Release 4

This page is part of the FHIR Specification (v4.0.1: R4 - Mixed Normative and STU) in it's permanent home (it will always be available at this URL). 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

9.4.9.2 StructureDefinition: FamilyMemberHistory-Genetic

Patient Care Work Group Maturity Level: 1Trial 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, Oct 2, 2013 00:00+1000 as a draft by Health Level Seven International (Clinical Genomics).

9.4.9.2.1 Formal Views of Profile Content

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

This structure is derived from FamilyMemberHistory.

NameFlagsCard.TypeDescription & Constraintsdoco
.. FamilyMemberHistory I0..*Information about patient's relatives, relevant for patient
... id Σ0..1stringLogical id of this artifact
... meta ΣI0..1MetaMetadata about the resource
... implicitRules ?!ΣI0..1uriA set of rules under which this content was created
... language I0..1codeLanguage of the resource content
Binding: Common Languages (preferred)
Max Binding: All Languages
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension I0..*ExtensionExtension
Slice: Unordered, Open by value:url
... family-member-history-genetics-parent SI0..*(Complex)Mother(s) & Father(s) - genetic & other
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent
... family-member-history-genetics-sibling SI0..*(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 SI0..*Reference(Observation)Genetic markers, ethnicity, etc.
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation
... modifierExtension ?!I0..*ExtensionExtensions that cannot be ignored
... identifier ΣI0..*IdentifierExternal Id(s) for this record
... instantiatesCanonical ΣI0..*canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)Instantiates FHIR protocol or definition
... instantiatesUri ΣI0..*uriInstantiates external protocol or definition
... status ?!ΣI1..1codepartial | completed | entered-in-error | health-unknown
Binding: FamilyHistoryStatus (required)
... dataAbsentReason ΣI0..1CodeableConceptsubject-unknown | withheld | unable-to-obtain | deferred
Binding: FamilyHistoryAbsentReason (example)
... patient ΣI1..1Reference(Patient)Patient history is about
... date ΣI0..1dateTimeWhen history was recorded or last updated
... name ΣI0..1stringThe family member described
... relationship:Relationship SΣI1..1CodeableConceptRelationship to the subject
Binding: FamilyMember (example)
... sex:Sex SΣI0..1CodeableConceptmale | female | other | unknown
Binding: AdministrativeGender (extensible)
... born[x]:BornAge SI0..1(approximate) date of birth
.... bornPeriodPeriod
.... bornDatedate
.... bornStringstring
... age[x]:Age SΣI0..1(approximate) age
.... ageAgeAge
.... ageRangeRange
.... ageStringstring
... estimatedAge ΣI0..1booleanAge is estimated?
... deceased[x]:DeceasedAge SΣI0..1Dead? How old/when?
.... deceasedBooleanboolean
.... deceasedAgeAge
.... deceasedRangeRange
.... deceasedDatedate
.... deceasedStringstring
... reasonCode ΣI0..*CodeableConceptWhy was family member history performed?
Binding: SNOMED CT Clinical Findings (example)
... reasonReference ΣI0..*Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)Why was family member history performed?
... note I0..*AnnotationGeneral note about related person
... condition:Condition SI0..*BackboneElementCondition that the related person had
.... id 0..1stringUnique id for inter-element referencing
.... extension I0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!ΣI0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... code SI1..1CodeableConceptCondition suffered by relation
Binding: Condition/Problem/Diagnosis Codes (example)
.... outcome SI0..1CodeableConceptdeceased | permanent disability | etc.
Binding: Condition Outcome Codes (example)
.... contributedToDeath I0..1booleanWhether the condition contributed to the cause of death
.... onset[x] SI0..1When condition first manifested
..... onsetAgeAge
..... onsetRangeRange
..... onsetPeriodPeriod
..... onsetStringstring
.... note I0..1AnnotationExtra information about condition

doco Documentation for this format
<!-- Family member history for genetics analysis -->doco

<FamilyMemberHistory xmlns="http://hl7.org/fhir"
>
  <!-- from Element: extension -->
 <id><!-- 0..1 string Logical id of this artifact --></id>
 <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]>
 <reasonCode><!-- ?? 0..* CodeableConcept Why was family member history performed?   --></reasonCode>
 <reasonReference><!-- ?? 0..* Reference(Condition) 
     Why was family member history performed? --></reasonReference>
 <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..1 Annotation 
      Extra information about condition --></note>
 </condition>
</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?
    "reasonCode" : [{ CodeableConcept }], // C?Why was family member history performed?
    "reasonReference" : [{ Reference(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
  }

This structure is derived from FamilyMemberHistory.

