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: Family Relationship
| Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/ncpi-family-relationship | Version: 0.1.0 | |||
| Draft as of 2025-03-24 | Computable Name: NcpiFamilyRelationship | |||
Family Relationship
Key Guidelines
Family Relationships describe the relationship between two Participants. The core use case is to present biological parentage of a participant to support family / pedigree analyses. In this spirit, platforms should seek to provide minimally the information in a “ped” file: if known, a Participant should have a Family Relationship to their biological mother and father. Twins are also a high priority item for reporting. Further extended relationships can be made available using Family Relationship, but may not be as widely supported as they are harder to interpret.
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 person. This practice is intended to make constructing queries for the same person compatible across different servers (such as QA vs PROD) but also to make the resource URLs more meaningful.
Recommended Practices
Family relationship profiles can be constructed for each individual to reflect the different directions of relationships. For example, if we have a mother and son enrolled in a given research study, NCPI Family Relationship can be used to define how mother (subject) relates to son (focus) and what kind of code describes their relationship (relationship), in this case, the code "MTH" for mother. Use of multiple NCPI Family Relationship profiles to define relevant parties will as a whole describe interrelationships.
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 Person Mapping | Usage Guidance | Notes |
| subject | 1..1 | subject | Required | |
| target | 1..1 | focus | ||
| relationship | 1..1 | code |
Usage:
- Examples for this Resource Profile: Observation/cbtn-family-relationship-mother, Observation/cbtn-family-relationship-son and Observation/gregor-family-relationship-mother
Formal Views of Profile Content
Description of Profiles, Differentials, Snapshots and how the different presentations work.
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
  Observation |
C | 0..* | Observation | Measurements and simple assertions 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 obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present |
  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 |
 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 |
| status |
?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. ele-1: All FHIR elements must have a @value or children |
 code |
Σ | 1..1 | CodeableConcept | The relationship between the subject and the target. Binding: FamilyMember (extensible) ele-1: All FHIR elements must have a @value or children |
 subject |
Σ | 1..1 | Reference(NCPI Participant) | The participant we are describing ele-1: All FHIR elements must have a @value or children |
 focus |
Σ | 1..1 | Reference(NCPI Participant) | The participant the subject has a relationship to, eg, 'Subject is Relationship to Target' or 'Subject is Mother of Target' ele-1: All FHIR elements must have a @value or children |
| Documentation for this format | ||||
Terminology Bindings
| Path | Conformance | ValueSet | URI |
| Observation.status | required | ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.3.0from the FHIR Standard | |
| Observation.code | extensible | FamilyMemberhttp://terminology.hl7.org/ValueSet/v3-FamilyMember |
Constraints
| Id | Grade | Path(s) | Details | Requirements |
| dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
| dom-3 | error | Observation | 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 | Observation | 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 | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
| dom-6 | best practice | Observation | 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() | |
| obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
| obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty() |
Other representations of profile: CSV, Excel, Schematron