FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Questionnaire |
| Id | Questionnaire-Pedigree.json |
| FHIR Version | R4 |
| Source | https://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/Questionnaire-Pedigree.html |
| URL | https://fhir.nwgenomics.nhs.uk/Questionnaire/Pedigree |
| Version | 0.1.0 |
| Status | draft |
| Date | 2026-02-10T04:20:28+00:00 |
| Title | Pedigree |
| Realm | us |
| Authority | hl7 |
| Description | Basic mapping of GA4GH Pedigree - for elaboration purposes |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Questionnaire Pedigree
Profile: Questionnaire
| LinkID | Text | Cardinality | Type | Description & Constraints |
|---|---|---|---|---|
  | Basic mapping of GA4GH Pedigree - for elaboration purposes | Questionnaire | https://fhir.nwgenomics.nhs.uk/Questionnaire/Pedigree#0.1.0 | |
  778124063099 | Patient NHS Number | 0..1 | string | |
 SNM3/734840008 | Karyotypic Sex | 0..1 | choice | Value Set: http://snomed.info/sct/900000000000207008?fhir_vs=ecl/%3C734840008 |
| SNM3/95462004 | Anomaly of sex chromosome | 0..1 | choice | Value Set: http://snomed.info/sct/900000000000207008?fhir_vs=ecl/%3C95462004 |
  109013198442 | Individual | 0..* | group | |
 899651036145 | Individual NHS Number | 0..1 | string | |
| SNM3/303071001 | Relationship | 0..1 | choice | Value Set: http://snomed.info/sct/900000000000207008?fhir_vs=ecl/%3C303071001 |
| Documentation for this format | ||||
FHIR
FHIRsmith{
"resourceType": "Questionnaire",
"id": "Pedigree",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"
]
},
"text": {
"status": "extensions",
"div": "<!-- snip (see above) -->"
},
"url": "https://fhir.nwgenomics.nhs.uk/Questionnaire/Pedigree",
"version": "0.1.0",
"title": "Pedigree",
"status": "draft",
"date": "2026-02-10T04:20:28+00:00",
"publisher": "NHS North West Genomics",
"contact": [
{
"telecom": [
{
"system": "url",
"value": "https://www.nwgenomics.nhs.uk/contact-us"
}
]
}
],
"description": "Basic mapping of GA4GH Pedigree - for elaboration purposes",
"jurisdiction": [
{
"coding": [
{
"system": "urn:iso:std:iso:3166",
"code": "GB",
"display": "United Kingdom of Great Britain and Northern Ireland"
}
]
}
],
"item": [
{
"linkId": "778124063099",
"text": "Patient NHS Number",
"type": "string"
},
{
"extension": [
{
"url": "http://hl7.org/fhir/uv/sdc/StructureDefinition/sdc-questionnaire-preferredTerminologyServer",
"valueUrl": "https://snowstorm.ihtsdotools.org/fhir"
}
],
"linkId": "SNM3/734840008",
"code": [
{
"system": "http://snomed.info/sct",
"code": "734840008",
"display": "Karyotype"
}
],
"text": "Karyotypic Sex",
"type": "choice",
"answerValueSet": "http://snomed.info/sct/900000000000207008?fhir_vs=ecl/%3C734840008"
},
{
"extension": [
{
"url": "http://hl7.org/fhir/uv/sdc/StructureDefinition/sdc-questionnaire-preferredTerminologyServer",
"valueUrl": "https://snowstorm.ihtsdotools.org/fhir"
}
],
"linkId": "SNM3/95462004",
"code": [
{
"system": "http://snomed.info/sct",
"code": "95462004",
"display": "Anomaly of sex chromosome"
}
],
"text": "Anomaly of sex chromosome",
"type": "choice",
"answerValueSet": "http://snomed.info/sct/900000000000207008?fhir_vs=ecl/%3C95462004"
},
{
"linkId": "109013198442",
"text": "Individual",
"type": "group",
"repeats": true,
"item": [
{
"linkId": "899651036145",
"text": "Individual NHS Number",
"type": "string"
},
{
"extension": [
{
"url": "http://hl7.org/fhir/uv/sdc/StructureDefinition/sdc-questionnaire-preferredTerminologyServer",
"valueUrl": "https://snowstorm.ihtsdotools.org/fhir"
}
],
"linkId": "SNM3/303071001",
"code": [
{
"system": "http://snomed.info/sct",
"code": "303071001",
"display": "Person in the family"
}
],
"text": "Relationship",
"type": "choice",
"answerValueSet": "http://snomed.info/sct/900000000000207008?fhir_vs=ecl/%3C303071001"
}
]
}
]
}