2nd DSTU Draft For Comment

This page is part of the FHIR Specification (v0.4.0: DSTU 2 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

Profile: GeneticPedigreeFamilyHistory

The official URL for this profile is: 

http://hl7.org/fhir/Profile/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 : Family history for genetics analysis

This profile was published on Wed, Oct 2, 2013 00:00+1000 as a draft by HL7 International - Clinical Genomics WG.

unable to summarise extension (wrong count)

Formal Views of Profile Content

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

Differential View

This structure is derived from FamilyHistory.

NameFlagsCard.TypeDescription & Constraintsdoco
.. FamilyHistory 1..1
... patient 1..1Patient
... note 0..1string
... relation S1..*
.... name 0..1string
.... relationship S1..1CodeableConcept
.... born[x] S0..1Period, date, string
.... deceased[x] S0..1boolean, Age, Range, string
.... note 0..1string
.... condition S0..*
..... type S1..1CodeableConcept
..... outcome S0..1CodeableConcept
..... onset[x] S0..1Age, Range, string
..... note 0..1string
.... genetics-relationParent S0..*Mother(s) & Father(s) - genetic & other
..... extension S1..1CodeableConcept
..... extension S1..1uri
.... genetics-relationObservation 0..*ObservationGenetic markers, ethnicity, etc.

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. FamilyHistory 1..1Information about patient's relatives, relevant for patient
... id 0..1idLogical id of this artefact
... meta 0..1MetaMetadata about the resource
... implicitRules M0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: Language (required, not extensible)
... 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
.... id 0..1idxml:id (or equivalent in JSON)
.... genetics-relationParent S0..*Additional Content defined by implementations
..... id 0..1idxml:id (or equivalent in JSON)
..... extension S1..1CodeableConceptAdditional Content defined by implementations
..... extension S1..1uriAdditional Content defined by implementations
..... url 1..1uriidentifies the meaning of the extension
..... value[x] 0..1*Value of extension
.... genetics-relationObservation 0..*ObservationAdditional Content defined by implementations
.... modifierExtension 0..*ExtensionExtensions that cannot be ignored
.... name Σ0..1stringThe family member described
.... relationship S Σ1..1CodeableConceptRelationship to the subject
Binding: FamilialRelationship (preferred, extensible)
.... 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
..... id 0..1idxml:id (or equivalent in JSON)
..... 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 (preferred, extensible)
..... onset[x] S0..1Age, Range, stringWhen condition first manifested
..... note 0..1stringExtra information about condition

XML Template

JSON Template

todo

Differential View

This structure is derived from FamilyHistory.

NameFlagsCard.TypeDescription & Constraintsdoco
.. FamilyHistory 1..1
... patient 1..1Patient
... note 0..1string
... relation S1..*
.... name 0..1string
.... relationship S1..1CodeableConcept
.... born[x] S0..1Period, date, string
.... deceased[x] S0..1boolean, Age, Range, string
.... note 0..1string
.... condition S0..*
..... type S1..1CodeableConcept
..... outcome S0..1CodeableConcept
..... onset[x] S0..1Age, Range, string
..... note 0..1string
.... genetics-relationParent S0..*Mother(s) & Father(s) - genetic & other
..... extension S1..1CodeableConcept
..... extension S1..1uri
.... genetics-relationObservation 0..*ObservationGenetic markers, ethnicity, etc.

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. FamilyHistory 1..1Information about patient's relatives, relevant for patient
... id 0..1idLogical id of this artefact
... meta 0..1MetaMetadata about the resource
... implicitRules M0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: Language (required, not extensible)
... 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
.... id 0..1idxml:id (or equivalent in JSON)
.... genetics-relationParent S0..*Additional Content defined by implementations
..... id 0..1idxml:id (or equivalent in JSON)
..... extension S1..1CodeableConceptAdditional Content defined by implementations
..... extension S1..1uriAdditional Content defined by implementations
..... url 1..1uriidentifies the meaning of the extension
..... value[x] 0..1*Value of extension
.... genetics-relationObservation 0..*ObservationAdditional Content defined by implementations
.... modifierExtension 0..*ExtensionExtensions that cannot be ignored
.... name Σ0..1stringThe family member described
.... relationship S Σ1..1CodeableConceptRelationship to the subject
Binding: FamilialRelationship (preferred, extensible)
.... 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
..... id 0..1idxml:id (or equivalent in JSON)
..... 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 (preferred, extensible)
..... onset[x] S0..1Age, Range, stringWhen condition first manifested
..... note 0..1stringExtra information about condition

XML Template

JSON Template

todo

 

Other definitions: (todo)

Terminology Bindings

PathNameConformanceValueSet
FamilyHistory.languageLanguagerequiredhttp://tools.ietf.org/html/bcp47
FamilyHistory.relation.relationshipFamilialRelationshippreferred (extensible)FamilyMember
FamilyHistory.relation.condition.outcomeConditionOutcomepreferred (extensible)

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')])
.