Significant health conditions for a person related to the patient relevant in the context of care for the patient.

A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.

Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.

An Extension

The participant in the relationship who plays the role named by the relationship.

That is, if the relationship is C96572 ("Biological Father"), the relative is the father and the patient is the child.

This uses the standard Patient Record extension for compatibility with the GA4GH PedigreeRelationship profile

May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

A code specifying the status of the record of the family history of a specific family member.

This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid.

A code that identifies the status of the family history record.

The participant we are describing.

That is, if the relationship is C96572 ("Biological Father"), the patient is the child and the relative is the father.

This will either be a name or a description; e.g. "Aunt Susan", "my cousin with the red hair".

Allows greater ease in ensuring the same person is being talked about.

The role the relative fills with respect to the patient for this relationship.

relative is relationship to patient. For the sake of users, prefer to exclusively use C96572, C96580, and ITWIN for genetic relationships. All other genetic relationships can be expressed with these and inferred individuals.

ITWIN should be used for all monozygotic multiples (triplets, quadruplets, etc.) and should be present for all the directions of the relationship.

This provides an unambiguous representation of the genetic relationship that is easily convertable to and from PED files

Examples

Example 1 (triplets):

A,B,C are triplets. You need six NcpiFamilyRelationship resources:

• A→B
• B→A
• A→C
• C→A
• B→C
• C→B.

Example 2 (twins):

If X and Y are twins, you need two NcpiFamilyRelationship resources:

• X→Y
• Y→X.

Example 3 (maternal grandchild):

If Q is the maternal grandchild of the female R but Q's parent is outside the dataset, then you need to make an inferred Patient resource D and make two NcpiFamilyRelationship resources:

• D-(Biological Mother)→Q
• R-(Biological Mother)→D.

The birth sex of the family member.

This element should ideally reflect whether the individual is genetically male or female. However, as reported information based on the knowledge of the patient or reporting friend/relative, there may be situations where the reported sex might not be totally accurate. E.g. 'Aunt Sue' might be XY rather than XX. Questions soliciting this information should be phrased to encourage capture of genetic sex where known. However, systems performing analysis should also allow for the possibility of imprecision with this element.

Codes describing the sex assigned at birth as documented on the birth registration.

Not all relationship codes imply sex and the relative's sex can be relevant for risk assessments.

The actual or approximate date of birth of the relative.

Allows calculation of the relative's age.

The age of the relative at the time the family member history is recorded.

use estimatedAge to indicate whether the age is actual or not.

While age can be calculated from date of birth, sometimes recording age directly is more natural for clinicians.

If true, indicates that the age value specified is an estimated value.

This element is labeled as a modifier because the fact that age is estimated can/should change the results of any algorithm that calculates based on the specified age.

Clinicians often prefer to specify an estimaged age rather than an age range.

Deceased flag or the actual or approximate age of the relative at the time of death for the family member history record.

Describes why the family member history occurred in coded or textual form.

Textual reasons can be captured using reasonCode.text.

Codes indicating why the family member history was done.

Indicates a Condition, Observation, AllergyIntolerance, or QuestionnaireResponse that justifies this family member history event.

The significant Conditions (or condition) that the family member had. This is a repeating section to allow a system to represent more than one condition per resource, though there is nothing stopping multiple resources - one per condition.

The participant in the relationship who plays the role named by the relationship.

That is, if the relationship is C96572 ("Biological Father"), the relative is the father and the patient is the child.

This uses the standard Patient Record extension for compatibility with the GA4GH PedigreeRelationship profile

The participant we are describing.

That is, if the relationship is C96572 ("Biological Father"), the patient is the child and the relative is the father.

The role the relative fills with respect to the patient for this relationship.

relative is relationship to patient. For the sake of users, prefer to exclusively use C96572, C96580, and ITWIN for genetic relationships. All other genetic relationships can be expressed with these and inferred individuals.

ITWIN should be used for all monozygotic multiples (triplets, quadruplets, etc.) and should be present for all the directions of the relationship.

This provides an unambiguous representation of the genetic relationship that is easily convertable to and from PED files

Examples

Example 1 (triplets):

A,B,C are triplets. You need six NcpiFamilyRelationship resources:

• A→B
• B→A
• A→C
• C→A
• B→C
• C→B.

Example 2 (twins):

If X and Y are twins, you need two NcpiFamilyRelationship resources:

• X→Y
• Y→X.

Example 3 (maternal grandchild):

If Q is the maternal grandchild of the female R but Q's parent is outside the dataset, then you need to make an inferred Patient resource D and make two NcpiFamilyRelationship resources:

• D-(Biological Mother)→Q
• R-(Biological Mother)→D.

Significant health conditions for a person related to the patient relevant in the context of care for the patient.

