Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
Bundle-NonWGSTestOrderForm-FetalScenario-Example
Example of a Non-WGS test request sent to the central broker, as described in the Clinical Scenario:Fetus Management
Bundle |
id : Bundle-NonWGSTestOrderForm-FetalScenario-Example |
type : transaction |
entry |
fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
resource |
id : PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
practitioner |
identifier |
system : https://fhir.nhs.uk/Id/sds-user-id |
value : 9999999999 |
display : Dr. Lois Lane |
organization |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
display : Kingston Hospital NHS Foundation Trust |
specialty |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
code : 311 |
display : Clinical Genetics |
telecom |
system : phone |
value : 02068457781 |
telecom |
system : email |
value : lois.lane1@nhs.net |
telecom |
system : email |
value : clinicalgeneticskingston@nhs.net |
extension |
url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
value : reporting |
telecom |
system : email |
value : fetalmedicinekingston@nhs.net |
extension |
url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
value : reporting |
telecom |
system : email |
value : gptestpracticekingston@nhs.net |
extension |
url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
value : reporting |
request |
method : POST |
url : PractitionerRole |
entry |
fullUrl : http://example.org/fhir/Patient/Patient-RyanneBoulder-Example |
resource |
id : Patient-RyanneBoulder-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
value |
coding |
system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
code : F |
display : Female |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
code : A |
display : White - British |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
version : 2.2.0 |
code : 01 |
display : Number present and verified |
identifier |
system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
value : RWT13521 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
name |
given : Ryanne |
family : Boulder |
birthDate : 1980-09-02 |
deceased : False |
address |
line : 53 Eastwick Pack Avenue |
line : Leatherhead |
line : Surrey |
postalCode : KT23 3NP |
generalPractitioner |
identifier |
system : https://fhir.hl7.org.uk/Id/gmp-number |
value : G9999999 |
display : Dr. Aero Smith |
generalPractitioner |
identifier |
system : https://fhir.hl7.org.uk/Id/ODS-code |
value : AP123 |
display : anywhere place |
link |
other |
reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307687 |
type : seealso |
link |
other |
reference : RelatedPerson/RelatedPerson-RyanneBoulder-Example |
type : seealso |
request |
method : POST |
url : Patient |
ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307687 |
entry |
fullUrl : http://example.org/fhir/Patient/Patient-FoetusOfRyanneBoulder-Example |
resource |
id : Patient-FoetusOfRyanneBoulder-Example |
extension |
url : http://hl7.org/fhir/6.0/StructureDefinition/extension-Patient.fetalStatus |
value : unknown |
identifier |
system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
value : FT-RWT13521 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
gender : unknown |
request |
method : POST |
url : Patient |
ifNoneExist : Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|FT-RWT13521 |
entry |
fullUrl : http://example.org/fhir/Patient/Patient-RyanneBoulderPartner-Example |
resource |
id : Patient-RyanneBoulderPartner-Example |
identifier |
system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
value : P-RWT13521 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
gender : unknown |
link |
other |
reference : RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
type : seealso |
request |
method : POST |
url : Patient |
ifNoneExist : Patient?identifier=urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24|P-RWT13521 |
entry |
fullUrl : http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example |
resource |
id : Observation-GenomicEthnicity-Example |
status : preliminary |
code |
coding |
system : http://snomed.info/sct |
code : 723621000000103 |
display : Ethnicity |
subject |
reference : Patient/Patient-RyanneBoulder-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
value : unknown |
request |
method : POST |
url : Observation |
entry |
fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
resource |
id : ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs-england |
display : NHS England |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
category |
coding |
system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
code : staging-or-prognosis |
display : Staging or Prognosis |
priority : urgent |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R21 |
display : Fetal anomalies with a likely genetic cause |
version : 7 |
subject |
reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
identifier |
system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
value : FT-RWT13521 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
authoredOn : 2023-09-25 |
requester |
reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
supportingInfo |
reference : Observation/Observation-HistoryOfFetalLoss-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-PregnancyConfirmation-Example |
supportingInfo |
