that the age value specified is an estimated value.

Control0..1 This element is affected by the following invariants: fhs-2
Typeboolean
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 if MissingIt is unknown whether the age is an estimate or not
FamilyMemberHistory.deceased[x](DeceasedAge)
Element IdFamilyMemberHistory.deceased[x]:DeceasedAge
Definition

Deceased flag or the actual or approximate age of the relative at the time of death for the family member history record.

Control0..1
TypeChoice of: boolean, Age, Range, date, string
[x] NoteSee Choice of Data Types for further information about how to use [x]
Must Supporttrue
FamilyMemberHistory.reasonCode
Element IdFamilyMemberHistory.reasonCode
Definition

Describes why the family member history occurred in coded or textual form.

Control0..*
Terminology BindingCodes indicating why the family member history was done.
For example codes, see SNOMED CT Clinical Findings
TypeCodeableConcept
Comments

Textual reasons can be captured using reasonCode.text.

FamilyMemberHistory.reasonReference
Element IdFamilyMemberHistory.reasonReference
Definition

Indicates a Condition, Observation, AllergyIntolerance, or QuestionnaireResponse that justifies this family member history event.

Control0..*
TypeReference(Condition)
FamilyMemberHistory.note
Element IdFamilyMemberHistory.note
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.

Control0..*
TypeAnnotation
FamilyMemberHistory.condition(Condition)
Element IdFamilyMemberHistory.condition:Condition
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.

Control0..*
TypeBackboneElement
Must Supporttrue
Comments

If none of the conditions listed have an outcome of "death" specified, that indicates that none of the specified conditions are known to have been the primary cause of death.

InvariantsDefined on this element
ele-1: All FHIR elements must have a @value or children (xpath: @value|f:*|h:div)
FamilyMemberHistory.condition.id
Element IdFamilyMemberHistory.condition:Condition.id
Definition

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

Control0..1
Typestring
FamilyMemberHistory.condition.extension
Element IdFamilyMemberHistory.condition:Condition.extension
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.

Control0..*
TypeExtension
Alternate Namesextensions, 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.

FamilyMemberHistory.condition.modifierExtension
Element IdFamilyMemberHistory.condition:Condition.modifierExtension
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. 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).

Control0..*
TypeExtension
Is Modifiertrue (Reason: Modifier extensions are expected to modify the meaning or interpretation of the element that contains them)
Alternate Namesextensions, user content, modifiers
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.

FamilyMemberHistory.condition.code
Element IdFamilyMemberHistory.condition:Condition.code
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.

Control1..1
Terminology BindingIdentification of the Condition or diagnosis.
For example codes, see Condition/Problem/Diagnosis Codes
TypeCodeableConcept
Must Supporttrue
FamilyMemberHistory.condition.outcome
Element IdFamilyMemberHistory.condition:Condition.outcome
Definition

Indicates what happened as a result of this condition. If the condition resulted in death, deceased date is captured on the relation.

Control0..1
Terminology BindingThe result of the condition for the patient; e.g. death, permanent disability, temporary disability, etc.
For example codes, see Condition Outcome Codes
TypeCodeableConcept
Must Supporttrue
FamilyMemberHistory.condition.onset[x]
Element IdFamilyMemberHistory.condition:Condition.onset[x]
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.

Control0..1
TypeChoice of: Age, Range, Period, string
[x] NoteSee Choice of Data Types for further information about how to use [x]
Must Supporttrue
Requirements

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

FamilyMemberHistory.condition.note
Element IdFamilyMemberHistory.condition:Condition.note
Definition

An area where general notes can be placed about this specific condition.

Control0..1
TypeAnnotation