A family (pedigree) tested together, e.g. a Distributed WGS (dWGS) Singleton, Duo or Trio. The group is identified by its Pedigree Number (also known as Family Id) and/or, for dWGS, the NGIS referral_id from TOMS. Either can be carried on each family member's order as its Order Group Number (ServiceRequest.requisition, HL7 v2 ORC-4 Placer Group Number). Neither is a patient identifier.

A family (pedigree) whose members are tested together, for example a Distributed WGS (dWGS) Singleton, Duo or Trio.

Ubiquitous terms: Pedigree, Family, Kindred.

Pedigree Number (Family Id)

The group is identified by its Pedigree Number, also known as Family Id. It is not a patient identifier: each family member is ordered separately, and every one of those orders carries the Pedigree Number as its Order Group Number. For dWGS the family can also (or instead) be identified by the NGIS referral_id from TOMS, which can likewise be used as the Order Group Number.

Members

Each member is a Patient - the proband and each family member tested with them.

Each member's role in the family - their relationship to the proband (mother, father, son, daughter, …) - is given by the Family Member Relationship extension, coded from the RelatedPerson Relationship Type value set (e.g. MTH, FTH, SON, DAU). The proband is ONESELF.

Alongside it, the Family Member History Reference extension can point to that member's FamilyMemberHistory.

graph LR
    G[FamilyGeneticGroup<br/>Pedigree Number] -->|member<br/>ONESELF| P[Patient<br/>Proband]
    G -->|member<br/>e.g. MTH| R[Patient<br/>Family Member]
    SP[ServiceRequest<br/>Proband] -->|requisition| G
    SR[ServiceRequest<br/>Family Member] -->|requisition| G

The requisition arrows show the shared identifier value, not a FHIR reference.

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

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Group	C	0..*	Group	Group of multiple entities Constraints: grp-1
Group.implicitRules	?! This element is a modifier element. Σ This element is included in summaries.	0..1	uri	A set of rules under which this content was created
Group.modifierExtension	?! This element is a modifier element.	0..*	Extension	Extensions that cannot be ignored
Group.Slices for identifier	S This element must be supported. Σ This element is included in summaries.	1..*	Identifier	Unique id Slice: Unordered, Open by value:system Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them
Group.Slices for identifier.identifier:PedigreeNumber	S This element must be supported. Σ This element is included in summaries.	0..1	GenomicsPedigreeNumber	Pedigree Number (Family Id)
Group.Slices for identifier.identifier:ReferralId	S This element must be supported. Σ This element is included in summaries.	0..*	NGISReferralId	NGIS Referral Id (referral_id from TOMS)
Group.type	Σ This element is included in summaries.	1..1	code	person | animal | practitioner | device | medication | substance Binding: GroupType (required): Types of resources that are part of group. Fixed Value: person (no extensions allowed)
Group.actual	Σ This element is included in summaries. C	1..1	boolean	Descriptive or actual Fixed Value: true (no extensions allowed)
Group.code	S This element must be supported. Σ This element is included in summaries.	0..1	CodeableConcept	Family Structure: Singleton, Duo or Trio Binding: Family Structure (extensible)
Group.member	S This element must be supported. C	0..*	BackboneElement	Who or what is in group
Group.member.Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
Group.member.Slices for extension.extension:relationship	S This element must be supported.	1..1	CodeableConcept	Role of the patient in the family: mother, father, son, daughter, ... (the proband is ONESELF) URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberRelationship Binding: PatientRelationshipType (required)
Group.member.Slices for extension.extension:familyMemberHistory	S This element must be supported.	0..1	Reference(FamilyMemberHistory)	Family history of this member, relative to the proband URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberHistoryReference
Group.member.modifierExtension	?! This element is a modifier element. Σ This element is included in summaries.	0..*	Extension	Extensions that cannot be ignored even if unrecognized
Group.member.entity		1..1	Reference(Patient)	Family member (Patient)
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Group.type	Base	required	GroupType	📍4.0.1	FHIR Std.
Group.code	Base	extensible	Family Structure	📦2.2.5	This IG

