GA4GH Pedigree FHIR Implementation Guide - Local Development build (v0.1.0). See the Directory of published versions
Resource Profile: Pedigree Relationship
| Official URL: http://purl.org/ga4gh/pedigree-fhir-ig/StructureDefinition/PedigreeRelationship | Version: 0.1.0 | |||
| Active as of 2022-04-22 | Computable Name: PedigreeRelationship | |||
Copyright/Legal: Global Alliance for Genomics and Health |
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Represents a relationship between individuals in a pedigree.
Usage:
- Refer to this Resource Profile:
- Examples for this Resource Profile: FamilyMemberHistory/BartHomerRelationship, FamilyMemberHistory/BartMargeRelationship, FamilyMemberHistory/HomerAbeRelationship, FamilyMemberHistory/MargeHomerRelationship, FamilyMemberHistory/ProbandFatherRelationship, FamilyMemberHistory/ProbandMotherRelationship, FamilyMemberHistory/pedigree-1-relationship-example-1, FamilyMemberHistory/pedigree-1-relationship-example-10, FamilyMemberHistory/pedigree-1-relationship-example-11, FamilyMemberHistory/pedigree-1-relationship-example-12, FamilyMemberHistory/pedigree-1-relationship-example-13, FamilyMemberHistory/pedigree-1-relationship-example-14, FamilyMemberHistory/pedigree-1-relationship-example-15, FamilyMemberHistory/pedigree-1-relationship-example-16, FamilyMemberHistory/pedigree-1-relationship-example-2, FamilyMemberHistory/pedigree-1-relationship-example-3, FamilyMemberHistory/pedigree-1-relationship-example-4, FamilyMemberHistory/pedigree-1-relationship-example-5, FamilyMemberHistory/pedigree-1-relationship-example-6, FamilyMemberHistory/pedigree-1-relationship-example-7, FamilyMemberHistory/pedigree-1-relationship-example-8, FamilyMemberHistory/pedigree-1-relationship-example-9
Formal Views of Profile Content
Description of Profiles, Differentials, Snapshots and how the different presentations work.
This structure is derived from FamilyMemberHistory
This structure is derived from FamilyMemberHistory
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
  FamilyMemberHistory | 0..* | FamilyMemberHistory | Information about patient's relatives, relevant for patient | |
  Slices for extension | 1..* | Extension | Extension Slice: Unordered, Open by value:url | |
 familymemberhistory-patient-record | S | 1..1 | Reference(Patient) | Link to patient record URL: http://hl7.org/fhir/StructureDefinition/familymemberhistory-patient-record |
 patient | S | 1..1 | Reference(Patient) | Patient history is about |
| name | 0..0 | |||
| relationship | S | 1..1 | CodeableConcept | Relationship to the subject Binding: Pedigree Relationship Types (required) |
| sex | 0..0 | |||
| born[x] | 0..0 | |||
| age[x] | 0..0 | |||
| estimatedAge | 0..0 | |||
| deceased[x] | 0..0 | |||
| reasonCode | 0..0 | |||
| reasonReference | 0..0 | |||
 condition | 0..0 | |||
| Documentation for this format | ||||
| Name | Flags | Card. | Type | Description & Constraints | ||||
|---|---|---|---|---|---|---|---|---|
| FamilyMemberHistory | I | 0..* | FamilyMemberHistory | Information about patient's relatives, relevant for patient | ||||
 id | Σ | 0..1 | string | Logical id of this artifact | ||||
 meta | Σ | 0..1 | Meta | Metadata about the resource | ||||
| implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
| language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
| text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
| contained | 0..* | Resource | Contained, inline Resources | |||||
| Slices for extension | 1..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
| familymemberhistory-patient-record | S | 1..1 | Reference(Patient) | Link to patient record URL: http://hl7.org/fhir/StructureDefinition/familymemberhistory-patient-record | ||||
 modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored | ||||
| identifier | Σ | 0..* | Identifier | External Id(s) for this record | ||||
| instantiatesCanonical | Σ | 0..* | canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition) | Instantiates FHIR protocol or definition | ||||
| instantiatesUri | Σ | 0..* | uri | Instantiates external protocol or definition | ||||
| status | ?!Σ | 1..1 | code | partial | completed | entered-in-error | health-unknown Binding: FamilyHistoryStatus (required): A code that identifies the status of the family history record. | ||||
| dataAbsentReason | Σ | 0..1 | CodeableConcept | subject-unknown | withheld | unable-to-obtain | deferred Binding: FamilyHistoryAbsentReason (example): Codes describing the reason why a family member's history is not available. | ||||
 patient | SΣ | 1..1 | Reference(Patient) | Patient history is about | ||||
| date | Σ | 0..1 | dateTime | When history was recorded or last updated | ||||
| relationship | SΣ | 1..1 | CodeableConcept | Relationship to the subject Binding: Pedigree Relationship Types (required) | ||||
| note | 0..* | Annotation | General note about related person | |||||
| Documentation for this format | ||||||||
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
| FamilyMemberHistory | I | 0..* | FamilyMemberHistory | Information about patient's relatives, relevant for patient |
| familymemberhistory-patient-record | 1..1 | Reference(Patient) | Link to patient record URL: http://hl7.org/fhir/StructureDefinition/familymemberhistory-patient-record | |
| patient | Σ | 1..1 | Reference(Patient) | Patient history is about |
| relationship | Σ | 1..1 | CodeableConcept | Relationship to the subject Binding: Pedigree Relationship Types (required) |
| Documentation for this format | ||||
This structure is derived from FamilyMemberHistory
Differential View
This structure is derived from FamilyMemberHistory
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
| FamilyMemberHistory | 0..* | FamilyMemberHistory | Information about patient's relatives, relevant for patient | |
| Slices for extension | 1..* | Extension | Extension Slice: Unordered, Open by value:url | |
| familymemberhistory-patient-record | S | 1..1 | Reference(Patient) | Link to patient record URL: http://hl7.org/fhir/StructureDefinition/familymemberhistory-patient-record |
| patient | S | 1..1 | Reference(Patient) | Patient history is about |
| name | 0..0 | |||
| relationship | S | 1..1 | CodeableConcept | Relationship to the subject Binding: Pedigree Relationship Types (required) |
| sex | 0..0 | |||
| born[x] | 0..0 | |||
| age[x] | 0..0 | |||
| estimatedAge | 0..0 | |||
| deceased[x] | 0..0 | |||
| reasonCode | 0..0 | |||
| reasonReference | 0..0 | |||
| condition | 0..0 | |||
| Documentation for this format | ||||
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints | ||||
|---|---|---|---|---|---|---|---|---|
| FamilyMemberHistory | I | 0..* | FamilyMemberHistory | Information about patient's relatives, relevant for patient | ||||
| id | Σ | 0..1 | string | Logical id of this artifact | ||||
| meta | Σ | 0..1 | Meta | Metadata about the resource | ||||
| implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
| language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
| text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
| contained | 0..* | Resource | Contained, inline Resources | |||||
| Slices for extension | 1..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
| familymemberhistory-patient-record | S | 1..1 | Reference(Patient) | Link to patient record URL: http://hl7.org/fhir/StructureDefinition/familymemberhistory-patient-record | ||||
| modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored | ||||
| identifier | Σ | 0..* | Identifier | External Id(s) for this record | ||||
| instantiatesCanonical | Σ | 0..* | canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition) | Instantiates FHIR protocol or definition | ||||
| instantiatesUri | Σ | 0..* | uri | Instantiates external protocol or definition | ||||
| status | ?!Σ | 1..1 | code | partial | completed | entered-in-error | health-unknown Binding: FamilyHistoryStatus (required): A code that identifies the status of the family history record. | ||||
| dataAbsentReason | Σ | 0..1 | CodeableConcept | subject-unknown | withheld | unable-to-obtain | deferred Binding: FamilyHistoryAbsentReason (example): Codes describing the reason why a family member's history is not available. | ||||
| patient | SΣ | 1..1 | Reference(Patient) | Patient history is about | ||||
| date | Σ | 0..1 | dateTime | When history was recorded or last updated | ||||
| relationship | SΣ | 1..1 | CodeableConcept | Relationship to the subject Binding: Pedigree Relationship Types (required) | ||||
| note | 0..* | Annotation | General note about related person | |||||
| Documentation for this format | ||||||||
Other representations of profile: CSV, Excel, Schematron
Terminology Bindings
| Path | Conformance | ValueSet |
| FamilyMemberHistory.language | preferred | CommonLanguages Max Binding: AllLanguages |
| FamilyMemberHistory.status | required | FamilyHistoryStatus |
| FamilyMemberHistory.dataAbsentReason | example | FamilyHistoryAbsentReason |
| FamilyMemberHistory.relationship | required | PedigreeRelationshipTypes |
| FamilyMemberHistory.condition.code | example | Condition/Problem/DiagnosisCodes |
| FamilyMemberHistory.condition.outcome | example | ConditionOutcomeCodes |
Constraints
| Id | Grade | Path | Details | Requirements |
| dom-2 | error | FamilyMemberHistory | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
| dom-3 | error | FamilyMemberHistory | 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 | FamilyMemberHistory | 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 | FamilyMemberHistory | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
| dom-6 | Best Practice | FamilyMemberHistory | A resource should have narrative for robust management : text.`div`.exists() | |
| fhs-1 | error | FamilyMemberHistory | Can have age[x] or born[x], but not both : age.empty() or born.empty() | |
| fhs-2 | error | FamilyMemberHistory | Can only have estimatedAge if age[x] is present : age.exists() or estimatedAge.empty() | |
| ele-1 | error | FamilyMemberHistory.meta | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.implicitRules | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.language | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.text | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ext-1 | error | FamilyMemberHistory.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
| ele-1 | error | FamilyMemberHistory.extension:relative | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ext-1 | error | FamilyMemberHistory.extension:relative | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
| ele-1 | error | FamilyMemberHistory.modifierExtension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ext-1 | error | FamilyMemberHistory.modifierExtension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
| ele-1 | error | FamilyMemberHistory.identifier | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.instantiatesCanonical | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.instantiatesUri | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.status | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.dataAbsentReason | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.patient | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.date | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.relationship | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.note | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.condition.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ext-1 | error | FamilyMemberHistory.condition.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
| ele-1 | error | FamilyMemberHistory.condition.modifierExtension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ext-1 | error | FamilyMemberHistory.condition.modifierExtension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
| ele-1 | error | FamilyMemberHistory.condition.code | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.condition.outcome | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.condition.contributedToDeath | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.condition.onset[x] | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
| ele-1 | error | FamilyMemberHistory.condition.note | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) |