GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions

• Content
• Detailed Descriptions
• Mappings
• XML
• JSON

Resource Profile: GDX Patient

The person who is the subject of the genetic/genomic report.

Usage:

• Refer to this Resource Profile: GDX Diagnostic Implication, GDX Specimen, GDX Therapeutic Implication, GDX Variant... Show 2 more, Genomic Report Profile and Genomic Service Request

Formal Views of Profile Content

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

• Differential Table
• Key Elements Table
• Snapshot Table
• Statistics/References
• All

This structure is derived from Patient

Name	Flags	Card.	Type	Description & Constraints
Patient			Patient
identifier	S	1..*	Identifier	An identifier for this patient
gender	S	0..1	code	male | female | other | unknown
birthDate	S	0..1	date	The date of birth for the individual
Documentation for this format

Name	Flags	Card.	Type	Description & Constraints
Patient		0..*	Patient	Information about an individual or animal receiving health care services dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-5: If a resource is contained in another resource, it SHALL NOT have a security label dom-6: A resource should have narrative for robust management
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created ele-1: All FHIR elements must have a @value or children
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
identifier	SΣ	1..*	Identifier	An identifier for this patient ele-1: All FHIR elements must have a @value or children
active	?!Σ	0..1	boolean	Whether this patient's record is in active use ele-1: All FHIR elements must have a @value or children
gender	SΣ	0..1	code	male | female | other | unknown Binding: AdministrativeGender (required): The gender of a person used for administrative purposes. ele-1: All FHIR elements must have a @value or children
birthDate	SΣ	0..1	date	The date of birth for the individual ele-1: All FHIR elements must have a @value or children
deceased[x]	?!Σ	0..1		Indicates if the individual is deceased or not ele-1: All FHIR elements must have a @value or children
deceasedBoolean			boolean
deceasedDateTime			dateTime
link	?!Σ	0..*	BackboneElement	Link to another patient resource that concerns the same actual person ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
other	Σ	1..1	Reference(Patient | RelatedPerson)	The other patient or related person resource that the link refers to ele-1: All FHIR elements must have a @value or children
type	Σ	1..1	code	replaced-by | replaces | refer | seealso Binding: LinkType (required): The type of link between this patient resource and another patient resource. ele-1: All FHIR elements must have a @value or children
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet	URI
Patient.gender	required	AdministrativeGender http://hl7.org/fhir/ValueSet/administrative-gender|4.0.1 from the FHIR Standard
Patient.link.type	required	LinkType http://hl7.org/fhir/ValueSet/link-type|4.0.1 from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
dom-2	error	Patient	If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty()
dom-3	error	Patient	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	Patient	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	Patient	If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty()
dom-6	best practice	Patient	A resource should have narrative for robust management : text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both : extension.exists() != value.exists()

