NCPI FHIR Implementation Guide v2
0.1.0 - ci-build

NCPI FHIR Implementation Guide v2 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Resource Profile: NcpiStudyFamily - Detailed Descriptions

Draft as of 2024-09-26

Definitions for the ncpi-study-family resource profile.

Guidance on how to interpret the contents of this table can be found here

0. Group
2. Group.id
ShortParticipantID - Unique participant identifier. System identifier used for internal references.
Control1..?
4. Group.extension
SlicingThis element introduces a set of slices on Group.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
  • value @ url
  • 6. Group.extension:family-type
    Slice Namefamily-type
    ShortDescribes the 'type' of study family, eg, trio.
    Control0..1
    TypeExtension(Family Type Extension) (Extension Type: CodeableConcept)
    8. Group.extension:description
    Slice Namedescription
    ShortFree text describing the study family, such as potential inheritance or details about consanguinity
    Control0..1
    TypeExtension(Study Family Description) (Extension Type: markdown)
    10. Group.extension:consanguinity
    Slice Nameconsanguinity
    ShortIs there known or suspected consanguinity in this study family?
    Control0..1
    TypeExtension(Consanguinity Extension) (Extension Type: CodeableConcept)
    12. Group.extension:study-family-focus
    Slice Namestudy-family-focus
    ShortWhat is this study family investigating? EG, a specific condition
    Control0..1
    TypeExtension(Study Family Focus Extension) (Extension Type: CodeableConcept)
    14. Group.identifier
    ShortExternal IDs for this participant. Requires scoping.
    NoteThis is a business identifier, not a resource identifier (see discussion)
    16. Group.member
    Control1..?
    18. Group.member.entity
    ShortThe participant we are describing.
    TypeReference(NCPI Participant)
    20. Group.member.entity.extension:family-role
    Slice Namefamily-role
    ShortThe role this individual has in the family, specifically with respect to a proband or index participant
    Control0..1
    TypeExtension(Study Family Focus) (Extension Type: CodeableConcept)

    Guidance on how to interpret the contents of this table can be found here

    0. Group
    Definition

    Represents a defined collection of entities that may be discussed or acted upon collectively but which are not expected to act collectively, and are not formally or legally recognized; i.e. a collection of entities that isn't an Organization.

    ShortGroup of multiple entities
    Comments

    If both Group.characteristic and Group.member are present, then the members are the individuals who were found who met the characteristic. It's possible that there might be other candidate members who meet the characteristic and aren't (yet) in the list. All members SHALL have the listed characteristics.

    Control0..*
    Is Modifierfalse
    Must Supportfalse
    Summaryfalse
    Invariantsdom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources (contained.contained.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.exists() and ('#'+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(uri) = '#').exists()).not()).trace('unmatched', id).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-5: If a resource is contained in another resource, it SHALL NOT have a security label (contained.meta.security.empty())
    dom-6: A resource should have narrative for robust management (text.`div`.exists())
    grp-1: Can only have members if group is "actual" (member.empty() or (actual = true))
    2. Group.id
    Definition

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

    ShortParticipantID - Unique participant identifier. System identifier used for internal references.Logical id of this artifact
    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.

    Control10..1
    Typeid
    Is Modifierfalse
    Must Supportfalse
    Summarytrue
    4. Group.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.

    ShortA set of rules under which this content was created
    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.

    Control0..1
    Typeuri
    Is Modifiertrue because 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
    Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
    Must Supportfalse
    Summarytrue
    Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
    6. Group.extension
    Definition

    An Extension


    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.

    ShortExtensionAdditional content defined by implementations
    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.

