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page
is
part
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Specification
(v3.0.2:
(v4.0.1:
R4
-
Mixed
Normative
and
STU
3).
)
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it's
permanent
home
(it
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be
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at
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URL).
The
current
version
which
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is
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.
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see
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Directory
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versions
.
Page
versions:
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R4B
R4
R3
R4
R3
R2
Work
Group
|
Maturity Level : 1 |
|
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).
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
|
|---|---|---|---|---|
|
|
0..* | ||
|
S | 0..* | (Complex) |
Mother(s)
&
Father(s)
-
genetic
&
other
|
|
S | 0..* | (Complex) |
natural
brother(s)
&
natural
sister(s)
-
genetic
&
other
|
|
|
0..* | Reference ( Observation ) |
Genetic
markers,
ethnicity,
etc.
URL: |
|
S | 1..1 |
|
|
|
S
|
0..1 | CodeableConcept | |
|
S | 0..1 |
|
|
|
|
Period
|
||
|
date
|
|||
|
string | |||
|
S | 0..1 |
|
|
|
Age
|
|||
|
Range
|
|
||
|
string | |||
|
S | 0..1 |
|
|
|
|
boolean | ||
|
|
Age |
|
|
|
|
Range | ||
|
|
date |
|
|
|
|
string | ||
|
S | 0..* |
|
|
|
S
|
1..1 | CodeableConcept | |
|
|
0..1 | CodeableConcept | |
|
S | 0..1 |
|
|
|
|
|
Age | |
|
|
Range |
|
|
|
|
|
Period | |
|
|
|
||
|
|
0..1 | Annotation | |
Documentation
for
this
format
|
||||
| Name | Flags | Card. | Type |
Description
&
Constraints
|
|---|---|---|---|---|
|
I | 0..* |
Information
about
patient's
relatives,
relevant
for
patient
|
|
|
Σ | 0..1 |
|
Logical id of this artifact |
|
Σ I | 0..1 | Meta | Metadata about the resource |
|
?! Σ I | 0..1 | uri | A set of rules under which this content was created |
|
I | 0..1 | code |
Language
of
the
resource
content
Binding: Common Languages ( Max Binding: All Languages |
|
I | 0..1 | Narrative | Text summary of the resource, for human interpretation |
|
0..* | Resource |
Contained,
inline
Resources
|
|
| I | 0..* | Extension |
Extension
Slice: Unordered, Open by value:url |
|
S I | 0..* | (Complex) |
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent |
|
S I | 0..* | (Complex) |
natural
brother(s)
&
natural
sister(s)
-
genetic
&
other
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling |
|
S I | 0..* | Reference ( Observation ) |
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation |
|
?! I | 0..* | Extension |
Extensions
that
cannot
be
ignored
|
|
Σ I | 0..* | Identifier |
External
Id(s)
for
this
record
|
|
Σ I | 0..* |
|
Instantiates
FHIR
protocol
or
definition
|
|
|
|
|
|
|
?! Σ I | 1..1 |
|
partial
|
completed
|
entered-in-error
|
health-unknown
Binding: FamilyHistoryStatus ( required ) |
|
Σ I | 0..1 | CodeableConcept |
subject-unknown
|
withheld
|
unable-to-obtain
|
deferred
Binding: |
|
Σ I | 1..1 | Reference ( Patient ) | Patient history is about |
|
Σ I | 0..1 | dateTime |
When
history
was
|
|
Σ I | 0..1 | string | The family member described |
|
S Σ I | 1..1 | CodeableConcept |
Relationship
to
the
subject
Binding: FamilyMember ( example ) |
|
S Σ I | 0..1 |
|
male
|
female
|
other
|
unknown
Binding: AdministrativeGender ( |
|
S I | 0..1 | (approximate) date of birth | |
![]() ![]() ![]() |
Period
|
|||
|
date
|
|||
| string | |||
|
S Σ I | 0..1 | (approximate) age | |
![]() ![]() ![]() |
Age
|
|||
|
Range
|
|||
| string | |||
|
|
0..1 | boolean | Age is estimated? |
|
S Σ I | 0..1 | Dead? How old/when? | |
![]() ![]() ![]() |
boolean
|
|||
|
Age
|
|||
|
Range
|
|||
|
date
|
|||
| string |
|
||
|
Σ I | 0..* | CodeableConcept |
Why
was
family
member
history
performed?
