Additional Resources Included in Document

Entry 2 - fullUrl = urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd

Resource Patient:

Language: en

Profile: Patient

Ned LIVERPOOL (official) Male, DoB: 1942-06-18 ( Medical record number)

---

Active:	true
Other Id:	National Health Plan Identifier/9737383206 (use: official, )
Contact Detail	20 Forthlin Road LIVERPOOL L18 9TN (home)
Contact:	Ringo LIVERPOOL (Official) ph: 077021231231(Mobile)
Links:	General Practitioner: MATHER AVENUE SURGERY (Identifier: ODS Organisation Code/N82035)

Entry 3 - fullUrl = urn:uuid:c64139e7-f02d-409c-bf34-75e8bf23bc80

Resource DiagnosticReport:

version: 1.0; Language: en

Profile: Diagnostic Report

Genetic report (Genetics)

Subject	Octavia CHISLETT (official) Female, DoB: 2008-09-20 ( Medical record number)
Relevant Time	2023-09-07 11:45:41+0000
Performer	NW GLH (Identifier: ODS Organisation Code/699X0)
Identifier	http://www.acme.org/diagnosticreport/identifiers/98763a9b-98d4-4cfc-b760-1db086ec52a1

Report Details

Code	Value	Flags	Relevant Time
Diagnostic Implication		Final	2025-10-23 10:37:26+0000
Variables that apply to the overall study		Final	2025-10-23 10:37:26+0000
Genetic variant assessment		Final	2025-10-23 10:37:26+0000
Lynch syndrome		Final	2025-10-23 10:37:26+0000

Normal - no action

Entry 4 - fullUrl = urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c

Resource PractitionerRole:

Language: en

Profile: PractitionerRole

practitioner: Result INTERPRETER

organization: North West Genomics (Identifier: ODS Organisation Code/699X0)

Entry 5 - fullUrl = urn:uuid:6beb613f-d303-42af-b025-86e8e0872061

Resource Observation:

Language: en

Profile: Diagnostic Implication (Observation)

identifier: 6beb613f-d303-42af-b025-86e8e0872061

status: Final

category: Genetics

code: Diagnostic Implication

subject: Ned LIVERPOOL

effective: 2025-10-23 10:37:26+0000

performer: PractitionerRole

derivedFrom: Observation Genetic variant assessment

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Inherited MMR deficiency (Lynch syndrome)

Entry 6 - fullUrl = urn:uuid:0878c5de-c22f-4e31-841a-a82ad31c93aa

Resource Observation:

Language: en

Profile: Genomic Study Panel

identifier: 0878c5de-c22f-4e31-841a-a82ad31c93aa

status: Final

category: Genetics

code: Variables that apply to the overall study

subject: Ned LIVERPOOL

effective: 2025-10-23 10:37:26+0000

performer: PractitionerRole

hasMember: Observation Genetic disease assessed [ID]

Entry 7 - fullUrl = urn:uuid:8385c2fd-313d-4fd5-b98e-d5ea4bae6f99

Resource Observation:

Language: en

Profile: Variant (Observation)

identifier: 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99

status: Final

category: Genetics

code: Genetic variant assessment

subject: Ned LIVERPOOL

effective: 2025-10-23 10:37:26+0000

performer: PractitionerRole

method: Nucleic acid analysis

component

code: Gene studied [ID]

value: NTHL1

component

code: Transcript reference sequence [ID]

value: NM_000249

component

code: Genomic reference sequence [ID]

value: NG_007109.2:g.40514dupC

component

code: DNA change type

value: Duplication

component

code: Genomic source class

value: Germline

component

code: Allelic state

value: Heterozygous

component

code: Genomic ref allele [ID]

value: C

Entry 8 - fullUrl = urn:uuid:4490c092-c78c-480a-8cb7-653b70113fd5

Resource Observation:

Language: en

Profile: Observation

identifier: 4490c092-c78c-480a-8cb7-653b70113fd5

status: Final

category: Genetics

code: Lynch syndrome

subject: Ned LIVERPOOL

effective: 2025-10-23 10:37:26+0000

performer: PractitionerRole

derivedFrom: Observation Genetic variant assessment