This page is part of the FHIR Specification (v0.0.82: DSTU 1). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

StructureDefinition: GeneticPedigreeFamilyHistory

The official URL for this profile is: 

http://hl7.org/fhir/StructureDefinition/family-history-genetics-geneticpedigreefamilyhistory

Adds additional information to a family 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 HL7 International - Clinical Genomics WG.

Formal Views of Profile Content

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

This structure is derived from FamilyHistory.

unable to summarise extension (wrong count)

NameFlagsCard.TypeDescription & Constraintsdoco
.. FamilyHistory 1..1FamilyHistoryInformation about patient's relatives, relevant for patient
... meta 0..1MetaMetadata about the resource
... implicitRules ?!0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: Language (required)
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension 0..*ExtensionAdditional Content defined by implementations
... modifierExtension 0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierExternal Id(s) for this record
... patient Σ1..1PatientPatient history is about
... date Σ0..1dateTimeWhen history was captured/updated
... note 0..1stringAdditional details not covered elsewhere
... relation S I1..*Relative described by history
fhs-1: Can have age[x] or birth[x], but not both
.... genetics-relationParent S0..*(Complex)Extension
..... extension S1..1CodeableConceptExtension
..... extension S1..1uriExtension
..... url 1..1uriidentifies the meaning of the extension
..... value[x] 0..1*Value of extension
.... familyhistory-gender S0..*CodeableConceptExtension
Binding: ClinicalBaseGender (extensible)
.... genetics-relationObservation 0..*ObservationExtension
.... modifierExtension 0..*ExtensionExtensions that cannot be ignored
.... name Σ0..1stringThe family member described
.... relationship S Σ1..1CodeableConceptRelationship to the subject
Binding: FamilialRelationship (required)
.... born[x] S I0..1Period, date, string(approximate) date of birth
.... age[x] I0..1Age, Range, string(approximate) age
.... deceased[x] S0..1boolean, Age, Range, stringDead? How old/when?
.... note 0..1stringGeneral note about related person
.... condition S0..*Condition that the related person had
..... extension 0..*ExtensionAdditional Content defined by implementations
..... modifierExtension 0..*ExtensionExtensions that cannot be ignored
..... type S1..1CodeableConceptCondition suffered by relation
..... outcome S0..1CodeableConceptdeceased | permanent disability | etc.
Binding: ConditionOutcome (required)
..... onset[x] S0..1Age, Range, stringWhen condition first manifested
..... note 0..1stringExtra information about condition

todo

This structure is derived from FamilyHistory.

unable to summarise extension (wrong count)

Differential View

This structure is derived from FamilyHistory.

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. FamilyHistory 1..1FamilyHistoryInformation about patient's relatives, relevant for patient
... meta 0..1MetaMetadata about the resource
... implicitRules ?!0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: Language (required)
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension 0..*ExtensionAdditional Content defined by implementations
... modifierExtension 0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierExternal Id(s) for this record
... patient Σ1..1PatientPatient history is about
... date Σ0..1dateTimeWhen history was captured/updated
... note 0..1stringAdditional details not covered elsewhere
... relation S I1..*Relative described by history
fhs-1: Can have age[x] or birth[x], but not both
.... genetics-relationParent S0..*(Complex)Extension
..... extension S1..1CodeableConceptExtension
..... extension S1..1uriExtension
..... url 1..1uriidentifies the meaning of the extension
..... value[x] 0..1*Value of extension
.... familyhistory-gender S0..*CodeableConceptExtension
Binding: ClinicalBaseGender (extensible)
.... genetics-relationObservation 0..*ObservationExtension
.... modifierExtension 0..*ExtensionExtensions that cannot be ignored
.... name Σ0..1stringThe family member described
.... relationship S Σ1..1CodeableConceptRelationship to the subject
Binding: FamilialRelationship (required)
.... born[x] S I0..1Period, date, string(approximate) date of birth
.... age[x] I0..1Age, Range, string(approximate) age
.... deceased[x] S0..1boolean, Age, Range, stringDead? How old/when?
.... note 0..1stringGeneral note about related person
.... condition S0..*Condition that the related person had
..... extension 0..*ExtensionAdditional Content defined by implementations
..... modifierExtension 0..*ExtensionExtensions that cannot be ignored
..... type S1..1CodeableConceptCondition suffered by relation
..... outcome S0..1CodeableConceptdeceased | permanent disability | etc.
Binding: ConditionOutcome (required)
..... onset[x] S0..1Age, Range, stringWhen condition first manifested
..... note 0..1stringExtra information about condition

XML Template

JSON Template

todo

 

Other representations of profile: (todo)

Terminology Bindings

PathNameConformanceValueSet
FamilyHistory.languageLanguagerequiredhttp://tools.ietf.org/html/bcp47
FamilyHistory.relation.extension
http://hl7.org/fhir/StructureDefinition/familyhistory-gender		ClinicalBaseGenderextensibleAdministrativeGender
FamilyHistory.relation.relationshipFamilialRelationshiprequiredFamilyMember
FamilyHistory.relation.condition.outcomeConditionOutcomerequired

Constraints

IdPathNameDetails
fhs-1FamilyHistory.relationAge or BirthdateCan have age[x] or birth[x], but not both
XPath: not (*[starts-with(local-name(.), 'age')] and *[starts-with(local-name(.), 'birth')])
.