    Control0..*
    TypeExtension
    Is Modifierfalse
    Must Supportfalse
    Summaryfalse
    Alternate Namesextensions, user content
    Invariantsele-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())
    SlicingThis element introduces a set of slices on Group.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
    • value @ url
    • 8. Group.extension:family-type
      Slice Namefamily-type
      Definition

      Extension containing Family Type

      ShortDescribes the 'type' of study family, eg, trio.
      Control0..1
      This element is affected by the following invariants: ele-1
      TypeExtension(Family Type Extension) (Extension Type: CodeableConcept)
      Is Modifierfalse
      Must Supportfalse
      Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
      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())
      10. Group.extension:description
      Slice Namedescription
      Definition

      Free text describing the study family, such as potential inheritance or details about consanguinity

      ShortFree text describing the study family, such as potential inheritance or details about consanguinity
      Control0..1
      This element is affected by the following invariants: ele-1
      TypeExtension(Study Family Description) (Extension Type: markdown)
      Is Modifierfalse
      Must Supportfalse
      Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
      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())
      12. Group.extension:consanguinity
      Slice Nameconsanguinity
      Definition

      Extension containing Consanguinity

      ShortIs there known or suspected consanguinity in this study family?
      Control0..1
      This element is affected by the following invariants: ele-1
      TypeExtension(Consanguinity Extension) (Extension Type: CodeableConcept)
      Is Modifierfalse
      Must Supportfalse
      Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
      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())
      14. Group.extension:study-family-focus
      Slice Namestudy-family-focus
      Definition

      Extension containing Study Family Focus

      ShortWhat is this study family investigating? EG, a specific condition
      Control0..1
      This element is affected by the following invariants: ele-1
      TypeExtension(Study Family Focus Extension) (Extension Type: CodeableConcept)
      Is Modifierfalse
      Must Supportfalse
      Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
      ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
      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())
      16. Group.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 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).

      ShortExtensions that cannot be ignored
      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.

      Control0..*
      TypeExtension
      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them
      Must Supportfalse
      Summaryfalse
      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.

      Alternate Namesextensions, user content
      Invariantsele-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())
      18. Group.identifier
      Definition

      A unique business identifier for this group.

      ShortExternal IDs for this participant. Requires scoping.Unique id
      NoteThis is a business identifier, not a resource identifier (see discussion)
      Control0..*
      TypeIdentifier
      Is Modifierfalse
      Must Supportfalse
      Summarytrue
      Requirements

      Allows the group to be referenced from external specifications.

      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      20. Group.type
      Definition

      Identifies the broad classification of the kind of resources the group includes.

      Shortperson | animal | practitioner | device | medication | substance
      Comments

      Group members SHALL be of the appropriate resource type (Patient for person or animal; or Practitioner, Device, Medication or Substance for the other types.).

      Control1..1
      BindingThe codes SHALL be taken from GroupTypehttp://hl7.org/fhir/ValueSet/group-type|4.3.0
      (required to http://hl7.org/fhir/ValueSet/group-type|4.3.0)

      Types of resources that are part of group.

      Typecode
      Is Modifierfalse
      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
      Must Supportfalse
      Summarytrue
      Requirements

      Identifies what type of resources the group is made up of.

      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      22. Group.actual
      Definition

      If true, indicates that the resource refers to a specific group of real individuals. If false, the group defines a set of intended individuals.

      ShortDescriptive or actual
      Control1..1
      This element is affected by the following invariants: grp-1
      Typeboolean
      Is Modifierfalse
      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
      Must Supportfalse
      Summarytrue
      Requirements

      There are use-cases for groups that define specific collections of individuals, and other groups that define "types" of intended individuals. The requirements for both kinds of groups are similar, so we use a single resource, distinguished by this flag.

      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      24. Group.member
      Definition

      Identifies the resource instances that are members of the group.

      ShortWho or what is in group
      Control10..*
      This element is affected by the following invariants: grp-1
      TypeBackboneElement
      Is Modifierfalse
      Must Supportfalse
      Summaryfalse
      Requirements

      Often the only thing of interest about a group is "who's in it".

      Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
      26. Group.member.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 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).

      ShortExtensions that cannot be ignored even if unrecognized
      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.

      Control0..*
      TypeExtension
      Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
      Summarytrue
      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.

      Alternate Namesextensions, user content, modifiers
      Invariantsele-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())
      28. Group.member.entity
      Definition

      A reference to the entity that is a member of the group. Must be consistent with Group.type. If the entity is another group, then the type must be the same.

      ShortThe participant we are describing.Reference to the group member
      Control1..1
      TypeReference(NCPI Participant, Patient, RelatedPerson, Practitioner, PractitionerRole, Device, Medication, Substance, Group)
      Is Modifierfalse
      Must Supportfalse
      Summaryfalse
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      30. Group.member.entity.extension:family-role
      Slice Namefamily-role
      Definition

      Extension containing Family Role

      ShortThe role this individual has in the family, specifically with respect to a proband or index participant
      Control0..1
      TypeExtension(Study Family Focus) (Extension Type: CodeableConcept)
      Is Modifierfalse
      Summaryfalse
      Invariantsele-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())

      Guidance on how to interpret the contents of this table can be found here

      0. Group
      Definition

      Represents a defined collection of entities that may be discussed or acted upon collectively but which are not expected to act collectively, and are not formally or legally recognized; i.e. a collection of entities that isn't an Organization.

      ShortGroup of multiple entities
      Comments

      If both Group.characteristic and Group.member are present, then the members are the individuals who were found who met the characteristic. It's possible that there might be other candidate members who meet the characteristic and aren't (yet) in the list. All members SHALL have the listed characteristics.

      Control0..*
      Is Modifierfalse
      Must Supportfalse
      Summaryfalse
      Invariantsdom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources (contained.contained.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.exists() and ('#'+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(uri) = '#').exists()).not()).trace('unmatched', id).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-5: If a resource is contained in another resource, it SHALL NOT have a security label (contained.meta.security.empty())
      dom-6: A resource should have narrative for robust management (text.`div`.exists())
      grp-1: Can only have members if group is "actual" (member.empty() or (actual = true))
      2. Group.id
      Definition

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

      ShortParticipantID - Unique participant identifier. System identifier used for internal references.
      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.

      Control1..1
      Typeid
      Is Modifierfalse
      Must Supportfalse
      Summarytrue
      4. Group.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.

      ShortMetadata about the resource
      Control0..1
      TypeMeta
      Is Modifierfalse
      Must Supportfalse
      Summarytrue
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      6. Group.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.

      ShortA set of rules under which this content was created
      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.

      Control0..1
      Typeuri
      Is Modifiertrue because 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
      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
      Must Supportfalse
      Summarytrue
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      8. Group.language
      Definition

      The base language in which the resource is written.

      ShortLanguage of the resource content
      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).

      Control0..1
      BindingThe codes SHOULD be taken from CommonLanguages
      (preferred to http://hl7.org/fhir/ValueSet/languages)

      IETF language tag

      Additional BindingsPurpose
      AllLanguagesMax Binding
      Typecode
      Is Modifierfalse
      Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
      Must Supportfalse
      Summaryfalse
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      10. Group.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.

      ShortText summary of the resource, for human interpretation
      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.

      Control0..1
      TypeNarrative
      Is Modifierfalse
      Must Supportfalse
      Summaryfalse
      Alternate Namesnarrative, html, xhtml, display
      Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
      12. Group.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.

      ShortContained, inline 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.

      Control0..*
      TypeResource
      Is Modifierfalse
      Must Supportfalse
      Summaryfalse
      Alternate Namesinline resources, anonymous resources, contained resources
      Invariantsdom-r4b: Containing new R4B resources within R4 resources may cause interoperability issues if instances are shared with R4 systems (($this is Citation or $this is Evidence or $this is EvidenceReport or $this is EvidenceVariable or $this is MedicinalProductDefinition or $this is PackagedProductDefinition or $this is AdministrableProductDefinition or $this is Ingredient or $this is ClinicalUseDefinition or $this is RegulatedAuthorization or $this is SubstanceDefinition or $this is SubscriptionStatus or $this is SubscriptionTopic) implies (%resource is Citation or %resource is Evidence or %resource is EvidenceReport or %resource is EvidenceVariable or %resource is MedicinalProductDefinition or %resource is PackagedProductDefinition or %resource is AdministrableProductDefinition or %resource is Ingredient or %resource is ClinicalUseDefinition or %resource is RegulatedAuthorization or %resource is SubstanceDefinition or %resource is SubscriptionStatus or %resource is SubscriptionTopic))
      14. Group.extension
      Definition

      An Extension

      ShortExtension
      Control0..*
      TypeExtension
      Is Modifierfalse
      Must Supportfalse
      Summaryfalse
      Invariantsele-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())
      SlicingThis element introduces a set of slices on Group.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
      • value @ url
      • 16. Group.extension:family-type
        Slice Namefamily-type
        Definition

        Extension containing Family Type

        ShortDescribes the 'type' of study family, eg, trio.
        Control0..1
        This element is affected by the following invariants: ele-1
        TypeExtension(Family Type Extension) (Extension Type: CodeableConcept)
        Is Modifierfalse
        Must Supportfalse
        Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        18. Group.extension:description
        Slice Namedescription
        Definition

        Free text describing the study family, such as potential inheritance or details about consanguinity

        ShortFree text describing the study family, such as potential inheritance or details about consanguinity
        Control0..1
        This element is affected by the following invariants: ele-1
        TypeExtension(Study Family Description) (Extension Type: markdown)
        Is Modifierfalse
        Must Supportfalse
        Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        20. Group.extension:consanguinity
        Slice Nameconsanguinity
        Definition

        Extension containing Consanguinity

        ShortIs there known or suspected consanguinity in this study family?
        Control0..1
        This element is affected by the following invariants: ele-1
        TypeExtension(Consanguinity Extension) (Extension Type: CodeableConcept)
        Is Modifierfalse
        Must Supportfalse
        Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        22. Group.extension:study-family-focus
        Slice Namestudy-family-focus
        Definition

        Extension containing Study Family Focus

        ShortWhat is this study family investigating? EG, a specific condition
        Control0..1
        This element is affected by the following invariants: ele-1
        TypeExtension(Study Family Focus Extension) (Extension Type: CodeableConcept)
        Is Modifierfalse
        Must Supportfalse
        Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
        ext-1: Must have either extensions or value[x], not both (extension.exists() != value.exists())
        24. Group.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 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).

        ShortExtensions that cannot be ignored
        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.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them
        Must Supportfalse
        Summaryfalse
        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.

        Alternate Namesextensions, user content
        Invariantsele-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())
        26. Group.identifier
        Definition

        A unique business identifier for this group.

        ShortExternal IDs for this participant. Requires scoping.
        NoteThis is a business identifier, not a resource identifier (see discussion)
        Control0..*
        TypeIdentifier
        Is Modifierfalse
        Must Supportfalse
        Summarytrue
        Requirements

        Allows the group to be referenced from external specifications.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        28. Group.active
        Definition

        Indicates whether the record for the group is available for use or is merely being retained for historical purposes.

        ShortWhether this group's record is in active use
        Control0..1
        Typeboolean
        Is Modifierfalse
        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
        Must Supportfalse
        Summarytrue
        Requirements

        Need to be able to mark a group record as not to be used because it was created in error or is otherwise no longer available (e.g. a herd that no longer exists).

        Meaning if MissingThis resource is generally assumed to be active if no value is provided for the active element
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        30. Group.type
        Definition

        Identifies the broad classification of the kind of resources the group includes.

        Shortperson | animal | practitioner | device | medication | substance
        Comments

        Group members SHALL be of the appropriate resource type (Patient for person or animal; or Practitioner, Device, Medication or Substance for the other types.).

        Control1..1
        BindingThe codes SHALL be taken from GroupType
        (required to http://hl7.org/fhir/ValueSet/group-type|4.3.0)

        Types of resources that are part of group.

        Typecode
        Is Modifierfalse
        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
        Must Supportfalse
        Summarytrue
        Requirements

        Identifies what type of resources the group is made up of.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        32. Group.actual
        Definition

        If true, indicates that the resource refers to a specific group of real individuals. If false, the group defines a set of intended individuals.

        ShortDescriptive or actual
        Control1..1
        This element is affected by the following invariants: grp-1
        Typeboolean
        Is Modifierfalse
        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
        Must Supportfalse
        Summarytrue
        Requirements

        There are use-cases for groups that define specific collections of individuals, and other groups that define "types" of intended individuals. The requirements for both kinds of groups are similar, so we use a single resource, distinguished by this flag.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        34. Group.code
        Definition

        Provides a specific type of resource the group includes; e.g. "cow", "syringe", etc.

        ShortKind of Group members
        Comments

        This would generally be omitted for Person resources.

        Control0..1
        Binding

        Kind of particular resource; e.g. cow, syringe, lake, etc.

        TypeCodeableConcept
        Is Modifierfalse
        Must Supportfalse
        Summarytrue
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        36. Group.name
        Definition

        A label assigned to the group for human identification and communication.

        ShortLabel for Group
        Control0..1
        Typestring
        Is Modifierfalse
        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
        Must Supportfalse
        Summarytrue
        Requirements

        Used to identify the group in human communication.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        38. Group.quantity
        Definition

        A count of the number of resource instances that are part of the group.

        ShortNumber of members
        Comments

        Note that the quantity may be less than the number of members if some of the members are not active.

        Control0..1
        TypeunsignedInt
        Is Modifierfalse
        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
        Must Supportfalse
        Summarytrue
        Requirements

        Group size is a common defining characteristic.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        40. Group.managingEntity
        Definition

        Entity responsible for defining and maintaining Group characteristics and/or registered members.

        ShortEntity that is the custodian of the Group's definition
        Comments

        This does not strictly align with ownership of a herd or flock, but may suffice to represent that relationship in simple cases. More complex cases will require an extension.

        Control0..1
        TypeReference(Organization, RelatedPerson, Practitioner, PractitionerRole)
        Is Modifierfalse
        Must Supportfalse
        Summarytrue
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        42. Group.characteristic
        Definition

        Identifies traits whose presence r absence is shared by members of the group.

        ShortInclude / Exclude group members by Trait
        Comments

        All the identified characteristics must be true for an entity to a member of the group.

        Control0..*
        TypeBackboneElement
        Is Modifierfalse
        Must Supportfalse
        Summaryfalse
        Requirements

        Needs to be a generic mechanism for identifying what individuals can be part of a group.

        Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
        44. Group.characteristic.id
        Definition

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

        ShortUnique id for inter-element referencing
        Control0..1
        Typestring
        Is Modifierfalse
        XML FormatIn the XML format, this property is represented as an attribute.
        Summaryfalse
        46. Group.characteristic.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.

        ShortAdditional content defined by implementations
        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.

        Control0..*
        TypeExtension
        Is Modifierfalse
        Summaryfalse
        Alternate Namesextensions, user content
        Invariantsele-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())
        48. Group.characteristic.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 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).

        ShortExtensions that cannot be ignored even if unrecognized
        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.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        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.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-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())
        50. Group.characteristic.code
        Definition

        A code that identifies the kind of trait being asserted.

        ShortKind of characteristic
        Control1..1
        Binding

        List of characteristics used to describe group members; e.g. gender, age, owner, location, etc.

        TypeCodeableConcept
        Is Modifierfalse
        Must Supportfalse
        Summaryfalse
        Requirements

        Need a formal way of identifying the characteristic being described.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        52. Group.characteristic.value[x]
        Definition

        The value of the trait that holds (or does not hold - see 'exclude') for members of the group.

        ShortValue held by characteristic
        Comments

        For Range, it means members of the group have a value that falls somewhere within the specified range.

        Control1..1
        Binding

        Value of descriptive member characteristic; e.g. red, male, pneumonia, Caucasian, etc.

        TypeChoice of: CodeableConcept, boolean, Quantity, Range, Reference
        [x] NoteSeeChoice of Data Typesfor further information about how to use [x]
        Is Modifierfalse
        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
        Must Supportfalse
        Summaryfalse
        Requirements

        The value of the characteristic is what determines group membership.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        54. Group.characteristic.exclude
        Definition

        If true, indicates the characteristic is one that is NOT held by members of the group.

        ShortGroup includes or excludes
        Comments

        This is labeled as "Is Modifier" because applications cannot wrongly include excluded members as included or vice versa.

        Control1..1
        Typeboolean
        Is Modifierfalse
        Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
        Must Supportfalse
        Summaryfalse
        Requirements

        Sometimes group membership is determined by characteristics not possessed.

        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        56. Group.characteristic.period
        Definition

        The period over which the characteristic is tested; e.g. the patient had an operation during the month of June.

        ShortPeriod over which characteristic is tested
        Control0..1
        TypePeriod
        Is Modifierfalse
        Must Supportfalse
        Summaryfalse
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        58. Group.member
        Definition

        Identifies the resource instances that are members of the group.

        ShortWho or what is in group
        Control1..*
        This element is affected by the following invariants: grp-1
        TypeBackboneElement
        Is Modifierfalse
        Must Supportfalse
        Summaryfalse
        Requirements

        Often the only thing of interest about a group is "who's in it".

        Invariantsele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (hasValue() or (children().count() > id.count()) or $this is Parameters)
        60. Group.member.id
        Definition

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

        ShortUnique id for inter-element referencing
        Control0..1
        Typestring
        Is Modifierfalse
        XML FormatIn the XML format, this property is represented as an attribute.
        Summaryfalse
        62. Group.member.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.

        ShortAdditional content defined by implementations
        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.

        Control0..*
        TypeExtension
        Is Modifierfalse
        Summaryfalse
        Alternate Namesextensions, user content
        Invariantsele-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())
        64. Group.member.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 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).

        ShortExtensions that cannot be ignored even if unrecognized
        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.

        Control0..*
        TypeExtension
        Is Modifiertrue because Modifier extensions are expected to modify the meaning or interpretation of the element that contains them
        Summarytrue
        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.

        Alternate Namesextensions, user content, modifiers
        Invariantsele-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())
        66. Group.member.entity
        Definition

        A reference to the entity that is a member of the group. Must be consistent with Group.type. If the entity is another group, then the type must be the same.

        ShortThe participant we are describing.
        Control1..1
        TypeReference(NCPI Participant)
        Is Modifierfalse
        Must Supportfalse
        Summaryfalse
        Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
        68. Group.member.entity.id
        Definition

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

        ShortUnique id for inter-element referencing
        Control0..1
        Typeid
        Is Modifierfalse
        XML FormatIn the XML format, this property is represented as an attribute.
        Summaryfalse
        70. Group.member.entity.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.

        ShortAdditional content defined by implementations
        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.

        Control0..*
        TypeExtension
        Is Modifierfalse
        Summaryfalse
        Alternate Namesextensions, user content
        Invariantsele-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())
        SlicingThis element introduces a set of slices on Group.member.entity.extension. The slices areUnordered and Open, and can be differentiated using the following discriminators:
        • value @ url
        • 72. Group.member.entity.extension:family-role
          Slice Namefamily-role
          Definition

          Extension containing Family Role

          ShortThe role this individual has in the family, specifically with respect to a proband or index participant
          Control0..1
          TypeExtension(Study Family Focus) (Extension Type: CodeableConcept)
          Is Modifierfalse
          Summaryfalse
          Invariantsele-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())
          74. Group.member.entity.reference
          Definition

          A reference to a location at which the other resource is found. The reference may be a relative reference, in which case it is relative to the service base URL, or an absolute URL that resolves to the location where the resource is found. The reference may be version specific or not. If the reference is not to a FHIR RESTful server, then it should be assumed to be version specific. Internal fragment references (start with '#') refer to contained resources.

          ShortLiteral reference, Relative, internal or absolute URL
          Comments

          Using absolute URLs provides a stable scalable approach suitable for a cloud/web context, while using relative/logical references provides a flexible approach suitable for use when trading across closed eco-system boundaries. Absolute URLs do not need to point to a FHIR RESTful server, though this is the preferred approach. If the URL conforms to the structure "/[type]/[id]" then it should be assumed that the reference is to a FHIR RESTful server.

          Control0..1
          This element is affected by the following invariants: ref-1
          Typestring
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Summarytrue
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          76. Group.member.entity.type
          Definition

          The expected type of the target of the reference. If both Reference.type and Reference.reference are populated and Reference.reference is a FHIR URL, both SHALL be consistent.

          The type is the Canonical URL of Resource Definition that is the type this reference refers to. References are URLs that are relative to http://hl7.org/fhir/StructureDefinition/ e.g. "Patient" is a reference to http://hl7.org/fhir/StructureDefinition/Patient. Absolute URLs are only allowed for logical models (and can only be used in references in logical models, not resources).

          ShortType the reference refers to (e.g. "Patient")
          Comments

          This element is used to indicate the type of the target of the reference. This may be used which ever of the other elements are populated (or not). In some cases, the type of the target may be determined by inspection of the reference (e.g. a RESTful URL) or by resolving the target of the reference; if both the type and a reference is provided, the reference SHALL resolve to a resource of the same type as that specified.

          Control0..1
          BindingUnless not suitable, these codes SHALL be taken from ResourceType
          (extensible to http://hl7.org/fhir/ValueSet/resource-types)
          Typeuri
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Summarytrue
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          78. Group.member.entity.identifier
          Definition

          An identifier for the target resource. This is used when there is no way to reference the other resource directly, either because the entity it represents is not available through a FHIR server, or because there is no way for the author of the resource to convert a known identifier to an actual location. There is no requirement that a Reference.identifier point to something that is actually exposed as a FHIR instance, but it SHALL point to a business concept that would be expected to be exposed as a FHIR instance, and that instance would need to be of a FHIR resource type allowed by the reference.

          ShortLogical reference, when literal reference is not known
          Comments

          When an identifier is provided in place of a reference, any system processing the reference will only be able to resolve the identifier to a reference if it understands the business context in which the identifier is used. Sometimes this is global (e.g. a national identifier) but often it is not. For this reason, none of the useful mechanisms described for working with references (e.g. chaining, includes) are possible, nor should servers be expected to be able resolve the reference. Servers may accept an identifier based reference untouched, resolve it, and/or reject it - see CapabilityStatement.rest.resource.referencePolicy.

          When both an identifier and a literal reference are provided, the literal reference is preferred. Applications processing the resource are allowed - but not required - to check that the identifier matches the literal reference

          Applications converting a logical reference to a literal reference may choose to leave the logical reference present, or remove it.

          Reference is intended to point to a structure that can potentially be expressed as a FHIR resource, though there is no need for it to exist as an actual FHIR resource instance - except in as much as an application wishes to actual find the target of the reference. The content referred to be the identifier must meet the logical constraints implied by any limitations on what resource types are permitted for the reference. For example, it would not be legitimate to send the identifier for a drug prescription if the type were Reference(Observation|DiagnosticReport). One of the use-cases for Reference.identifier is the situation where no FHIR representation exists (where the type is Reference (Any).

          NoteThis is a business identifier, not a resource identifier (see discussion)
          Control0..1
          TypeIdentifier
          Is Modifierfalse
          Summarytrue
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          80. Group.member.entity.display
          Definition

          Plain text narrative that identifies the resource in addition to the resource reference.

          ShortText alternative for the resource
          Comments

          This is generally not the same as the Resource.text of the referenced resource. The purpose is to identify what's being referenced, not to fully describe it.

          Control0..1
          Typestring
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Summarytrue
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          82. Group.member.period
          Definition

          The period that the member was in the group, if known.

          ShortPeriod member belonged to the group
          Control0..1
          TypePeriod
          Is Modifierfalse
          Must Supportfalse
          Summaryfalse
          Requirements

          Need to track who was in a group at a particular time.

          Meaning if MissingThe member is in the group at this time
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))
          84. Group.member.inactive
          Definition

          A flag to indicate that the member is no longer in the group, but previously may have been a member.

          ShortIf member is no longer in group
          Control0..1
          Typeboolean
          Is Modifierfalse
          Primitive ValueThis primitive element may be present, or absent, or replaced by an extension
          Must Supportfalse
          Summaryfalse
          Requirements

          Sometimes you don't know when someone stopped being in a group, but not when.

          Meaning if MissingMembers are considered active unless explicitly specified otherwise
          Invariantsele-1: All FHIR elements must have a @value or children (hasValue() or (children().count() > id.count()))