Binding: SNOMED CT Clinical Findings ( example ) |
|
Σ I | 0..* |
Reference
(
Condition
|
Why
was
family
member
history
performed?
|
|
I | 0..* | Annotation |
General
note
about
related
person
|
|
S I | 0..* | BackboneElement |
Condition
that
the
related
person
had
|
|
0..1 | string | Unique id for inter-element referencing | |
|
I | 0..* | Extension |
Additional
|
|
?! Σ I | 0..* | Extension |
Extensions
that
cannot
be
ignored
even
if
unrecognized
|
|
S I | 1..1 | CodeableConcept |
Condition
suffered
by
relation
Binding: Condition/Problem/Diagnosis Codes ( example ) |
|
S I | 0..1 | CodeableConcept |
deceased
|
permanent
disability
|
etc.
Binding: Condition Outcome Codes ( example ) |
| I | 0..1 | boolean | Whether the condition contributed to the cause of death |
![]() ![]() ![]() |
S I | 0..1 | When condition first manifested | |
![]() ![]() ![]() ![]() |
Age
|
|||
|
Range
|
|||
|
Period
|
|||
| string | |||
|
I | 0..1 | Annotation |
Extra
information
about
condition
|
Documentation
for
this
format
|
||||
<!-- Family member history for genetics analysis -->![]()
< xmlns="http://hl7.org/fhir"<FamilyMemberHistory xmlns="http://hl7.org/fhir" > <!-- from Element: extension -->< <</meta> < < <<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> <<modifierExtension><!--0..* Extension Extensions that cannot be ignored --></modifierExtension> <identifier><!--
0..* Identifier External Id(s) for this record --></identifier>
< Instantiates protocol or definition</definition> < < <</notDoneReason> <<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>
< < <</relationship> < <<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> <)| </reasonReference> <<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> <</code> <</outcome> <<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 .
Differential View
This structure is derived from FamilyMemberHistory .
| Name | Flags | Card. | Type |
Description
&
Constraints
|
|---|---|---|---|---|
|
|
0..* | ||
|
S | 0..* | (Complex) |
Mother(s)
&
Father(s)
-
genetic
&
other
|
|
S | 0..* | (Complex) |
natural
brother(s)
&
natural
sister(s)
-
genetic
&
other
|
|
|
0..* | Reference ( Observation ) |
Genetic
markers,
ethnicity,
etc.
URL: |
|
S | 1..1 |
|
|
|
S
|
0..1 | CodeableConcept | |
|
S | 0..1 |
|
|
|
|
Period
|
||
|
date
|
|||
|
string | |||
|
S | 0..1 |
|
|
|
Age
|
|||
|
Range
|
|
||
|
string | |||
|
S | 0..1 |
|
|
|
|
boolean | ||
|
|
Age |
|
|
|
|
Range | ||
|
|
date |
|
|
|
|
string | ||
|
S | 0..* |
|
|
|
S
|
1..1 | CodeableConcept | |
|
|
0..1 | CodeableConcept | |
|
S | 0..1 |
|
|
|
|
|
Age | |
|
|
Range |
|
|
|
|
|
Period | |
|
|
|
||
|
|
0..1 | Annotation | |
Documentation
for
this
format
|
||||
Snapshot View
| Name | Flags | Card. | Type |
Description
&
Constraints
|
|---|---|---|---|---|
|
I | 0..* |
Information
about
patient's
relatives,
relevant
for
patient
|
|
|
Σ | 0..1 |
|
Logical id of this artifact |
|
Σ I | 0..1 | Meta | Metadata about the resource |
|
?! Σ I | 0..1 | uri | A set of rules under which this content was created |
|
I | 0..1 | code |
Language
of
the
resource
content
Binding: Common Languages ( Max Binding: All Languages |
|
I | 0..1 | Narrative | Text summary of the resource, for human interpretation |
|
0..* | Resource |
Contained,
inline
Resources
|
|
| I | 0..* | Extension |
Extension
Slice: Unordered, Open by value:url |
|
S I | 0..* | (Complex) |
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-parent |
|
S I | 0..* | (Complex) |
natural
brother(s)
&
natural
sister(s)
-
genetic
&
other
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-sibling |
|
S I | 0..* | Reference ( Observation ) |
