NCPI FHIR Implementation Guide v2
0.2.0 - ci-build

NCPI FHIR Implementation Guide v2 - Local Development build (v0.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Resource Profile: NCPI Study Family

Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/ncpi-study-family Version: 0.2.0
Draft as of 2025-12-03 Computable Name: NcpiStudyFamily

Study Family

Key Guidelines

Study Family describes a group of Participants that are related. This is not an expression of all individuals in a “family”, but a tool to identify “family members of interest” that were studied. For example, a family trio in a rare disease study does not exclude the existence of other siblings. Family Studies do not require much detail, but there are often attributes of those families that may be of use to researchers.

Added Profile Restrictions

In order to ensure that our resources are interoperable across studies, we have employed a number of restrictions that should make consuming Patient resources more consistent.

  • ID should be a globally unique identifier associated with the family.

TODO: Write Recommended Practices

FHIR Mappings

The following fields from the shared data model are to be mapped into the NCPI Participant as shown below:

Logical Model Property Cardinality NCPI Study Family Mapping Usage Guidance Notes
FamilyID 1..1 id Required It is strongly recommended for the Person ID to be a unique identifier with an appropriate system
externalID 0..* identifier    
FamilyType 0..1 extension FamilyType    
Description 0..1 extension Description    
Consanguinity 0..1 extension Consanguinity    
StudyFamilyFocus 0..1 extension StudyFamilyFocus    

Usages:

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots and how the different presentations work.

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Group C 0..* Group Group of multiple entities
Constraints: grp-1
... id Σ 0..1 id ParticipantID - Unique participant identifier. System identifier used for internal references.
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:familyType 0..1 CodeableConcept Describes the 'type' of study family, eg, trio.
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-type
Binding: Family Types Codes (extensible)
.... extension:description 0..1 markdown Free text describing the study family, such as potential inheritance or details about consanguinity
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/description
.... extension:consanguinity 0..1 CodeableConcept Is there known or suspected consanguinity in this study family?
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/consanguinity
Binding: Consanguinity Value Codes (extensible)
.... extension:studyFamilyFocus 0..1 CodeableConcept What is this study family investigating? EG, a specific condition
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/study-family-focus
... identifier Σ 0..* Identifier External IDs for this participant. Requires scoping.
... type Σ 1..1 code person | animal | practitioner | device | medication | substance
Binding: GroupType (required): Types of resources that are part of group.
... actual ΣC 1..1 boolean Descriptive or actual
... member C 1..* BackboneElement Who or what is in group
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... entity 1..1 Reference(NCPI Participant) The participant described by this member.
..... Slices for extension Content/Rules for all slices
...... extension:familyRole 0..1 CodeableConcept The role this individual has in the family, specifically with respect to a proband or index participant
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-role
Binding: FamilyMember (3.0.0) (extensible)

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Group.type Base required GroupType 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Group If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Group 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-4 error Group 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 error Group If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Group A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
grp-1 error Group Can only have members if group is "actual" member.empty() or (actual = true)

This structure is derived from Group

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Group 0..* Group Group of multiple entities
... id 0..1 id ParticipantID - Unique participant identifier. System identifier used for internal references.
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:familyType 0..1 CodeableConcept Describes the 'type' of study family, eg, trio.
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-type
Binding: Family Types Codes (extensible)
.... extension:description 0..1 markdown Free text describing the study family, such as potential inheritance or details about consanguinity
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/description
.... extension:consanguinity 0..1 CodeableConcept Is there known or suspected consanguinity in this study family?
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/consanguinity
Binding: Consanguinity Value Codes (extensible)
.... extension:studyFamilyFocus 0..1 CodeableConcept What is this study family investigating? EG, a specific condition
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/study-family-focus
... identifier 0..* Identifier External IDs for this participant. Requires scoping.
.... entity 1..1 Reference(NCPI Participant) The participant described by this member.
..... Slices for extension Content/Rules for all slices
...... extension:familyRole 0..1 CodeableConcept The role this individual has in the family, specifically with respect to a proband or index participant
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-role
Binding: FamilyMember (3.0.0) (extensible)