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. FamilyMemberHistory I0..*Information about patient's relatives, relevant for patient
... id Σ0..1stringLogical id of this artifact
... meta ΣI0..1MetaMetadata about the resource
... implicitRules ?!ΣI0..1uriA set of rules under which this content was created
... language I0..1codeLanguage of the resource content
Binding: Common Languages (preferred)
Max Binding: All Languages
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension I0..*ExtensionExtension
Slice: Unordered, Open by value:url
... family-member-history-genetics-parent SI0..*(Complex)Mother(s) & Father(s) - genetic & other
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent
... family-member-history-genetics-sibling SI0..*(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 SI0..*Reference(Observation)Genetic markers, ethnicity, etc.
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation
... modifierExtension ?!I0..*ExtensionExtensions that cannot be ignored
... identifier ΣI0..*IdentifierExternal Id(s) for this record
... instantiatesCanonical ΣI0..*canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)Instantiates FHIR protocol or definition
... instantiatesUri ΣI0..*uriInstantiates external protocol or definition
... status ?!ΣI1..1codepartial | completed | entered-in-error | health-unknown
Binding: FamilyHistoryStatus (required)
... dataAbsentReason ΣI0..1CodeableConceptsubject-unknown | withheld | unable-to-obtain | deferred
Binding: FamilyHistoryAbsentReason (example)
... patient ΣI1..1Reference(Patient)Patient history is about
... date ΣI0..1dateTimeWhen history was recorded or last updated
... name ΣI0..1stringThe family member described
... relationship:Relationship SΣI1..1CodeableConceptRelationship to the subject
Binding: FamilyMember (example)
... sex:Sex SΣI0..1CodeableConceptmale | female | other | unknown
Binding: AdministrativeGender (extensible)
... born[x]:BornAge SI0..1(approximate) date of birth
.... bornPeriodPeriod
.... bornDatedate
.... bornStringstring
... age[x]:Age SΣI0..1(approximate) age
.... ageAgeAge
.... ageRangeRange
.... ageStringstring
... estimatedAge ΣI0..1booleanAge is estimated?
... deceased[x]:DeceasedAge SΣI0..1Dead? How old/when?
.... deceasedBooleanboolean
.... deceasedAgeAge
.... deceasedRangeRange
.... deceasedDatedate
.... deceasedStringstring
... reasonCode ΣI0..*CodeableConceptWhy was family member history performed?
Binding: SNOMED CT Clinical Findings (example)
... reasonReference ΣI0..*Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)Why was family member history performed?
... note I0..*AnnotationGeneral note about related person
... condition:Condition SI0..*BackboneElementCondition that the related person had
.... id 0..1stringUnique id for inter-element referencing
.... extension I0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!ΣI0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... code SI1..1CodeableConceptCondition suffered by relation
Binding: Condition/Problem/Diagnosis Codes (example)
.... outcome SI0..1CodeableConceptdeceased | permanent disability | etc.
Binding: Condition Outcome Codes (example)
.... contributedToDeath I0..1booleanWhether the condition contributed to the cause of death
.... onset[x] SI0..1When condition first manifested
..... onsetAgeAge
..... onsetRangeRange
..... onsetPeriodPeriod
..... onsetStringstring
.... note I0..1AnnotationExtra information about condition

doco Documentation for this format

XML Template

<!-- Family member history for genetics analysis -->doco

<FamilyMemberHistory xmlns="http://hl7.org/fhir"
>
  <!-- from Element: extension -->
 <id><!-- 0..1 string Logical id of this artifact --></id>
 <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]>
 <reasonCode><!-- ?? 0..* CodeableConcept Why was family member history performed?   --></reasonCode>
 <reasonReference><!-- ?? 0..* Reference(Condition) 
     Why was family member history performed? --></reasonReference>
 <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..1 Annotation 
      Extra information about condition --></note>
 </condition>
</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?
    "reasonCode" : [{ CodeableConcept }], // C?Why was family member history performed?
    "reasonReference" : [{ Reference(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
  }

 

Alternate definitions: Master Definition (XML, JSON), Schematron

9.4.9.2.2 Terminology Bindings

PathNameConformanceValueSet
FamilyMemberHistory.languageCommon LanguagespreferredCommon Languages
FamilyMemberHistory.statusFamilyHistoryStatusrequiredFamilyHistoryStatus
FamilyMemberHistory.dataAbsentReasonFamilyHistoryAbsentReasonexampleFamilyHistoryAbsentReason
FamilyMemberHistory.relationshipV3 Value SetFamilyMemberexampleV3 Value SetFamilyMember
FamilyMemberHistory.sexAdministrativeGenderextensibleAdministrativeGender
FamilyMemberHistory.reasonCodeSNOMED CT Clinical FindingsexampleSNOMED CT Clinical Findings
FamilyMemberHistory.condition.codeCondition/Problem/Diagnosis CodesexampleCondition/Problem/Diagnosis Codes
FamilyMemberHistory.condition.outcomeCondition Outcome CodesexampleCondition Outcome Codes
.