R4 Ballot #2 (Mixed Normative/Trial use)

This page is part of the FHIR Specification (v3.5.0: R4 Ballot #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

9.4.8.2 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).

9.4.8.2.1 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..1idLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: Language (preferred)
... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension 0..*ExtensionExtension
Slice: Unordered, Open by value:url
... family-member-history-genetics-parent SI0..*(Complex)Extension
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent
... family-member-history-genetics-sibling SI0..*(Complex)Extension
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling
... family-member-history-genetics-observation SI0..*Reference(Observation)Extension
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierExternal Id(s) for this record
... instantiatesCanonical Σ0..*canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)Instantiates FHIR protocol or definition
... instantiatesUri Σ0..*uriInstantiates external protocol or definition
... status ?!Σ1..1codepartial | completed | entered-in-error | health-unknown
Binding: FamilyHistoryStatus (required)
... dataAbsentReason Σ0..1CodeableConceptsubject-unknown | withheld | unable-to-obtain | deferred
Binding: FamilyHistoryAbsentReason (example)
... patient Σ1..1Reference(Patient)Patient history is about
... date Σ0..1dateTimeWhen history was recorded or last updated
... name Σ0..1stringThe family member described
... relationship SΣ1..1CodeableConceptRelationship to the subject
Binding: FamilyMember (example)
... gender SΣ0..1CodeableConceptmale | female | unknown
Binding: Birth Sex (extensible)
... born[x] SI0..1Period, date, string(approximate) date of birth
... age[x] SΣI0..1Age, Range, string(approximate) age
... estimatedAge ΣI0..1booleanAge is estimated?
... deceased[x] SΣ0..1boolean, Age, Range, date, stringDead? How old/when?
... reasonCode Σ0..*CodeableConceptWhy was family member history performed?
Binding: SNOMED CT Clinical Findings (example)
... reasonReference Σ0..*Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)Why was family member history performed?
... note 0..*AnnotationGeneral note about related person
... condition SI0..*BackboneElementCondition that the related person had
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored if unrecognized
.... code S1..1CodeableConceptCondition suffered by relation
Binding: Condition/Problem/Diagnosis Codes (example)
.... outcome S0..1CodeableConceptdeceased | permanent disability | etc.
Binding: Condition Outcome Codes (example)
.... onset[x] S0..1Age, Range, Period, stringWhen condition first manifested
.... note 0..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 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>
 <gender><!-- 0..1 CodeableConcept male | female | unknown   --></gender>
 <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 if unrecognized  --></modifierExtension>
  <code><!-- 1..1 CodeableConcept Condition suffered by relation   --></code>
  <outcome><!-- 0..1 CodeableConcept deceased | permanent disability | etc.   --></outcome>
  <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 }, //Metadata about the resource
    "implicitRules" : "<uri>", //A set of rules under which this content was created
    "language" : "<code>", //Language of the resource content
    "text" : { Narrative }, //Text summary of the resource, for human interpretation
    "contained" : [{ Resource }], //Contained, inline Resources
    "extension" : [ //  sliced by value:url  in the specified order, Open 
      { // Extension // C?
        // from Element: extension
      },
      { // Extension // C?
        // from Element: extension
      },
      { // Extension // C?
        // from Element: extension
      }
    ],
    "modifierExtension" : [{ Extension }], //Extensions that cannot be ignored
    "identifier" : [{ Identifier }], //External Id(s) for this record
    "instantiatesCanonical" : ["<canonical>"], //Instantiates FHIR protocol or definition
    "instantiatesUri" : ["<uri>"], //Instantiates external protocol or definition
    "status" : "<code>", // R! partial | completed | entered-in-error | health-unknown
    "dataAbsentReason" : { CodeableConcept }, //subject-unknown | withheld | unable-to-obtain | deferred
    "patient" : { Reference(Patient) }, // R! Patient history is about
    "date" : "<dateTime>", //When history was recorded or last updated
    "name" : "<string>", //The family member described
    "relationship" : { CodeableConcept }, // R! Relationship to the subject
    "gender" : { CodeableConcept }, //male | female | unknown
// value[x]: (approximate) date of birth. One of these 3:
    "bornPeriod" : { Period }, //(approximate) date of birth
    "bornDate" : "<date>", //(approximate) date of birth
    "bornString" : "<string>", //(approximate) date of birth
// value[x]: (approximate) age. One of these 3:
    "ageAge" : { Age }, //(approximate) age
    "ageRange" : { Range }, //(approximate) age
    "ageString" : "<string>", //(approximate) age
    "estimatedAge" : <boolean>, //Age is estimated?
// value[x]: Dead? How old/when?. One of these 5:
    "deceasedBoolean" : <boolean>, //Dead? How old/when?
    "deceasedAge" : { Age }, //Dead? How old/when?
    "deceasedRange" : { Range }, //Dead? How old/when?
    "deceasedDate" : "<date>" //Dead? How old/when?
    "deceasedString" : "<string>", //Dead? How old/when?
    "reasonCode" : [{ CodeableConcept }], //Why was family member history performed?
    "reasonReference" : [{ Reference(Condition) }], //Why was family member history performed?
    "note" : [{ Annotation }], //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..1idLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: Language (preferred)
... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension 0..*ExtensionExtension
Slice: Unordered, Open by value:url
... family-member-history-genetics-parent SI0..*(Complex)Extension
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent
... family-member-history-genetics-sibling SI0..*(Complex)Extension
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling
... family-member-history-genetics-observation SI0..*Reference(Observation)Extension
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierExternal Id(s) for this record
... instantiatesCanonical Σ0..*canonical(PlanDefinition | Questionnaire | ActivityDefinition | Measure | OperationDefinition)Instantiates FHIR protocol or definition
... instantiatesUri Σ0..*uriInstantiates external protocol or definition
... status ?!Σ1..1codepartial | completed | entered-in-error | health-unknown
Binding: FamilyHistoryStatus (required)
... dataAbsentReason Σ0..1CodeableConceptsubject-unknown | withheld | unable-to-obtain | deferred
Binding: FamilyHistoryAbsentReason (example)
... patient Σ1..1Reference(Patient)Patient history is about
... date Σ0..1dateTimeWhen history was recorded or last updated
... name Σ0..1stringThe family member described
... relationship SΣ1..1CodeableConceptRelationship to the subject
Binding: FamilyMember (example)
... gender SΣ0..1CodeableConceptmale | female | unknown
Binding: Birth Sex (extensible)
... born[x] SI0..1Period, date, string(approximate) date of birth
... age[x] SΣI0..1Age, Range, string(approximate) age
... estimatedAge ΣI0..1booleanAge is estimated?
... deceased[x] SΣ0..1boolean, Age, Range, date, stringDead? How old/when?
... reasonCode Σ0..*CodeableConceptWhy was family member history performed?
Binding: SNOMED CT Clinical Findings (example)
... reasonReference Σ0..*Reference(Condition | Observation | AllergyIntolerance | QuestionnaireResponse | DiagnosticReport | DocumentReference)Why was family member history performed?
... note 0..*AnnotationGeneral note about related person
... condition SI0..*BackboneElementCondition that the related person had
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored if unrecognized
.... code S1..1CodeableConceptCondition suffered by relation
Binding: Condition/Problem/Diagnosis Codes (example)
.... outcome S0..1CodeableConceptdeceased | permanent disability | etc.
Binding: Condition Outcome Codes (example)
.... onset[x] S0..1Age, Range, Period, stringWhen condition first manifested
.... note 0..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 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>
 <gender><!-- 0..1 CodeableConcept male | female | unknown   --></gender>
 <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 if unrecognized  --></modifierExtension>
  <code><!-- 1..1 CodeableConcept Condition suffered by relation   --></code>
  <outcome><!-- 0..1 CodeableConcept deceased | permanent disability | etc.   --></outcome>
  <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 }, //Metadata about the resource
    "implicitRules" : "<uri>", //A set of rules under which this content was created
    "language" : "<code>", //Language of the resource content
    "text" : { Narrative }, //Text summary of the resource, for human interpretation
    "contained" : [{ Resource }], //Contained, inline Resources
    "extension" : [ //  sliced by value:url  in the specified order, Open 
      { // Extension // C?
        // from Element: extension
      },
      { // Extension // C?
        // from Element: extension
      },
      { // Extension // C?
        // from Element: extension
      }
    ],
    "modifierExtension" : [{ Extension }], //Extensions that cannot be ignored
    "identifier" : [{ Identifier }], //External Id(s) for this record
    "instantiatesCanonical" : ["<canonical>"], //Instantiates FHIR protocol or definition
    "instantiatesUri" : ["<uri>"], //Instantiates external protocol or definition
    "status" : "<code>", // R! partial | completed | entered-in-error | health-unknown
    "dataAbsentReason" : { CodeableConcept }, //subject-unknown | withheld | unable-to-obtain | deferred
    "patient" : { Reference(Patient) }, // R! Patient history is about
    "date" : "<dateTime>", //When history was recorded or last updated
    "name" : "<string>", //The family member described
    "relationship" : { CodeableConcept }, // R! Relationship to the subject
    "gender" : { CodeableConcept }, //male | female | unknown
// value[x]: (approximate) date of birth. One of these 3:
    "bornPeriod" : { Period }, //(approximate) date of birth
    "bornDate" : "<date>", //(approximate) date of birth
    "bornString" : "<string>", //(approximate) date of birth
// value[x]: (approximate) age. One of these 3:
    "ageAge" : { Age }, //(approximate) age
    "ageRange" : { Range }, //(approximate) age
    "ageString" : "<string>", //(approximate) age
    "estimatedAge" : <boolean>, //Age is estimated?
// value[x]: Dead? How old/when?. One of these 5:
    "deceasedBoolean" : <boolean>, //Dead? How old/when?
    "deceasedAge" : { Age }, //Dead? How old/when?
    "deceasedRange" : { Range }, //Dead? How old/when?
    "deceasedDate" : "<date>" //Dead? How old/when?
    "deceasedString" : "<string>", //Dead? How old/when?
    "reasonCode" : [{ CodeableConcept }], //Why was family member history performed?
    "reasonReference" : [{ Reference(Condition) }], //Why was family member history performed?
    "note" : [{ Annotation }], //General note about related person
    "condition" : [{ BackboneElement }], // C?Condition that the related person had
  }

 

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

9.4.8.2.2 Terminology Bindings

PathNameConformanceValueSet
FamilyMemberHistory.languageLanguagepreferredLanguage
FamilyMemberHistory.statusFamilyHistoryStatusrequiredFamilyHistoryStatus
FamilyMemberHistory.dataAbsentReasonFamilyHistoryAbsentReasonexampleFamilyHistoryAbsentReason
FamilyMemberHistory.relationshipV3 Value SetFamilyMemberexampleV3 Value SetFamilyMember
FamilyMemberHistory.genderBirth SexextensibleBirth Sex
FamilyMemberHistory.reasonCodeSNOMED CT Clinical FindingsexampleSNOMED CT Clinical Findings
FamilyMemberHistory.condition.codeCondition/Problem/Diagnosis CodesexampleCondition/Problem/Diagnosis Codes
FamilyMemberHistory.condition.outcomeCondition Outcome CodesexampleCondition Outcome Codes
.