NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Data Type Profile: Genomics Pedigree Number

Official URL: https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicsPedigreeNumber Version: 2.2.0
Draft as of 2026-09-20 Computable Name: GenomicsPedigreeNumber

NHS Data Dictionary and Model

No NHS Data Dictionary entry - this identifier is specific to genomics family studies and is not a nationally-defined NHS data item. See also Medical Record Number for the equivalent individual-patient identifier this complements.

The underlying concept - numbering a family/pedigree as a unit, distinct from numbering each individual - is rooted in general clinical genetics/genetic counselling practice, standardised by the National Society of Genetic Counselors' pedigree nomenclature, not invented by any single genomics programme.

Is this a Genomics England concept specifically? Genomics England's own 100,000 Genomes Project / National Genomic Research Library data model does use a "Pedigree ID"/"Family ID" - e.g. its denovo_cohort_information table records "participant ID, sex, affection status, family ID, pedigree ID" per trio, and a separate rare_diseases_pedigree_member table records each participant's relationship to their family's proband. So the concept is real and used by Genomics England, but it is an application of the wider clinical genetics convention above, not a Genomics-England-specific invention.

Ubiquitous terms: Pedigree Number, Family ID, Kindred Number.

Mapping

Ubiquitous Term HL7 FHIR HL7 v2 OID Notes
Pedigree Number Patient.identifier (type = PI) Patient Identifier List (PID-3) none - locally assigned, system fixed to https://fhir.nhs.uk/Id/genomics-pedigree-number Identifies a family/pedigree group across related Distributed WGS (dWGS) participants - a "Patient internal identifier" (PI), not the patient's own medical record number (MR)

Examples

HL7 v2 CX

PED-2026-0042^^^R0A^PI

HL7 FHIR Identifier

{
  "type": {
    "coding": [
      {
        "system": "http://terminology.hl7.org/CodeSystem/v2-0203",
        "code": "PI"
      }
    ]
  },
  "system": "https://fhir.nhs.uk/Id/genomics-pedigree-number",
  "value": "PED-2026-0042",
  "assigner": {
    "identifier": {
      "system": "https://fhir.nhs.uk/Id/ods-organization-code",
      "value": "R0A"
    }
  }
}

Usages:

  • This DataType Profile is not used by any profiles in this Specification

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

Description Differentials, Snapshots, and other representations.

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Identifier 0..* CorrelationIdentifier An identifier intended for computation
... use ?!Σ 0..1 code usual | official | temp | secondary | old (If known)
Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
... type SΣ 0..1 CodeableConcept Description of identifier
Binding: NW IdentifierType (required)
Fixed Value: As shown (Patient internal identifier)
.... id 0..0 string Unique id for inter-element referencing
.... extension 0..0 Extension Additional content defined by implementations
.... coding 1..1 Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..0 string Unique id for inter-element referencing
..... extension 0..0 Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0203
..... version 0..0 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: PI
..... display 0..0 string Representation defined by the system
..... userSelected 0..0 boolean If this coding was chosen directly by the user
.... text 0..0 string Plain text representation of the concept
... system SΣ 0..1 uri Recommended. This may be defined by a EPR/LIMS system.
Required Pattern: https://fhir.nhs.uk/Id/genomics-pedigree-number
... value SΣ 1..1 string The value MUST be unique to the organisation
Example General: 123456
... assigner SΣ 0..1 Reference(Organization) Assigning Facility
.... identifier SΣ 1..1 Identifier Logical reference, when literal reference is not known
..... use ?!Σ 0..1 code usual | official | temp | secondary | old (If known)
Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
..... system SΣ 1..1 uri The namespace for the identifier value
Required Pattern: https://fhir.nhs.uk/Id/ods-organization-code
..... value SΣ 1..1 string The value that is unique
Example General: 123456
Example Manchester University NHS Foundation Trust: R0A

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Identifier.use Base required IdentifierUse 📍4.0.1 FHIR Std.
Identifier.type Base required NW IdentifierType 📦2.2.0 This IG
Identifier.assigner.​identifier.use Base required IdentifierUse 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Identifier 0..* CorrelationIdentifier An identifier intended for computation
... type 0..1 CodeableConcept Description of identifier
Fixed Value: As shown (Patient internal identifier)
.... coding 1..1 Coding Code defined by a terminology system
Fixed Value: (Complex)
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0203
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: PI
... system 0..1 uri Recommended. This may be defined by a EPR/LIMS system.
Required Pattern: https://fhir.nhs.uk/Id/genomics-pedigree-number
... assigner 0..1 Reference(Organization) Assigning Facility