reference : Observation/Observation-NoTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
supportingInfo |
reference : Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
supportingInfo |
reference : Procedure/Procedure-InVitroFertilisation-Example |
supportingInfo |
reference : RelatedPerson/RelatedPerson-RyanneBoulder-Example |
supportingInfo |
reference : Patient/Patient-RyanneBoulder-Example |
supportingInfo |
reference : RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
supportingInfo |
reference : Patient/Patient-RyanneBoulderPartner-Example |
supportingInfo |
reference : Specimen/Specimen-BloodEDTA-Example |
supportingInfo |
reference : Specimen/Specimen-RyanneBoulderSaliva-Example |
note |
text : Samples are to be provided at a later date |
note |
text : No family history of relevant testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
request |
method : POST |
url : ServiceRequest |
entry |
fullUrl : http://example.org/fhir/Observation/Observation-HistoryOfFetalLoss-Example |
resource |
id : Observation-HistoryOfFetalLoss-Example |
status : final |
code |
coding |
system : http://snomed.info/sct |
code : 161743003 |
display : Past pregnancy history of stillbirth |
text : Is the testing for a fetal loss from 24+0 or more weeks of gestation? |
subject |
reference : Patient/Patient-RyanneBoulder-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
effective : 2023-09-25 |
value : False |
request |
method : POST |
url : Observation |
entry |
fullUrl : http://example.org/fhir/Observation/Observation-PregnancyConfirmation-Example |
resource |
id : Observation-PregnancyConfirmation-Example |
status : final |
code |
coding |
system : http://snomed.info/sct |
code : 77386006 |
display : Pregnancy |
subject |
reference : Patient/Patient-RyanneBoulder-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
component |
code |
coding |
system : http://snomed.info/sct |
code : 720451000000102 |
display : Assisted conception |
component |
code |
coding |
system : http://snomed.info/sct |
code : 226081000000107 |
display : Gestational age |
value |
value : 87 |
unit : day |
system : http://unitsofmeasure.org |
code : d |
component |
code |
coding |
system : http://snomed.info/sct |
code : 161714006 |
display : Estimated date of delivery |
value : 2024-05-01 |
effective : 2023-09-25 |
request |
method : POST |
url : Observation |
entry |
fullUrl : http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example |
resource |
id : Observation-NonConsanguinousUnion-Example |
status : final |
code |
coding |
system : http://snomed.info/sct |
code : 160475008 |
display : Family history: Consanguinity |
subject |
reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
identifier |
system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
value : FT-RWT13521 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
effective : 2023-09-25 |
value : False |
request |
method : POST |
url : Observation |
entry |
fullUrl : http://example.org/fhir/Observation/Observation-NoTransplant-Example |
resource |
id : Observation-NoTransplant-Example |
status : final |
code |
coding |
system : http://snomed.info/sct |
code : 416128008 |
display : No history of procedure |
value |
coding |
system : http://snomed.info/sct |
code : 263903005 |
display : Transplant |
subject |
reference : Patient/Patient-RyanneBoulder-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
effective : 2023-09-25 |
request |
method : POST |
url : Observation |
entry |
fullUrl : http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
resource |
id : Observation-NoFirstTrimesterFetalAnomalies-Example |
status : final |
code |
coding |
system : http://snomed.info/sct |
code : 609520005 |
display : Disorder of fetal structure |
text : First Trimester Anomalies? |
subject |
reference : Patient/Patient-RyanneBoulder-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
component |
code |
coding |
system : http://snomed.info/sct |
code : 255246003 |
display : First trimester |
effective : 2023-09-25 |
value : False |
request |
method : POST |
url : Observation |
entry |
fullUrl : http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
resource |
id : Observation-NoSecondTrimesterFetalAnomalies-Example |
status : final |
code |
coding |
system : http://snomed.info/sct |
code : 609520005 |
display : Disorder of fetal structure |
text : Second Trimester Anomalies? |
subject |
reference : Patient/Patient-RyanneBoulder-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
component |
code |
coding |
system : http://snomed.info/sct |
code : 255247007 |
display : Second trimester |
effective : 2023-09-25 |
value : False |
request |
method : POST |
url : Observation |
entry |
fullUrl : http://example.org/fhir/Procedure/Procedure-InVitroFertilisation-Example |
resource |
id : Procedure-InVitroFertilisation-Example |
status : completed |
code |
coding |
system : http://snomed.info/sct |
code : 52637005 |
display : In vitro fertilisation |
subject |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
performed : 2023-09-25 |
note |
text : Woman`s own egg |
request |
method : POST |
url : Procedure |
entry |
fullUrl : http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example |
resource |
id : Specimen-BloodEDTA-Example |
identifier |
system : https://fhir.kingstonhospital.nhs.uk/Id/specimenId |