Name	Flags	Card.	Type	Description & Constraints
Patient		0..*	Patient	Information about an individual or animal receiving health care services
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	SΣ	1..*	Identifier	An identifier for this patient
active	?!Σ	0..1	boolean	Whether this patient's record is in active use
name	Σ	0..*	HumanName	A name associated with the patient
telecom	Σ	0..*	ContactPoint	A contact detail for the individual
gender	SΣ	0..1	code	male | female | other | unknown Binding: AdministrativeGender (required): The gender of a person used for administrative purposes.
birthDate	SΣ	0..1	date	The date of birth for the individual
deceased[x]	?!Σ	0..1		Indicates if the individual is deceased or not
deceasedBoolean			boolean
deceasedDateTime			dateTime
address	Σ	0..*	Address	An address for the individual
maritalStatus		0..1	CodeableConcept	Marital (civil) status of a patient Binding: Marital Status Codes (extensible): The domestic partnership status of a person.
multipleBirth[x]		0..1		Whether patient is part of a multiple birth
multipleBirthBoolean			boolean
multipleBirthInteger			integer
photo		0..*	Attachment	Image of the patient
contact	C	0..*	BackboneElement	A contact party (e.g. guardian, partner, friend) for the patient pat-1: SHALL at least contain a contact's details or a reference to an organization
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
relationship		0..*	CodeableConcept	The kind of relationship Binding: PatientContactRelationship (extensible): The nature of the relationship between a patient and a contact person for that patient.
name		0..1	HumanName	A name associated with the contact person
telecom		0..*	ContactPoint	A contact detail for the person
address		0..1	Address	Address for the contact person
gender		0..1	code	male | female | other | unknown Binding: AdministrativeGender (required): The gender of a person used for administrative purposes.
organization	C	0..1	Reference(Organization)	Organization that is associated with the contact
period		0..1	Period	The period during which this contact person or organization is valid to be contacted relating to this patient
communication		0..*	BackboneElement	A language which may be used to communicate with the patient about his or her health
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
language		1..1	CodeableConcept	The language which can be used to communicate with the patient about his or her health Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
preferred		0..1	boolean	Language preference indicator
generalPractitioner		0..*	Reference(Organization | Practitioner | PractitionerRole)	Patient's nominated primary care provider
managingOrganization	Σ	0..1	Reference(Organization)	Organization that is the custodian of the patient record
link	?!Σ	0..*	BackboneElement	Link to another patient resource that concerns the same actual person
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
other	Σ	1..1	Reference(Patient | RelatedPerson)	The other patient or related person resource that the link refers to
type	Σ	1..1	code	replaced-by | replaces | refer | seealso Binding: LinkType (required): The type of link between this patient resource and another patient resource.
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet	URI
Patient.language	preferred	CommonLanguages http://hl7.org/fhir/ValueSet/languages from the FHIR Standard Additional Bindings Purpose AllLanguages Max Binding
Patient.gender	required	AdministrativeGender http://hl7.org/fhir/ValueSet/administrative-gender|4.0.1 from the FHIR Standard
Patient.maritalStatus	extensible	Marital Status Codes http://hl7.org/fhir/ValueSet/marital-status from the FHIR Standard
Patient.contact.relationship	extensible	PatientContactRelationship http://hl7.org/fhir/ValueSet/patient-contactrelationship from the FHIR Standard
Patient.contact.gender	required	AdministrativeGender http://hl7.org/fhir/ValueSet/administrative-gender|4.0.1 from the FHIR Standard
Patient.communication.language	preferred	CommonLanguages http://hl7.org/fhir/ValueSet/languages from the FHIR Standard Additional Bindings Purpose AllLanguages Max Binding
Patient.link.type	required	LinkType http://hl7.org/fhir/ValueSet/link-type|4.0.1 from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
dom-2	error	Patient	If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty()
dom-3	error	Patient	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	Patient	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	Patient	If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty()
dom-6	best practice	Patient	A resource should have narrative for robust management : text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both : extension.exists() != value.exists()
pat-1	error	Patient.contact	SHALL at least contain a contact's details or a reference to an organization : name.exists() or telecom.exists() or address.exists() or organization.exists()

This structure is derived from Patient

Summary

Mandatory: 1 element
Must-Support: 3 elements

Differential View

This structure is derived from Patient

Name	Flags	Card.	Type	Description & Constraints
Patient			Patient
identifier	S	1..*	Identifier	An identifier for this patient
gender	S	0..1	code	male | female | other | unknown
birthDate	S	0..1	date	The date of birth for the individual
Documentation for this format

Key Elements View

Name	Flags	Card.	Type	Description & Constraints
Patient		0..*	Patient	Information about an individual or animal receiving health care services dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-5: If a resource is contained in another resource, it SHALL NOT have a security label dom-6: A resource should have narrative for robust management
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created ele-1: All FHIR elements must have a @value or children
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
identifier	SΣ	1..*	Identifier	An identifier for this patient ele-1: All FHIR elements must have a @value or children
active	?!Σ	0..1	boolean	Whether this patient's record is in active use ele-1: All FHIR elements must have a @value or children
gender	SΣ	0..1	code	male | female | other | unknown Binding: AdministrativeGender (required): The gender of a person used for administrative purposes. ele-1: All FHIR elements must have a @value or children
birthDate	SΣ	0..1	date	The date of birth for the individual ele-1: All FHIR elements must have a @value or children
deceased[x]	?!Σ	0..1		Indicates if the individual is deceased or not ele-1: All FHIR elements must have a @value or children
deceasedBoolean			boolean
deceasedDateTime			dateTime
link	?!Σ	0..*	BackboneElement	Link to another patient resource that concerns the same actual person ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
other	Σ	1..1	Reference(Patient | RelatedPerson)	The other patient or related person resource that the link refers to ele-1: All FHIR elements must have a @value or children
type	Σ	1..1	code	replaced-by | replaces | refer | seealso Binding: LinkType (required): The type of link between this patient resource and another patient resource. ele-1: All FHIR elements must have a @value or children
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet	URI
Patient.gender	required	AdministrativeGender http://hl7.org/fhir/ValueSet/administrative-gender|4.0.1 from the FHIR Standard
Patient.link.type	required	LinkType http://hl7.org/fhir/ValueSet/link-type|4.0.1 from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
dom-2	error	Patient	If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty()
dom-3	error	Patient	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	Patient	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	Patient	If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty()
dom-6	best practice	Patient	A resource should have narrative for robust management : text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both : extension.exists() != value.exists()