The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes.

The only time that a resource does not have an id is when it is being submitted to the server using a create operation.

The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource.

A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc.

Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.

The base language in which the resource is written.

Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute).

A human language.

A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.

Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later.

These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.

This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels.

An Extension

The participant in the relationship who plays the role named by the relationship.

That is, if the relationship is C96572 ("Biological Father"), the relative is the father and the patient is the child.

This uses the standard Patient Record extension for compatibility with the GA4GH PedigreeRelationship profile

May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions.

Business identifiers assigned to this family member history by the performer or other systems which remain constant as the resource is updated and propagates from server to server.

This is a business identifier, not a resource identifier (see discussion). It is best practice for the identifier to only appear on a single resource instance, however business practices may occasionally dictate that multiple resource instances with the same identifier can exist - possibly even with different resource types. For example, multiple Patient and a Person resource instance might share the same social insurance number.

Allows identification of the family member history as it is known by various participating systems and in a way that remains consistent across servers.

The URL pointing to a FHIR-defined protocol, guideline, orderset or other definition that is adhered to in whole or in part by this FamilyMemberHistory.

The URL pointing to an externally maintained protocol, guideline, orderset or other definition that is adhered to in whole or in part by this FamilyMemberHistory.

This might be an HTML page, PDF, etc. or could just be a non-resolvable URI identifier.

A code specifying the status of the record of the family history of a specific family member.

This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid.

A code that identifies the status of the family history record.

Describes why the family member's history is not available.

Codes describing the reason why a family member's history is not available.

This is a separate element to allow it to have a distinct binding from reasonCode.

The participant we are describing.

That is, if the relationship is C96572 ("Biological Father"), the patient is the child and the relative is the father.

The date (and possibly time) when the family member history was recorded or last updated.

This should be captured even if the same as the date on the List aggregating the full family history.

Allows determination of how current the summary is.

This will either be a name or a description; e.g. "Aunt Susan", "my cousin with the red hair".

Allows greater ease in ensuring the same person is being talked about.

The role the relative fills with respect to the patient for this relationship.

relative is relationship to patient. For the sake of users, prefer to exclusively use C96572, C96580, and ITWIN for genetic relationships. All other genetic relationships can be expressed with these and inferred individuals.

ITWIN should be used for all monozygotic multiples (triplets, quadruplets, etc.) and should be present for all the directions of the relationship.

This provides an unambiguous representation of the genetic relationship that is easily convertable to and from PED files

Examples

Example 1 (triplets):

A,B,C are triplets. You need six NcpiFamilyRelationship resources:

• A→B
• B→A
• A→C
• C→A
• B→C
• C→B.

Example 2 (twins):

If X and Y are twins, you need two NcpiFamilyRelationship resources:

• X→Y
• Y→X.

Example 3 (maternal grandchild):

If Q is the maternal grandchild of the female R but Q's parent is outside the dataset, then you need to make an inferred Patient resource D and make two NcpiFamilyRelationship resources:

• D-(Biological Mother)→Q
• R-(Biological Mother)→D.

The birth sex of the family member.

This element should ideally reflect whether the individual is genetically male or female. However, as reported information based on the knowledge of the patient or reporting friend/relative, there may be situations where the reported sex might not be totally accurate. E.g. 'Aunt Sue' might be XY rather than XX. Questions soliciting this information should be phrased to encourage capture of genetic sex where known. However, systems performing analysis should also allow for the possibility of imprecision with this element.

Codes describing the sex assigned at birth as documented on the birth registration.

Not all relationship codes imply sex and the relative's sex can be relevant for risk assessments.

The actual or approximate date of birth of the relative.

Allows calculation of the relative's age.

The age of the relative at the time the family member history is recorded.

use estimatedAge to indicate whether the age is actual or not.

While age can be calculated from date of birth, sometimes recording age directly is more natural for clinicians.

If true, indicates that the age value specified is an estimated value.

This element is labeled as a modifier because the fact that age is estimated can/should change the results of any algorithm that calculates based on the specified age.

Clinicians often prefer to specify an estimaged age rather than an age range.

Deceased flag or the actual or approximate age of the relative at the time of death for the family member history record.

Describes why the family member history occurred in coded or textual form.

Textual reasons can be captured using reasonCode.text.

Codes indicating why the family member history was done.

Indicates a Condition, Observation, AllergyIntolerance, or QuestionnaireResponse that justifies this family member history event.

This property allows a non condition-specific note to the made about the related person. Ideally, the note would be in the condition property, but this is not always possible.

The significant Conditions (or condition) that the family member had. This is a repeating section to allow a system to represent more than one condition per resource, though there is nothing stopping multiple resources - one per condition.