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Group C 0..* Group Group of multiple entities
Constraints: grp-1
... id Σ 0..1 id ParticipantID - Unique participant identifier. System identifier used for internal references.
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:familyType 0..1 CodeableConcept Describes the 'type' of study family, eg, trio.
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-type
Binding: Family Types Codes (extensible)
.... extension:description 0..1 markdown Free text describing the study family, such as potential inheritance or details about consanguinity
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/description
.... extension:consanguinity 0..1 CodeableConcept Is there known or suspected consanguinity in this study family?
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/consanguinity
Binding: Consanguinity Value Codes (extensible)
.... extension:studyFamilyFocus 0..1 CodeableConcept What is this study family investigating? EG, a specific condition
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/study-family-focus
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier External IDs for this participant. Requires scoping.
... active Σ 0..1 boolean Whether this group's record is in active use
... type Σ 1..1 code person | animal | practitioner | device | medication | substance
Binding: GroupType (required): Types of resources that are part of group.
... actual ΣC 1..1 boolean Descriptive or actual
... code Σ 0..1 CodeableConcept Kind of Group members
Binding Description: (example): Kind of particular resource; e.g. cow, syringe, lake, etc.
... name Σ 0..1 string Label for Group
... quantity Σ 0..1 unsignedInt Number of members
... managingEntity Σ 0..1 Reference(Organization | RelatedPerson | Practitioner | PractitionerRole) Entity that is the custodian of the Group's definition
... characteristic 0..* BackboneElement Include / Exclude group members by Trait
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... code 1..1 CodeableConcept Kind of characteristic
Binding Description: (example): List of characteristics used to describe group members; e.g. gender, age, owner, location, etc.
.... value[x] 1..1 Value held by characteristic
Binding Description: (example): Value of descriptive member characteristic; e.g. red, male, pneumonia, Caucasian, etc.
..... valueCodeableConcept CodeableConcept
..... valueBoolean boolean
..... valueQuantity Quantity
..... valueRange Range
..... valueReference Reference(Any)
.... exclude 1..1 boolean Group includes or excludes
.... period 0..1 Period Period over which characteristic is tested
... member C 1..* BackboneElement Who or what is in group
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... entity 1..1 Reference(NCPI Participant) The participant described by this member.
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... extension:familyRole 0..1 CodeableConcept The role this individual has in the family, specifically with respect to a proband or index participant
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-role
Binding: FamilyMember (3.0.0) (extensible)
..... reference ΣC 0..1 string Literal reference, Relative, internal or absolute URL
..... type Σ 0..1 uri Type the reference refers to (e.g. "Patient")
Binding: ResourceType (extensible): Aa resource (or, for logical models, the URI of the logical model).
..... identifier Σ 0..1 Identifier Logical reference, when literal reference is not known
..... display Σ 0..1 string Text alternative for the resource
.... period 0..1 Period Period member belonged to the group
.... inactive 0..1 boolean If member is no longer in group

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Group.language Base preferred Common Languages 📍4.0.1 FHIR Std.
Group.type Base required GroupType 📍4.0.1 FHIR Std.
Group.code Base example Not State Unknown
Group.characteristic.​code Base example Not State Unknown
Group.characteristic.​value[x] Base example Not State Unknown
Group.member.entity.​type Base extensible ResourceType 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Group If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Group 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-4 error Group 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 error Group If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Group A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
grp-1 error Group Can only have members if group is "actual" member.empty() or (actual = true)

Key Elements View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Group C 0..* Group Group of multiple entities
Constraints: grp-1
... id Σ 0..1 id ParticipantID - Unique participant identifier. System identifier used for internal references.
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:familyType 0..1 CodeableConcept Describes the 'type' of study family, eg, trio.
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-type
Binding: Family Types Codes (extensible)
.... extension:description 0..1 markdown Free text describing the study family, such as potential inheritance or details about consanguinity
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/description
.... extension:consanguinity 0..1 CodeableConcept Is there known or suspected consanguinity in this study family?
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/consanguinity
Binding: Consanguinity Value Codes (extensible)
.... extension:studyFamilyFocus 0..1 CodeableConcept What is this study family investigating? EG, a specific condition
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/study-family-focus
... identifier Σ 0..* Identifier External IDs for this participant. Requires scoping.
... type Σ 1..1 code person | animal | practitioner | device | medication | substance
Binding: GroupType (required): Types of resources that are part of group.
... actual ΣC 1..1 boolean Descriptive or actual
... member C 1..* BackboneElement Who or what is in group
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... entity 1..1 Reference(NCPI Participant) The participant described by this member.
..... Slices for extension Content/Rules for all slices
...... extension:familyRole 0..1 CodeableConcept The role this individual has in the family, specifically with respect to a proband or index participant
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-role
Binding: FamilyMember (3.0.0) (extensible)

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Group.type Base required GroupType 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Group If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Group 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-4 error Group 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 error Group If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Group A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
grp-1 error Group Can only have members if group is "actual" member.empty() or (actual = true)