Constraints

Id

Grade

Path(s)

Description

Expression

This structure is derived from Group

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Group		0..*	Group	Group of multiple entities
Group.Slices for identifier	S This element must be supported.	1..*	Identifier	Unique id Slice: Unordered, Open by value:system Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them
Group.Slices for identifier.identifier:PedigreeNumber	S This element must be supported.	0..1	GenomicsPedigreeNumber	Pedigree Number (Family Id)
Group.Slices for identifier.identifier:ReferralId	S This element must be supported.	0..*	NGISReferralId	NGIS Referral Id (referral_id from TOMS)
Group.type		1..1	code	person | animal | practitioner | device | medication | substance Fixed Value: person (no extensions allowed)
Group.actual		1..1	boolean	Descriptive or actual Fixed Value: true (no extensions allowed)
Group.code	S This element must be supported.	0..1	CodeableConcept	Family Structure: Singleton, Duo or Trio Binding: Family Structure (extensible)
Group.member	S This element must be supported.	0..*	BackboneElement	Who or what is in group
Group.member.Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
Group.member.Slices for extension.extension:relationship	S This element must be supported.	1..1	CodeableConcept	Role of the patient in the family: mother, father, son, daughter, ... (the proband is ONESELF) URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberRelationship Binding: PatientRelationshipType (required)
Group.member.Slices for extension.extension:familyMemberHistory	S This element must be supported.	0..1	Reference(FamilyMemberHistory)	Family history of this member, relative to the proband URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberHistoryReference
Group.member.entity		1..1	Reference(Patient)	Family member (Patient)
Documentation for this format

Terminology Bindings (Differential)

Path	Status	Usage	ValueSet	Version	Source
Group.code	Base	extensible	Family Structure	📦2.2.5	This IG