URL: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation |
|
?! I | 0..* | Extension |
Extensions
that
cannot
be
ignored
|
|
Σ I | 0..* | Identifier |
External
Id(s)
for
this
record
|
|
Σ I | 0..* |
|
Instantiates
FHIR
protocol
or
definition
|
|
|
|
|
|
|
?! Σ I | 1..1 |
|
partial
|
completed
|
entered-in-error
|
health-unknown
Binding: FamilyHistoryStatus ( required ) |
|
Σ I | 0..1 | CodeableConcept |
subject-unknown
|
withheld
|
unable-to-obtain
|
deferred
Binding: |
|
Σ I | 1..1 | Reference ( Patient ) | Patient history is about |
|
Σ I | 0..1 | dateTime |
When
history
was
|
|
Σ I | 0..1 | string | The family member described |
|
S Σ I | 1..1 | CodeableConcept |
Relationship
to
the
subject
Binding: FamilyMember ( example ) |
|
S Σ I | 0..1 |
|
male
|
female
|
other
|
unknown
Binding: AdministrativeGender ( |
|
S I | 0..1 | (approximate) date of birth | |
![]() ![]() ![]() |
Period
|
|||
|
date
|
|||
| string | |||
|
S Σ I | 0..1 | (approximate) age | |
![]() ![]() ![]() |
Age
|
|||
|
Range
|
|||
| string | |||
|
|
0..1 | boolean | Age is estimated? |
|
S Σ I | 0..1 | Dead? How old/when? | |
![]() ![]() ![]() |
boolean
|
|||
|
Age
|
|||
|
Range
|
|||
|
date
|
|||
| string |
|
||
|
Σ I | 0..* | CodeableConcept |
Why
was
family
member
history
performed?
Binding: SNOMED CT Clinical Findings ( example ) |
|
Σ I | 0..* |
Reference
(
Condition
|
Why
was
family
member
history
performed?
|
|
I | 0..* | Annotation |
General
note
about
related
person
|
|
S I | 0..* | BackboneElement |
Condition
that
the
related
person
had
|
|
0..1 | string | Unique id for inter-element referencing | |
|
I | 0..* | Extension |
Additional
|
|
?! Σ I | 0..* | Extension |
Extensions
that
cannot
be
ignored
even
if
unrecognized
|
|
S I | 1..1 | CodeableConcept |
Condition
suffered
by
relation
Binding: Condition/Problem/Diagnosis Codes ( example ) |
|
S I | 0..1 | CodeableConcept |
deceased
|
permanent
disability
|
etc.
Binding: Condition Outcome Codes ( example ) |
| I | 0..1 | boolean | Whether the condition contributed to the cause of death |
![]() ![]() ![]() |
S I | 0..1 | When condition first manifested | |
![]() ![]() ![]() ![]() |
Age
|
|||
|
Range
|
|||
|
Period
|
|||
| string | |||
|
I | 0..1 | Annotation |
Extra
information
about
condition
|
Documentation
for
this
format
|
||||
XML Template
<!-- Family member history for genetics analysis -->![]()
< xmlns="http://hl7.org/fhir"<FamilyMemberHistory xmlns="http://hl7.org/fhir" > <!-- from Element: extension -->< <</meta> < < <<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> <<modifierExtension><!--0..* Extension Extensions that cannot be ignored --></modifierExtension> <identifier><!--
0..* Identifier External Id(s) for this record --></identifier>
< Instantiates protocol or definition</definition> < < <</notDoneReason> <<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>
< < <</relationship> < <<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> <)| </reasonReference> <<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> <</code> <</outcome> <<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
}
Other
representations
of
profile:
Alternate
definitions:
Master
Definition
(
XML
,
JSON
),
Schematron
| Path | Name | Conformance | ValueSet |
| FamilyMemberHistory.language | Common Languages |
|
Common Languages |
| FamilyMemberHistory.status | FamilyHistoryStatus | required | FamilyHistoryStatus |
|
|
|
example |
|
| FamilyMemberHistory.relationship |
|
example |
|
|
|
AdministrativeGender |
|
AdministrativeGender |
| FamilyMemberHistory.reasonCode | 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 |