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Identifier 0..* CorrelationIdentifier An identifier intended for computation
... id 0..1 string Unique id for inter-element referencing
... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
... use ?!Σ 0..1 code usual | official | temp | secondary | old (If known)
Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
... type SΣ 0..1 CodeableConcept Description of identifier
Binding: NW IdentifierType (required)
Fixed Value: As shown (Patient internal identifier)
.... id 0..0 string Unique id for inter-element referencing
.... extension 0..0 Extension Additional content defined by implementations
.... coding 1..1 Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..0 string Unique id for inter-element referencing
..... extension 0..0 Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0203
..... version 0..0 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: PI
..... display 0..0 string Representation defined by the system
..... userSelected 0..0 boolean If this coding was chosen directly by the user
.... text 0..0 string Plain text representation of the concept
... system SΣ 0..1 uri Recommended. This may be defined by a EPR/LIMS system.
Required Pattern: https://fhir.nhs.uk/Id/genomics-pedigree-number
... value SΣ 1..1 string The value MUST be unique to the organisation
Example General: 123456
... period Σ 0..1 Period Time period when id is/was valid for use
... assigner SΣ 0..1 Reference(Organization) Assigning Facility
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... reference ΣC 0..1 string Literal reference, Relative, internal or absolute URL
.... type Σ 0..1 uri Type the reference refers to (e.g. "Patient")
Binding: ResourceType (extensible): Aa resource (or, for logical models, the URI of the logical model).
.... identifier SΣ 1..1 Identifier Logical reference, when literal reference is not known
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... use ?!Σ 0..1 code usual | official | temp | secondary | old (If known)
Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
..... type Σ 0..1 CodeableConcept Description of identifier
Binding: Identifier Type Codes (extensible): A coded type for an identifier that can be used to determine which identifier to use for a specific purpose.
..... system SΣ 1..1 uri The namespace for the identifier value
Required Pattern: https://fhir.nhs.uk/Id/ods-organization-code
..... value SΣ 1..1 string The value that is unique
Example General: 123456
Example Manchester University NHS Foundation Trust: R0A
..... period Σ 0..1 Period Time period when id is/was valid for use
..... assigner Σ 0..1 Reference(Organization) Organization that issued id (may be just text)
.... display Σ 0..1 string Text alternative for the resource

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Identifier.use Base required IdentifierUse 📍4.0.1 FHIR Std.
Identifier.type Base required NW IdentifierType 📦2.2.0 This IG
Identifier.assigner.​type Base extensible ResourceType 📍4.0.1 FHIR Std.
Identifier.assigner.​identifier.use Base required IdentifierUse 📍4.0.1 FHIR Std.
Identifier.assigner.​identifier.type Base extensible IdentifierType 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression

Summary

Fixed: 1 element

Key Elements View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Identifier 0..* CorrelationIdentifier An identifier intended for computation
... use ?!Σ 0..1 code usual | official | temp | secondary | old (If known)
Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
... type SΣ 0..1 CodeableConcept Description of identifier
Binding: NW IdentifierType (required)
Fixed Value: As shown (Patient internal identifier)
.... id 0..0 string Unique id for inter-element referencing
.... extension 0..0 Extension Additional content defined by implementations
.... coding 1..1 Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..0 string Unique id for inter-element referencing
..... extension 0..0 Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0203
..... version 0..0 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: PI
..... display 0..0 string Representation defined by the system
..... userSelected 0..0 boolean If this coding was chosen directly by the user
.... text 0..0 string Plain text representation of the concept
... system SΣ 0..1 uri Recommended. This may be defined by a EPR/LIMS system.
Required Pattern: https://fhir.nhs.uk/Id/genomics-pedigree-number
... value SΣ 1..1 string The value MUST be unique to the organisation
Example General: 123456
... assigner SΣ 0..1 Reference(Organization) Assigning Facility
.... identifier SΣ 1..1 Identifier Logical reference, when literal reference is not known
..... use ?!Σ 0..1 code usual | official | temp | secondary | old (If known)
Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
..... system SΣ 1..1 uri The namespace for the identifier value
Required Pattern: https://fhir.nhs.uk/Id/ods-organization-code
..... value SΣ 1..1 string The value that is unique
Example General: 123456
Example Manchester University NHS Foundation Trust: R0A