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Group	C	0..*	Group	Group of multiple entities Constraints: grp-1
Group.id	Σ This element is included in summaries.	0..1	id	Logical id of this artifact
Group.meta	Σ This element is included in summaries.	0..1	Meta	Metadata about the resource
Group.implicitRules	?! This element is a modifier element. Σ This element is included in summaries.	0..1	uri	A set of rules under which this content was created
Group.language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
Group.text		0..1	Narrative	Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
Group.contained		0..*	Resource	Contained, inline Resources
Group.extension		0..*	Extension	Additional content defined by implementations
Group.modifierExtension	?! This element is a modifier element.	0..*	Extension	Extensions that cannot be ignored
Group.Slices for identifier	S This element must be supported. Σ This element is included in summaries.	1..*	Identifier	Unique id Slice: Unordered, Open by value:system Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them
Group.Slices for identifier.identifier:PedigreeNumber	S This element must be supported. Σ This element is included in summaries.	0..1	GenomicsPedigreeNumber	Pedigree Number (Family Id)
Group.Slices for identifier.identifier:ReferralId	S This element must be supported. Σ This element is included in summaries.	0..*	NGISReferralId	NGIS Referral Id (referral_id from TOMS)
Group.active	Σ This element is included in summaries.	0..1	boolean	Whether this group's record is in active use
Group.type	Σ This element is included in summaries.	1..1	code	person | animal | practitioner | device | medication | substance Binding: GroupType (required): Types of resources that are part of group. Fixed Value: person (no extensions allowed)
Group.actual	Σ This element is included in summaries. C	1..1	boolean	Descriptive or actual Fixed Value: true (no extensions allowed)
Group.code	S This element must be supported. Σ This element is included in summaries.	0..1	CodeableConcept	Family Structure: Singleton, Duo or Trio Binding: Family Structure (extensible)
Group.name	Σ This element is included in summaries.	0..1	string	Label for Group
Group.quantity	Σ This element is included in summaries.	0..1	unsignedInt	Number of members
Group.managingEntity	Σ This element is included in summaries.	0..1	Reference(Organization | RelatedPerson | Practitioner | PractitionerRole)	Entity that is the custodian of the Group's definition
Group.characteristic		0..*	BackboneElement	Include / Exclude group members by Trait
Group.characteristic.id		0..1	string	Unique id for inter-element referencing
Group.characteristic.extension		0..*	Extension	Additional content defined by implementations
Group.characteristic.modifierExtension	?! This element is a modifier element. Σ This element is included in summaries.	0..*	Extension	Extensions that cannot be ignored even if unrecognized
Group.characteristic.code		1..1	CodeableConcept	Kind of characteristic Binding Description: (example): List of characteristics used to describe group members; e.g. gender, age, owner, location, etc.
Group.characteristic.value[x]		1..1		Value held by characteristic Binding Description: (example): Value of descriptive member characteristic; e.g. red, male, pneumonia, Caucasian, etc.
Group.characteristic.value[x].valueCodeableConcept			CodeableConcept
Group.characteristic.value[x].valueBoolean			boolean
Group.characteristic.value[x].valueQuantity			Quantity
Group.characteristic.value[x].valueRange			Range
Group.characteristic.value[x].valueReference			Reference(Any)
Group.characteristic.exclude		1..1	boolean	Group includes or excludes
Group.characteristic.period		0..1	Period	Period over which characteristic is tested
Group.member	S This element must be supported. C	0..*	BackboneElement	Who or what is in group
Group.member.id		0..1	string	Unique id for inter-element referencing
Group.member.Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
Group.member.Slices for extension.extension:relationship	S This element must be supported.	1..1	CodeableConcept	Role of the patient in the family: mother, father, son, daughter, ... (the proband is ONESELF) URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberRelationship Binding: PatientRelationshipType (required)
Group.member.Slices for extension.extension:familyMemberHistory	S This element must be supported.	0..1	Reference(FamilyMemberHistory)	Family history of this member, relative to the proband URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberHistoryReference
Group.member.modifierExtension	?! This element is a modifier element. Σ This element is included in summaries.	0..*	Extension	Extensions that cannot be ignored even if unrecognized
Group.member.entity		1..1	Reference(Patient)	Family member (Patient)
Group.member.period		0..1	Period	Period member belonged to the group
Group.member.inactive		0..1	boolean	If member is no longer in group
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Group.language	Base	preferred	Common Languages	📍4.0.1	FHIR Std.
Group.type	Base	required	GroupType	📍4.0.1	FHIR Std.
Group.code	Base	extensible	Family Structure	📦2.2.5	This IG
Group.characteristic.​code	Base	example		Not State	Unknown
Group.characteristic.​value[x]	Base	example		Not State	Unknown

Constraints

Id

Grade

Path(s)

Description

Expression

Key Elements View

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Group	C	0..*	Group	Group of multiple entities Constraints: grp-1
Group.implicitRules	?! This element is a modifier element. Σ This element is included in summaries.	0..1	uri	A set of rules under which this content was created
Group.modifierExtension	?! This element is a modifier element.	0..*	Extension	Extensions that cannot be ignored
Group.Slices for identifier	S This element must be supported. Σ This element is included in summaries.	1..*	Identifier	Unique id Slice: Unordered, Open by value:system Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them
Group.Slices for identifier.identifier:PedigreeNumber	S This element must be supported. Σ This element is included in summaries.	0..1	GenomicsPedigreeNumber	Pedigree Number (Family Id)
Group.Slices for identifier.identifier:ReferralId	S This element must be supported. Σ This element is included in summaries.	0..*	NGISReferralId	NGIS Referral Id (referral_id from TOMS)
Group.type	Σ This element is included in summaries.	1..1	code	person | animal | practitioner | device | medication | substance Binding: GroupType (required): Types of resources that are part of group. Fixed Value: person (no extensions allowed)
Group.actual	Σ This element is included in summaries. C	1..1	boolean	Descriptive or actual Fixed Value: true (no extensions allowed)
Group.code	S This element must be supported. Σ This element is included in summaries.	0..1	CodeableConcept	Family Structure: Singleton, Duo or Trio Binding: Family Structure (extensible)
Group.member	S This element must be supported. C	0..*	BackboneElement	Who or what is in group
Group.member.Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
Group.member.Slices for extension.extension:relationship	S This element must be supported.	1..1	CodeableConcept	Role of the patient in the family: mother, father, son, daughter, ... (the proband is ONESELF) URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberRelationship Binding: PatientRelationshipType (required)
Group.member.Slices for extension.extension:familyMemberHistory	S This element must be supported.	0..1	Reference(FamilyMemberHistory)	Family history of this member, relative to the proband URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberHistoryReference
Group.member.modifierExtension	?! This element is a modifier element. Σ This element is included in summaries.	0..*	Extension	Extensions that cannot be ignored even if unrecognized
Group.member.entity		1..1	Reference(Patient)	Family member (Patient)
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Group.type	Base	required	GroupType	📍4.0.1	FHIR Std.
Group.code	Base	extensible	Family Structure	📦2.2.5	This IG