value : ROA-69050-216738 |
status : unavailable |
type |
coding |
system : http://snomed.info/sct |
code : 119297000 |
display : Blood specimen |
subject |
reference : Patient/Patient-RyanneBoulder-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
request |
reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
container |
additive |
coding |
system : http://snomed.info/sct |
code : 69519002 |
display : EDTA |
request |
method : POST |
url : Specimen |
entry |
fullUrl : http://example.org/fhir/Specimen/Specimen-RyanneBoulderSaliva-Example |
resource |
id : Specimen-RyanneBoulderSaliva-Example |
identifier |
system : https://fhir.kingstonhospital.nhs.uk/Id/specimenId |
value : ROA-69050-216739 |
status : available |
type |
coding |
system : http://snomed.info/sct |
code : 119342007 |
display : Saliva specimen |
subject |
reference : Patient/Patient-RyanneBoulder-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
container |
description : Container:ROA-69050-216739 contains Saliva for Mother |
request |
reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
request |
method : POST |
url : Specimen |
entry |
fullUrl : http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulder-Example |
resource |
id : RelatedPerson-RyanneBoulder-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307687 |
patient |
reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
identifier |
system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
value : FT-RWT13521 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
relationship |
coding |
system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
code : NMTHF |
display : natural mother of fetus |
request |
method : POST |
url : RelatedPerson |
entry |
fullUrl : http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example |
resource |
id : RelatedPerson-RyanneBoulderPartner-Example |
identifier |
system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
value : P-RWT13521 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
patient |
reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
identifier |
system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
value : FT-RWT13521 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
relationship |
coding |
system : http://terminology.hl7.org/CodeSystem/v3-RoleCode |
code : NFTHF |
display : natural father of fetus |
request |
method : POST |
url : RelatedPerson |
{
{
"fullUrl": "http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example",
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
]
},
{
{
}
]
},
{
{
}
]
}
]
},
}
},
{
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
]
},
{
}
}
],
],
],
{
},
},
{
},
}
],
{
},
},
{
}
]
},
}
},
{
{
}
],
{
}
}
],
},
}
},
{
{
}
}
],
{
},
}
]
},
}
},
{
]
},
}
},
},
}
},
{
"fullUrl": "http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example",
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
}
]
},
}
},
{
{
}
],
},
}
},
},
}
},
{
},
}
},
{
]
}
},
{
]
},
}
},
{
{
}
]
},
}
],
},
}
},
{
{
}
]
},
}
}
},
},
}
},
{
]
},
},
}
},
},
}
},
{
"fullUrl": "http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example",
{
}
],
},
}
},
{
]
}
}
],
},
}
},
{
"fullUrl": "http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example",
{
}
],
},
}
},
{
]
}
}
],
},
}
},
{
]
},
},
]
},
}
},
{
],
]
},
}
},
],
{
}
}
]
},
}
},
{
],
]
},
}
},
],
]
},
}
},
{
],
}
}
},
{
{
}
]
}
]
},
}
},
{
{
}
}
],
}
}
},
{
{
}
]
}
]
},
}
}
]
}
<fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" />
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<Patient>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</identifier>
</name>
</address>
</identifier>
</generalPractitioner>
</identifier>
</generalPractitioner>
</other>
</link>
</other>
</link>
</Patient>
</resource>
</request>
</entry>
<Patient>
</extension>
</identifier>
</assigner>
</identifier>
</Patient>
</resource>
</request>
</entry>
<Patient>
</identifier>
</assigner>
</identifier>
</other>
</link>
</Patient>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" />
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</assigner>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</coding>
</code>
</valueQuantity>
</component>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</assigner>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" />
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" />
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</code>
</component>
</Observation>
</resource>
</request>
</entry>
<Procedure>
</coding>
</code>
</identifier>
</subject>
</note>
</Procedure>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</identifier>
</subject>
</request>
</coding>
</additiveCodeableConcept>
</container>
</Specimen>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</identifier>
</subject>
</request>
</container>
</Specimen>
</resource>
</request>
</entry>
<RelatedPerson>
</identifier>
</identifier>
</assigner>
</identifier>
</patient>
</coding>
</relationship>
</RelatedPerson>
</resource>
</request>
</entry>
<fullUrl value="http://example.org/fhir/RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example" />
<RelatedPerson>
</identifier>
</assigner>
</identifier>
</identifier>
</assigner>
</identifier>
</patient>
</coding>
</relationship>
</RelatedPerson>
</resource>
</request>
</entry>
</Bundle>