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Identifier.use Base required IdentifierUse 📍4.0.1 FHIR Std.
Identifier.type Base required NW IdentifierType 📦2.2.0 This IG
Identifier.assigner.​identifier.use Base required IdentifierUse 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression

Differential View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Identifier 0..* CorrelationIdentifier An identifier intended for computation
... type 0..1 CodeableConcept Description of identifier
Fixed Value: As shown (Patient internal identifier)
.... coding 1..1 Coding Code defined by a terminology system
Fixed Value: (Complex)
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0203
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: PI
... system 0..1 uri Recommended. This may be defined by a EPR/LIMS system.
Required Pattern: https://fhir.nhs.uk/Id/genomics-pedigree-number
... assigner 0..1 Reference(Organization) Assigning Facility

doco Documentation for this format

Snapshot ViewView

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Identifier 0..* CorrelationIdentifier An identifier intended for computation
... id 0..1 string Unique id for inter-element referencing
... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
... use ?!Σ 0..1 code usual | official | temp | secondary | old (If known)
Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
... type SΣ 0..1 CodeableConcept Description of identifier
Binding: NW IdentifierType (required)
Fixed Value: As shown (Patient internal identifier)
.... id 0..0 string Unique id for inter-element referencing
.... extension 0..0 Extension Additional content defined by implementations
.... coding 1..1 Coding Code defined by a terminology system
Fixed Value: (Complex)
..... id 0..0 string Unique id for inter-element referencing
..... extension 0..0 Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0203
..... version 0..0 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: PI
..... display 0..0 string Representation defined by the system
..... userSelected 0..0 boolean If this coding was chosen directly by the user
.... text 0..0 string Plain text representation of the concept
... system SΣ 0..1 uri Recommended. This may be defined by a EPR/LIMS system.
Required Pattern: https://fhir.nhs.uk/Id/genomics-pedigree-number
... value SΣ 1..1 string The value MUST be unique to the organisation
Example General: 123456
... period Σ 0..1 Period Time period when id is/was valid for use
... assigner SΣ 0..1 Reference(Organization) Assigning Facility
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... reference ΣC 0..1 string Literal reference, Relative, internal or absolute URL
.... type Σ 0..1 uri Type the reference refers to (e.g. "Patient")
Binding: ResourceType (extensible): Aa resource (or, for logical models, the URI of the logical model).
.... identifier SΣ 1..1 Identifier Logical reference, when literal reference is not known
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... use ?!Σ 0..1 code usual | official | temp | secondary | old (If known)
Binding: IdentifierUse (required): Identifies the purpose for this identifier, if known .
..... type Σ 0..1 CodeableConcept Description of identifier
Binding: Identifier Type Codes (extensible): A coded type for an identifier that can be used to determine which identifier to use for a specific purpose.
..... system SΣ 1..1 uri The namespace for the identifier value
Required Pattern: https://fhir.nhs.uk/Id/ods-organization-code
..... value SΣ 1..1 string The value that is unique
Example General: 123456
Example Manchester University NHS Foundation Trust: R0A
..... period Σ 0..1 Period Time period when id is/was valid for use
..... assigner Σ 0..1 Reference(Organization) Organization that issued id (may be just text)
.... display Σ 0..1 string Text alternative for the resource

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Identifier.use Base required IdentifierUse 📍4.0.1 FHIR Std.
Identifier.type Base required NW IdentifierType 📦2.2.0 This IG
Identifier.assigner.​type Base extensible ResourceType 📍4.0.1 FHIR Std.
Identifier.assigner.​identifier.use Base required IdentifierUse 📍4.0.1 FHIR Std.
Identifier.assigner.​identifier.type Base extensible IdentifierType 📍4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression

Summary

Fixed: 1 element

 

Other representations of profile: CSV, Excel, Schematron