Constraints

Id

Grade

Path(s)

Description

Expression

Differential View

This structure is derived from Group

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Group		0..*	Group	Group of multiple entities
Group.Slices for identifier	S This element must be supported.	1..*	Identifier	Unique id Slice: Unordered, Open by value:system Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them
Group.Slices for identifier.identifier:PedigreeNumber	S This element must be supported.	0..1	GenomicsPedigreeNumber	Pedigree Number (Family Id)
Group.Slices for identifier.identifier:ReferralId	S This element must be supported.	0..*	NGISReferralId	NGIS Referral Id (referral_id from TOMS)
Group.type		1..1	code	person | animal | practitioner | device | medication | substance Fixed Value: person (no extensions allowed)
Group.actual		1..1	boolean	Descriptive or actual Fixed Value: true (no extensions allowed)
Group.code	S This element must be supported.	0..1	CodeableConcept	Family Structure: Singleton, Duo or Trio Binding: Family Structure (extensible)
Group.member	S This element must be supported.	0..*	BackboneElement	Who or what is in group
Group.member.Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
Group.member.Slices for extension.extension:relationship	S This element must be supported.	1..1	CodeableConcept	Role of the patient in the family: mother, father, son, daughter, ... (the proband is ONESELF) URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberRelationship Binding: PatientRelationshipType (required)
Group.member.Slices for extension.extension:familyMemberHistory	S This element must be supported.	0..1	Reference(FamilyMemberHistory)	Family history of this member, relative to the proband URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberHistoryReference
Group.member.entity		1..1	Reference(Patient)	Family member (Patient)
Documentation for this format

Terminology Bindings (Differential)

Path	Status	Usage	ValueSet	Version	Source
Group.code	Base	extensible	Family Structure	📦2.2.5	This IG