Snapshot View

Name	Flags	Card.	Type	Description & Constraints
Patient		0..*	Patient	Information about an individual or animal receiving health care services
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	SΣ	1..*	Identifier	An identifier for this patient
active	?!Σ	0..1	boolean	Whether this patient's record is in active use
name	Σ	0..*	HumanName	A name associated with the patient
telecom	Σ	0..*	ContactPoint	A contact detail for the individual
gender	SΣ	0..1	code	male | female | other | unknown Binding: AdministrativeGender (required): The gender of a person used for administrative purposes.
birthDate	SΣ	0..1	date	The date of birth for the individual
deceased[x]	?!Σ	0..1		Indicates if the individual is deceased or not
deceasedBoolean			boolean
deceasedDateTime			dateTime
address	Σ	0..*	Address	An address for the individual
maritalStatus		0..1	CodeableConcept	Marital (civil) status of a patient Binding: Marital Status Codes (extensible): The domestic partnership status of a person.
multipleBirth[x]		0..1		Whether patient is part of a multiple birth
multipleBirthBoolean			boolean
multipleBirthInteger			integer
photo		0..*	Attachment	Image of the patient
contact	C	0..*	BackboneElement	A contact party (e.g. guardian, partner, friend) for the patient pat-1: SHALL at least contain a contact's details or a reference to an organization
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
relationship		0..*	CodeableConcept	The kind of relationship Binding: PatientContactRelationship (extensible): The nature of the relationship between a patient and a contact person for that patient.
name		0..1	HumanName	A name associated with the contact person
telecom		0..*	ContactPoint	A contact detail for the person
address		0..1	Address	Address for the contact person
gender		0..1	code	male | female | other | unknown Binding: AdministrativeGender (required): The gender of a person used for administrative purposes.
organization	C	0..1	Reference(Organization)	Organization that is associated with the contact
period		0..1	Period	The period during which this contact person or organization is valid to be contacted relating to this patient
communication		0..*	BackboneElement	A language which may be used to communicate with the patient about his or her health
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
language		1..1	CodeableConcept	The language which can be used to communicate with the patient about his or her health Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
preferred		0..1	boolean	Language preference indicator
generalPractitioner		0..*	Reference(Organization | Practitioner | PractitionerRole)	Patient's nominated primary care provider
managingOrganization	Σ	0..1	Reference(Organization)	Organization that is the custodian of the patient record
link	?!Σ	0..*	BackboneElement	Link to another patient resource that concerns the same actual person
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
other	Σ	1..1	Reference(Patient | RelatedPerson)	The other patient or related person resource that the link refers to
type	Σ	1..1	code	replaced-by | replaces | refer | seealso Binding: LinkType (required): The type of link between this patient resource and another patient resource.
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet	URI
Patient.language	preferred	CommonLanguages http://hl7.org/fhir/ValueSet/languages from the FHIR Standard Additional Bindings Purpose AllLanguages Max Binding
Patient.gender	required	AdministrativeGender http://hl7.org/fhir/ValueSet/administrative-gender|4.0.1 from the FHIR Standard
Patient.maritalStatus	extensible	Marital Status Codes http://hl7.org/fhir/ValueSet/marital-status from the FHIR Standard
Patient.contact.relationship	extensible	PatientContactRelationship http://hl7.org/fhir/ValueSet/patient-contactrelationship from the FHIR Standard
Patient.contact.gender	required	AdministrativeGender http://hl7.org/fhir/ValueSet/administrative-gender|4.0.1 from the FHIR Standard
Patient.communication.language	preferred	CommonLanguages http://hl7.org/fhir/ValueSet/languages from the FHIR Standard Additional Bindings Purpose AllLanguages Max Binding
Patient.link.type	required	LinkType http://hl7.org/fhir/ValueSet/link-type|4.0.1 from the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
dom-2	error	Patient	If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty()
dom-3	error	Patient	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	Patient	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	Patient	If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty()
dom-6	best practice	Patient	A resource should have narrative for robust management : text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both : extension.exists() != value.exists()
pat-1	error	Patient.contact	SHALL at least contain a contact's details or a reference to an organization : name.exists() or telecom.exists() or address.exists() or organization.exists()

This structure is derived from Patient

Summary

Mandatory: 1 element
Must-Support: 3 elements

Other representations of profile: CSV, Excel, Schematron