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: NCPI Study Family
| Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/ncpi-study-family | Version: 0.1.0 | |||
| Draft as of 2025-03-24 | 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.
Recommended Practices
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 |
Usage:
- Examples for this Resource Profile: Group/cbtn-study-family and Group/gregor-study-family
Formal Views of Profile Content
Description of Profiles, Differentials, Snapshots and how the different presentations work.
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
  Group |
C | 0..* | Group | Group of multiple entities dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources 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 dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-5: If a resource is contained in another resource, it SHALL NOT have a security label dom-6: A resource should have narrative for robust management grp-1: Can only have members if group is "actual" |
  id |
Σ | 1..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 ele-1: All FHIR elements must have a @value or children |
  Slices for extension |
0..* | Extension | Extension Slice: Unordered, Open by value:url ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
   extension:family-type |
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) ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource ext-1: Must have either extensions or value[x], not both | |
| 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 ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource ext-1: Must have either extensions or value[x], not both | |
| 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) ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource ext-1: Must have either extensions or value[x], not both | |
 extension:study-family-focus |
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 ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource ext-1: Must have either extensions or value[x], not both | |
 modifierExtension |
?! | 0..* | Extension | Extensions that cannot be ignored ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
 identifier |
Σ | 0..* | Identifier | External IDs for this participant. Requires scoping. ele-1: All FHIR elements must have a @value or children |
| type |
Σ | 1..1 | code | person | animal | practitioner | device | medication | substance Binding: GroupType (required): Types of resources that are part of group. ele-1: All FHIR elements must have a @value or children |
| actual |
ΣC | 1..1 | boolean | Descriptive or actual ele-1: All FHIR elements must have a @value or children |
 member |
C | 1..* | BackboneElement | Who or what is in group ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource |
 modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both |
 entity |
1..1 | Reference(NCPI Participant) | The participant we are describing. ele-1: All FHIR elements must have a @value or children | |
 Slices for extension |
Content/Rules for all slices | |||
| extension:family-role |
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 (extensible) ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both | |
| Documentation for this format | ||||
Terminology Bindings
| Path | Conformance | ValueSet | URI |
| Group.type | required | GroupTypehttp://hl7.org/fhir/ValueSet/group-type|4.3.0from the FHIR Standard |
Constraints
| Id | Grade | Path(s) | Details | Requirements |
| 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.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 | 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