Differential View

This structure is derived from Group

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Group 0..* Group Group of multiple entities
... id 0..1 id ParticipantID - Unique participant identifier. System identifier used for internal references.
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:familyType 0..1 CodeableConcept Describes the 'type' of study family, eg, trio.
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-type
Binding: Family Types Codes (extensible)
.... extension:description 0..1 markdown Free text describing the study family, such as potential inheritance or details about consanguinity
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/description
.... extension:consanguinity 0..1 CodeableConcept Is there known or suspected consanguinity in this study family?
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/consanguinity
Binding: Consanguinity Value Codes (extensible)
.... extension:studyFamilyFocus 0..1 CodeableConcept What is this study family investigating? EG, a specific condition
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/study-family-focus
... identifier 0..* Identifier External IDs for this participant. Requires scoping.
.... entity 1..1 Reference(NCPI Participant) The participant described by this member.
..... Slices for extension Content/Rules for all slices
...... extension:familyRole 0..1 CodeableConcept The role this individual has in the family, specifically with respect to a proband or index participant
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-role
Binding: FamilyMember (3.0.0) (extensible)

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Group C 0..* Group Group of multiple entities
Constraints: grp-1
... id Σ 0..1 id ParticipantID - Unique participant identifier. System identifier used for internal references.
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:familyType 0..1 CodeableConcept Describes the 'type' of study family, eg, trio.
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-type
Binding: Family Types Codes (extensible)
.... extension:description 0..1 markdown Free text describing the study family, such as potential inheritance or details about consanguinity
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/description
.... extension:consanguinity 0..1 CodeableConcept Is there known or suspected consanguinity in this study family?
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/consanguinity
Binding: Consanguinity Value Codes (extensible)
.... extension:studyFamilyFocus 0..1 CodeableConcept What is this study family investigating? EG, a specific condition
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/study-family-focus
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier External IDs for this participant. Requires scoping.
... active Σ 0..1 boolean Whether this group's record is in active use
... type Σ 1..1 code person | animal | practitioner | device | medication | substance
Binding: GroupType (required): Types of resources that are part of group.
... actual ΣC 1..1 boolean Descriptive or actual
... code Σ 0..1 CodeableConcept Kind of Group members
Binding Description: (example): Kind of particular resource; e.g. cow, syringe, lake, etc.
... name Σ 0..1 string Label for Group
... quantity Σ 0..1 unsignedInt Number of members
... managingEntity Σ 0..1 Reference(Organization | RelatedPerson | Practitioner | PractitionerRole) Entity that is the custodian of the Group's definition
... characteristic 0..* BackboneElement Include / Exclude group members by Trait
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... code 1..1 CodeableConcept Kind of characteristic
Binding Description: (example): List of characteristics used to describe group members; e.g. gender, age, owner, location, etc.
.... value[x] 1..1 Value held by characteristic
Binding Description: (example): Value of descriptive member characteristic; e.g. red, male, pneumonia, Caucasian, etc.
..... valueCodeableConcept CodeableConcept
..... valueBoolean boolean
..... valueQuantity Quantity
..... valueRange Range
..... valueReference Reference(Any)
.... exclude 1..1 boolean Group includes or excludes
.... period 0..1 Period Period over which characteristic is tested
... member C 1..* BackboneElement Who or what is in group
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... entity 1..1 Reference(NCPI Participant) The participant described by this member.
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... extension:familyRole 0..1 CodeableConcept The role this individual has in the family, specifically with respect to a proband or index participant
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/family-role
Binding: FamilyMember (3.0.0) (extensible)
..... reference ΣC 0..1 string Literal reference, Relative, internal or absolute URL
..... type Σ 0..1 uri Type the reference refers to (e.g. "Patient")
Binding: ResourceType (extensible): Aa resource (or, for logical models, the URI of the logical model).
..... identifier Σ 0..1 Identifier Logical reference, when literal reference is not known
..... display Σ 0..1 string Text alternative for the resource
.... period 0..1 Period Period member belonged to the group
.... inactive 0..1 boolean If member is no longer in group

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Group.language Base preferred Common Languages 📍4.0.1 FHIR Std.
Group.type Base required GroupType 📍4.0.1 FHIR Std.
Group.code Base example Not State Unknown
Group.characteristic.​code Base example Not State Unknown
Group.characteristic.​value[x] Base example Not State Unknown
Group.member.entity.​type Base extensible ResourceType 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Group If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Group 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-4 error Group 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 error Group If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Group A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()
grp-1 error Group Can only have members if group is "actual" member.empty() or (actual = true)

 

Other representations of profile: CSV, Excel, Schematron

Notes: