This page is part of the FHIR Specification (v4.4.0: R5 Preview #2). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4 R3 R2
Patient Care Work Group | Maturity Level: 1 | Trial Use | Use Context: Any |
The official URL for this profile is:
http://hl7.org/fhir/StructureDefinition/familymemberhistory-genetic
Adds additional information to a family member history supporting both the capture of mother/father relationships as well as additional observations necessary to enable genetics-based risk analysis for patients
This profile was published on Wed, May 29, 2019 00:00+1000 as a draft by Health Level Seven International (Clinical Genomics).
Description of Profiles, Differentials, Snapshots, and how the XML and JSON presentations work.
This structure is derived from FamilyMemberHistory.
This structure is derived from FamilyMemberHistory.
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
FamilyMemberHistory | I | 0..* | FamilyMemberHistory | Information about patient's relatives, relevant for patient |
id | Σ | 0..1 | id | Logical id of this artifact |
meta | ΣI | 0..1 | Meta | Metadata about the resource |
implicitRules | ?!ΣI | 0..1 | uri | A set of rules under which this content was created |
language | I | 0..1 | code | Language of the resource content Binding: Common Languages (preferred) Max Binding: All Languages |
text | I | 0..1 | Narrative | Text summary of the resource, for human interpretation |
contained | 0..* | Resource | Contained, inline Resources | |
extension | I | 0..* | Extension | Extension Slice: Unordered, Open by value:url |
family-member-history-genetics-parent | SI | 0..* | (Complex) | Mother(s) & Father(s) - genetic & other URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent |
family-member-history-genetics-sibling | SI | 0..* | (Complex) | natural brother(s) & natural sister(s) - genetic & other URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling |
family-member-history-genetics-observation | SI | 0..* | Reference(Observation) | Genetic markers, ethnicity, etc. URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation |
modifierExtension | ?!I | 0..* | Extension | Extensions that cannot be ignored |
identifier | ΣI | 0..* | Identifier | External Id(s) for this record |
instantiatesCanonical | ΣI | 0..* | canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition) | Instantiates FHIR protocol or definition |
instantiatesUri | ΣI | 0..* | uri | Instantiates external protocol or definition |
status | ?!ΣI | 1..1 | code | partial | completed | entered-in-error | health-unknown Binding: FamilyHistoryStatus (required) |
dataAbsentReason | ΣI | 0..1 | CodeableConcept | subject-unknown | withheld | unable-to-obtain | deferred Binding: FamilyHistoryAbsentReason (example) |
patient | ΣI | 1..1 | Reference(Patient) | Patient history is about |
date | ΣI | 0..1 | dateTime | When history was recorded or last updated |
name | ΣI | 0..1 | string | The family member described |
relationship | SΣI | 1..1 | CodeableConcept | Relationship to the subject Binding: FamilyMember (example) |
sex | SΣI | 0..1 | CodeableConcept | male | female | other | unknown Binding: AdministrativeGender (extensible) |
born[x] | SI | 0..1 | (approximate) date of birth | |
bornPeriod | Period | |||
bornDate | date | |||
bornString | string | |||
age[x] | SΣI | 0..1 | (approximate) age | |
ageAge | Age | |||
ageRange | Range | |||
ageString | string | |||
estimatedAge | ΣI | 0..1 | boolean | Age is estimated? |
deceased[x] | SΣI | 0..1 | Dead? How old/when? | |
deceasedBoolean | boolean | |||
deceasedAge | Age | |||
deceasedRange | Range | |||
deceasedDate | date | |||
deceasedString | string | |||
reason | ΣI | 0..* | CodeableReference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference) | Why was family member history performed? Binding: SNOMED CT Clinical Findings (example) |
note | I | 0..* | Annotation | General note about related person |
condition | SI | 0..* | BackboneElement | Condition that the related person had |
id | 0..1 | id | Unique id for inter-element referencing | |
extension | I | 0..* | Extension | Additional content defined by implementations |
modifierExtension | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | SI | 1..1 | CodeableConcept | Condition suffered by relation Binding: Condition/Problem/Diagnosis Codes (example) |
outcome | SI | 0..1 | CodeableConcept | deceased | permanent disability | etc. Binding: Condition Outcome Codes (example) |
contributedToDeath | I | 0..1 | boolean | Whether the condition contributed to the cause of death |
onset[x] | SI | 0..1 | When condition first manifested | |
onsetAge | Age | |||
onsetRange | Range | |||
onsetPeriod | Period | |||
onsetString | string | |||
note | I | 0..* | Annotation | Extra information about condition |
procedure | I | 0..* | BackboneElement | Procedures that the related person had |
id | 0..1 | id | Unique id for inter-element referencing | |
extension | I | 0..* | Extension | Additional content defined by implementations |
modifierExtension | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | I | 1..1 | CodeableConcept | Procedures performed on the related person Binding: Procedure Codes (SNOMED CT) (example) |
outcome | I | 0..1 | CodeableConcept | What happened following the procedure Binding: SNOMED CT Clinical Findings (example) |
contributedToDeath | I | 0..1 | boolean | Whether the procedure contributed to the cause of death |
performed[x] | I | 0..1 | When the procedure was performed | |
performedAge | Age | |||
performedRange | Range | |||
performedPeriod | Period | |||
performedString | string | |||
performedDateTime | dateTime | |||
note | I | 0..* | Annotation | Extra information about the procedure |
Documentation for this format |
<!-- Family member history for genetics analysis --> <FamilyMemberHistory xmlns="http://hl7.org/fhir" > <!-- from Element: extension --> <id value="[id]"/><!-- 0..1 Logical id of this artifact --> <meta><!-- 0..1 Meta Metadata about the resource --></meta> <implicitRules value="[uri]"/><!-- 0..1 A set of rules under which this content was created --> <language value="[code]"/><!-- 0..1 Language of the resource content --> <text><!-- 0..1 Narrative Text summary of the resource, for human interpretation --></text> <contained><!-- 0..* Resource Contained, inline Resources --></contained> <modifierExtension><!-- 0..* Extension Extensions that cannot be ignored --></modifierExtension> <identifier><!-- 0..* Identifier External Id(s) for this record --></identifier> <instantiatesCanonical value="[canonical]"/><!-- 0..* Instantiates FHIR protocol or definition --> <instantiatesUri value="[uri]"/><!-- 0..* Instantiates external protocol or definition --> <status value="[code]"/><!-- 1..1 partial | completed | entered-in-error | health-unknown --> <dataAbsentReason><!-- 0..1 CodeableConcept subject-unknown | withheld | unable-to-obtain | deferred --></dataAbsentReason> <patient><!-- 1..1 Reference(Patient) Patient history is about --></patient> <date value="[dateTime]"/><!-- 0..1 When history was recorded or last updated --> <name value="[string]"/><!-- 0..1 The family member described --> <relationship><!-- 1..1 CodeableConcept Relationship to the subject --></relationship> <sex><!-- 0..1 CodeableConcept male | female | other | unknown --></sex> <born[x]><!-- 0..1 Period|date|string (approximate) date of birth --></born[x]> <age[x]><!-- 0..1 Age|Range|string (approximate) age --></age[x]> <estimatedAge value="[boolean]"/><!-- 0..1 Age is estimated? --> <deceased[x]><!-- 0..1 boolean|Age|Range|date|string Dead? How old/when? --></deceased[x]> <reason><!-- 0..* CodeableReference Why was family member history performed? --></reason> <note><!-- 0..* Annotation General note about related person --></note> <condition> 0..* BackboneElement <!-- 0..* Condition that the related person had --> <modifierExtension><!-- 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <code><!-- 1..1 CodeableConcept Condition suffered by relation --></code> <outcome><!-- 0..1 CodeableConcept deceased | permanent disability | etc. --></outcome> <contributedToDeath value="[boolean]"/><!-- 0..1 Whether the condition contributed to the cause of death --> <onset[x]><!-- 0..1 Age|Range|Period|string When condition first manifested --></onset[x]> <note><!-- 0..* Annotation Extra information about condition --></note> </condition> <procedure> 0..* BackboneElement <!-- 0..* Procedures that the related person had --> <modifierExtension><!-- 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <code><!-- 1..1 CodeableConcept Procedures performed on the related person --></code> <outcome><!-- 0..1 CodeableConcept What happened following the procedure --></outcome> <contributedToDeath value="[boolean]"/><!-- 0..1 Whether the procedure contributed to the cause of death --> <performed[x]><!-- 0..1 Age|Range|Period|string| dateTime When the procedure was performed --></performed[x]> <note><!-- 0..* Annotation Extra information about the procedure --></note> </procedure> </FamilyMemberHistory>
{ // Family member history for genetics analysis // from Element: extension "meta" : { Meta }, // C?Metadata about the resource "implicitRules" : "<uri>", // C?A set of rules under which this content was created "language" : "<code>", // C?Language of the resource content "text" : { Narrative }, // C?Text summary of the resource, for human interpretation "contained" : [{ Resource }], //Contained, inline Resources "extension" : [ // sliced by value:url in the specified order, Open { // Mother(s) & Father(s) - genetic & other // C? // from Element: extension }, { // natural brother(s) & natural sister(s) - genetic & other // C? // from Element: extension }, { // Genetic markers, ethnicity, etc. // C? // from Element: extension } ], "modifierExtension" : [{ Extension }], // C?Extensions that cannot be ignored "identifier" : [{ Identifier }], // C?External Id(s) for this record "instantiatesCanonical" : ["<canonical>"], // C?Instantiates FHIR protocol or definition "instantiatesUri" : ["<uri>"], // C?Instantiates external protocol or definition "status" : "<code>", // C? R! partial | completed | entered-in-error | health-unknown "dataAbsentReason" : { CodeableConcept }, // C?subject-unknown | withheld | unable-to-obtain | deferred "patient" : { Reference(Patient) }, // C? R! Patient history is about "date" : "<dateTime>", // C?When history was recorded or last updated "name" : "<string>", // C?The family member described "relationship" : { CodeableConcept }, // C? R! Relationship to the subject "sex" : { CodeableConcept }, // C?male | female | other | unknown // value[x]: (approximate) date of birth. One of these 3: "bornPeriod" : { Period }, // C?(approximate) date of birth "bornDate" : "<date>", // C?(approximate) date of birth "bornString" : "<string>", // C?(approximate) date of birth // value[x]: (approximate) age. One of these 3: "ageAge" : { Age }, // C?(approximate) age "ageRange" : { Range }, // C?(approximate) age "ageString" : "<string>", // C?(approximate) age "estimatedAge" : <boolean>, // C?Age is estimated? // value[x]: Dead? How old/when?. One of these 5: "deceasedBoolean" : <boolean>, // C?Dead? How old/when? "deceasedAge" : { Age }, // C?Dead? How old/when? "deceasedRange" : { Range }, // C?Dead? How old/when? "deceasedDate" : "<date>" // C?Dead? How old/when? "deceasedString" : "<string>", // C?Dead? How old/when? "reason" : [{ CodeableReference(Condition) }], // C?Why was family member history performed? "note" : [{ Annotation }], // C?General note about related person "condition" : [{ BackboneElement }], // C?Condition that the related person had "procedure" : [{ BackboneElement }], // C?Procedures that the related person had }
This structure is derived from FamilyMemberHistory.
Differential View
This structure is derived from FamilyMemberHistory.
Snapshot View
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
FamilyMemberHistory | I | 0..* | FamilyMemberHistory | Information about patient's relatives, relevant for patient |
id | Σ | 0..1 | id | Logical id of this artifact |
meta | ΣI | 0..1 | Meta | Metadata about the resource |
implicitRules | ?!ΣI | 0..1 | uri | A set of rules under which this content was created |
language | I | 0..1 | code | Language of the resource content Binding: Common Languages (preferred) Max Binding: All Languages |
text | I | 0..1 | Narrative | Text summary of the resource, for human interpretation |
contained | 0..* | Resource | Contained, inline Resources | |
extension | I | 0..* | Extension | Extension Slice: Unordered, Open by value:url |
family-member-history-genetics-parent | SI | 0..* | (Complex) | Mother(s) & Father(s) - genetic & other URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent |
family-member-history-genetics-sibling | SI | 0..* | (Complex) | natural brother(s) & natural sister(s) - genetic & other URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling |
family-member-history-genetics-observation | SI | 0..* | Reference(Observation) | Genetic markers, ethnicity, etc. URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation |
modifierExtension | ?!I | 0..* | Extension | Extensions that cannot be ignored |
identifier | ΣI | 0..* | Identifier | External Id(s) for this record |
instantiatesCanonical | ΣI | 0..* | canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition) | Instantiates FHIR protocol or definition |
instantiatesUri | ΣI | 0..* | uri | Instantiates external protocol or definition |
status | ?!ΣI | 1..1 | code | partial | completed | entered-in-error | health-unknown Binding: FamilyHistoryStatus (required) |
dataAbsentReason | ΣI | 0..1 | CodeableConcept | subject-unknown | withheld | unable-to-obtain | deferred Binding: FamilyHistoryAbsentReason (example) |
patient | ΣI | 1..1 | Reference(Patient) | Patient history is about |
date | ΣI | 0..1 | dateTime | When history was recorded or last updated |
name | ΣI | 0..1 | string | The family member described |
relationship | SΣI | 1..1 | CodeableConcept | Relationship to the subject Binding: FamilyMember (example) |
sex | SΣI | 0..1 | CodeableConcept | male | female | other | unknown Binding: AdministrativeGender (extensible) |
born[x] | SI | 0..1 | (approximate) date of birth | |
bornPeriod | Period | |||
bornDate | date | |||
bornString | string | |||
age[x] | SΣI | 0..1 | (approximate) age | |
ageAge | Age | |||
ageRange | Range | |||
ageString | string | |||
estimatedAge | ΣI | 0..1 | boolean | Age is estimated? |
deceased[x] | SΣI | 0..1 | Dead? How old/when? | |
deceasedBoolean | boolean | |||
deceasedAge | Age | |||
deceasedRange | Range | |||
deceasedDate | date | |||
deceasedString | string | |||
reason | ΣI | 0..* | CodeableReference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference) | Why was family member history performed? Binding: SNOMED CT Clinical Findings (example) |
note | I | 0..* | Annotation | General note about related person |
condition | SI | 0..* | BackboneElement | Condition that the related person had |
id | 0..1 | id | Unique id for inter-element referencing | |
extension | I | 0..* | Extension | Additional content defined by implementations |
modifierExtension | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | SI | 1..1 | CodeableConcept | Condition suffered by relation Binding: Condition/Problem/Diagnosis Codes (example) |
outcome | SI | 0..1 | CodeableConcept | deceased | permanent disability | etc. Binding: Condition Outcome Codes (example) |
contributedToDeath | I | 0..1 | boolean | Whether the condition contributed to the cause of death |
onset[x] | SI | 0..1 | When condition first manifested | |
onsetAge | Age | |||
onsetRange | Range | |||
onsetPeriod | Period | |||
onsetString | string | |||
note | I | 0..* | Annotation | Extra information about condition |
procedure | I | 0..* | BackboneElement | Procedures that the related person had |
id | 0..1 | id | Unique id for inter-element referencing | |
extension | I | 0..* | Extension | Additional content defined by implementations |
modifierExtension | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | I | 1..1 | CodeableConcept | Procedures performed on the related person Binding: Procedure Codes (SNOMED CT) (example) |
outcome | I | 0..1 | CodeableConcept | What happened following the procedure Binding: SNOMED CT Clinical Findings (example) |
contributedToDeath | I | 0..1 | boolean | Whether the procedure contributed to the cause of death |
performed[x] | I | 0..1 | When the procedure was performed | |
performedAge | Age | |||
performedRange | Range | |||
performedPeriod | Period | |||
performedString | string | |||
performedDateTime | dateTime | |||
note | I | 0..* | Annotation | Extra information about the procedure |
Documentation for this format |
XML Template
<!-- Family member history for genetics analysis --> <FamilyMemberHistory xmlns="http://hl7.org/fhir" > <!-- from Element: extension --> <id value="[id]"/><!-- 0..1 Logical id of this artifact --> <meta><!-- 0..1 Meta Metadata about the resource --></meta> <implicitRules value="[uri]"/><!-- 0..1 A set of rules under which this content was created --> <language value="[code]"/><!-- 0..1 Language of the resource content --> <text><!-- 0..1 Narrative Text summary of the resource, for human interpretation --></text> <contained><!-- 0..* Resource Contained, inline Resources --></contained> <modifierExtension><!-- 0..* Extension Extensions that cannot be ignored --></modifierExtension> <identifier><!-- 0..* Identifier External Id(s) for this record --></identifier> <instantiatesCanonical value="[canonical]"/><!-- 0..* Instantiates FHIR protocol or definition --> <instantiatesUri value="[uri]"/><!-- 0..* Instantiates external protocol or definition --> <status value="[code]"/><!-- 1..1 partial | completed | entered-in-error | health-unknown --> <dataAbsentReason><!-- 0..1 CodeableConcept subject-unknown | withheld | unable-to-obtain | deferred --></dataAbsentReason> <patient><!-- 1..1 Reference(Patient) Patient history is about --></patient> <date value="[dateTime]"/><!-- 0..1 When history was recorded or last updated --> <name value="[string]"/><!-- 0..1 The family member described --> <relationship><!-- 1..1 CodeableConcept Relationship to the subject --></relationship> <sex><!-- 0..1 CodeableConcept male | female | other | unknown --></sex> <born[x]><!-- 0..1 Period|date|string (approximate) date of birth --></born[x]> <age[x]><!-- 0..1 Age|Range|string (approximate) age --></age[x]> <estimatedAge value="[boolean]"/><!-- 0..1 Age is estimated? --> <deceased[x]><!-- 0..1 boolean|Age|Range|date|string Dead? How old/when? --></deceased[x]> <reason><!-- 0..* CodeableReference Why was family member history performed? --></reason> <note><!-- 0..* Annotation General note about related person --></note> <condition> 0..* BackboneElement <!-- 0..* Condition that the related person had --> <modifierExtension><!-- 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <code><!-- 1..1 CodeableConcept Condition suffered by relation --></code> <outcome><!-- 0..1 CodeableConcept deceased | permanent disability | etc. --></outcome> <contributedToDeath value="[boolean]"/><!-- 0..1 Whether the condition contributed to the cause of death --> <onset[x]><!-- 0..1 Age|Range|Period|string When condition first manifested --></onset[x]> <note><!-- 0..* Annotation Extra information about condition --></note> </condition> <procedure> 0..* BackboneElement <!-- 0..* Procedures that the related person had --> <modifierExtension><!-- 0..* Extension Extensions that cannot be ignored even if unrecognized --></modifierExtension> <code><!-- 1..1 CodeableConcept Procedures performed on the related person --></code> <outcome><!-- 0..1 CodeableConcept What happened following the procedure --></outcome> <contributedToDeath value="[boolean]"/><!-- 0..1 Whether the procedure contributed to the cause of death --> <performed[x]><!-- 0..1 Age|Range|Period|string| dateTime When the procedure was performed --></performed[x]> <note><!-- 0..* Annotation Extra information about the procedure --></note> </procedure> </FamilyMemberHistory>
JSON Template
{ // Family member history for genetics analysis // from Element: extension "meta" : { Meta }, // C?Metadata about the resource "implicitRules" : "<uri>", // C?A set of rules under which this content was created "language" : "<code>", // C?Language of the resource content "text" : { Narrative }, // C?Text summary of the resource, for human interpretation "contained" : [{ Resource }], //Contained, inline Resources "extension" : [ // sliced by value:url in the specified order, Open { // Mother(s) & Father(s) - genetic & other // C? // from Element: extension }, { // natural brother(s) & natural sister(s) - genetic & other // C? // from Element: extension }, { // Genetic markers, ethnicity, etc. // C? // from Element: extension } ], "modifierExtension" : [{ Extension }], // C?Extensions that cannot be ignored "identifier" : [{ Identifier }], // C?External Id(s) for this record "instantiatesCanonical" : ["<canonical>"], // C?Instantiates FHIR protocol or definition "instantiatesUri" : ["<uri>"], // C?Instantiates external protocol or definition "status" : "<code>", // C? R! partial | completed | entered-in-error | health-unknown "dataAbsentReason" : { CodeableConcept }, // C?subject-unknown | withheld | unable-to-obtain | deferred "patient" : { Reference(Patient) }, // C? R! Patient history is about "date" : "<dateTime>", // C?When history was recorded or last updated "name" : "<string>", // C?The family member described "relationship" : { CodeableConcept }, // C? R! Relationship to the subject "sex" : { CodeableConcept }, // C?male | female | other | unknown // value[x]: (approximate) date of birth. One of these 3: "bornPeriod" : { Period }, // C?(approximate) date of birth "bornDate" : "<date>", // C?(approximate) date of birth "bornString" : "<string>", // C?(approximate) date of birth // value[x]: (approximate) age. One of these 3: "ageAge" : { Age }, // C?(approximate) age "ageRange" : { Range }, // C?(approximate) age "ageString" : "<string>", // C?(approximate) age "estimatedAge" : <boolean>, // C?Age is estimated? // value[x]: Dead? How old/when?. One of these 5: "deceasedBoolean" : <boolean>, // C?Dead? How old/when? "deceasedAge" : { Age }, // C?Dead? How old/when? "deceasedRange" : { Range }, // C?Dead? How old/when? "deceasedDate" : "<date>" // C?Dead? How old/when? "deceasedString" : "<string>", // C?Dead? How old/when? "reason" : [{ CodeableReference(Condition) }], // C?Why was family member history performed? "note" : [{ Annotation }], // C?General note about related person "condition" : [{ BackboneElement }], // C?Condition that the related person had "procedure" : [{ BackboneElement }], // C?Procedures that the related person had }
Alternate definitions: Master Definition (XML, JSON), Schematron
Path | Name | Conformance | ValueSet |
FamilyMemberHistory.language | Common Languages | preferred | Common Languages |
FamilyMemberHistory.status | FamilyHistoryStatus | required | FamilyHistoryStatus |
FamilyMemberHistory.dataAbsentReason | FamilyHistoryAbsentReason | example | FamilyHistoryAbsentReason |
FamilyMemberHistory.relationship | V3 Value SetFamilyMember | example | V3 Value SetFamilyMember |
FamilyMemberHistory.sex | AdministrativeGender | extensible | AdministrativeGender |
FamilyMemberHistory.reason | SNOMED CT Clinical Findings | example | SNOMED CT Clinical Findings |
FamilyMemberHistory.condition.code | Condition/Problem/Diagnosis Codes | example | Condition/Problem/Diagnosis Codes |
FamilyMemberHistory.condition.outcome | Condition Outcome Codes | example | Condition Outcome Codes |
FamilyMemberHistory.procedure.code | Procedure Codes (SNOMED CT) | example | Procedure Codes (SNOMED CT) |
FamilyMemberHistory.procedure.outcome | SNOMED CT Clinical Findings | example | SNOMED CT Clinical Findings |