Snapshot ViewView

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Group	C	0..*	Group	Group of multiple entities Constraints: grp-1
Group.id	Σ This element is included in summaries.	0..1	id	Logical id of this artifact
Group.meta	Σ This element is included in summaries.	0..1	Meta	Metadata about the resource
Group.implicitRules	?! This element is a modifier element. Σ This element is included in summaries.	0..1	uri	A set of rules under which this content was created
Group.language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
Group.text		0..1	Narrative	Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
Group.contained		0..*	Resource	Contained, inline Resources
Group.extension		0..*	Extension	Additional content defined by implementations
Group.modifierExtension	?! This element is a modifier element.	0..*	Extension	Extensions that cannot be ignored
Group.Slices for identifier	S This element must be supported. Σ This element is included in summaries.	1..*	Identifier	Unique id Slice: Unordered, Open by value:system Slicing Note: The rules on this element (including its children) apply to all the slices, but are not repeated in them
Group.Slices for identifier.identifier:PedigreeNumber	S This element must be supported. Σ This element is included in summaries.	0..1	GenomicsPedigreeNumber	Pedigree Number (Family Id)
Group.Slices for identifier.identifier:ReferralId	S This element must be supported. Σ This element is included in summaries.	0..*	NGISReferralId	NGIS Referral Id (referral_id from TOMS)
Group.active	Σ This element is included in summaries.	0..1	boolean	Whether this group's record is in active use
Group.type	Σ This element is included in summaries.	1..1	code	person | animal | practitioner | device | medication | substance Binding: GroupType (required): Types of resources that are part of group. Fixed Value: person (no extensions allowed)
Group.actual	Σ This element is included in summaries. C	1..1	boolean	Descriptive or actual Fixed Value: true (no extensions allowed)
Group.code	S This element must be supported. Σ This element is included in summaries.	0..1	CodeableConcept	Family Structure: Singleton, Duo or Trio Binding: Family Structure (extensible)
Group.name	Σ This element is included in summaries.	0..1	string	Label for Group
Group.quantity	Σ This element is included in summaries.	0..1	unsignedInt	Number of members
Group.managingEntity	Σ This element is included in summaries.	0..1	Reference(Organization | RelatedPerson | Practitioner | PractitionerRole)	Entity that is the custodian of the Group's definition
Group.characteristic		0..*	BackboneElement	Include / Exclude group members by Trait
Group.characteristic.id		0..1	string	Unique id for inter-element referencing
Group.characteristic.extension		0..*	Extension	Additional content defined by implementations
Group.characteristic.modifierExtension	?! This element is a modifier element. Σ This element is included in summaries.	0..*	Extension	Extensions that cannot be ignored even if unrecognized
Group.characteristic.code		1..1	CodeableConcept	Kind of characteristic Binding Description: (example): List of characteristics used to describe group members; e.g. gender, age, owner, location, etc.
Group.characteristic.value[x]		1..1		Value held by characteristic Binding Description: (example): Value of descriptive member characteristic; e.g. red, male, pneumonia, Caucasian, etc.
Group.characteristic.value[x].valueCodeableConcept			CodeableConcept
Group.characteristic.value[x].valueBoolean			boolean
Group.characteristic.value[x].valueQuantity			Quantity
Group.characteristic.value[x].valueRange			Range
Group.characteristic.value[x].valueReference			Reference(Any)
Group.characteristic.exclude		1..1	boolean	Group includes or excludes
Group.characteristic.period		0..1	Period	Period over which characteristic is tested
Group.member	S This element must be supported. C	0..*	BackboneElement	Who or what is in group
Group.member.id		0..1	string	Unique id for inter-element referencing
Group.member.Slices for extension		1..*	Extension	Extension Slice: Unordered, Open by value:url
Group.member.Slices for extension.extension:relationship	S This element must be supported.	1..1	CodeableConcept	Role of the patient in the family: mother, father, son, daughter, ... (the proband is ONESELF) URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberRelationship Binding: PatientRelationshipType (required)
Group.member.Slices for extension.extension:familyMemberHistory	S This element must be supported.	0..1	Reference(FamilyMemberHistory)	Family history of this member, relative to the proband URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberHistoryReference
Group.member.modifierExtension	?! This element is a modifier element. Σ This element is included in summaries.	0..*	Extension	Extensions that cannot be ignored even if unrecognized
Group.member.entity		1..1	Reference(Patient)	Family member (Patient)
Group.member.period		0..1	Period	Period member belonged to the group
Group.member.inactive		0..1	boolean	If member is no longer in group
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Group.language	Base	preferred	Common Languages	📍4.0.1	FHIR Std.
Group.type	Base	required	GroupType	📍4.0.1	FHIR Std.
Group.code	Base	extensible	Family Structure	📦2.2.5	This IG
Group.characteristic.​code	Base	example		Not State	Unknown
Group.characteristic.​value[x]	Base	example		Not State	Unknown

Constraints

Id

Grade

Path(s)

Description

Expression

This structure is derived from Group

Summary

Mandatory: 1 element(2 nested mandatory elements)
Must-Support: 7 elements
Fixed: 2 elements

Structures

This structure refers to these other structures:

• Genomics Pedigree Number (https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicsPedigreeNumber)
• NGIS Referral Id (https://fhir.nwgenomics.nhs.uk/StructureDefinition/NGISReferralId)
• Patient (https://fhir.nwgenomics.nhs.uk/StructureDefinition/Patient)

Extensions

This structure refers to these extensions:

• https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberRelationship
• https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberHistoryReference

Slices

This structure defines the following Slices:

• The element 1 is sliced based on the value of Group.identifier