NHS North West Genomics
0.0.8 - ci-build United Kingdom flag

NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions

: Pedigree - JSON Representation

Draft as of 2025-10-30

Raw json | Download

{
  "resourceType" : "Questionnaire",
  "id" : "Pedigree",
  "meta" : {
    "profile" : [
      🔗 "https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"
    ]
  },
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Questionnaire Pedigree</b></p><a name=\"Pedigree\"> </a><a name=\"hcPedigree\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-NWQuestionnaire.html\">Questionnaire</a></p></div><table border=\"1\" cellpadding=\"0\" cellspacing=\"0\" style=\"border: 1px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;\"><tr style=\"border: 2px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top\"><th style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/formats.html#table\" title=\"The linkID for the item\">LinkID</a></th><th style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/formats.html#table\" title=\"Text for the item\">Text</a></th><th style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/formats.html#table\" title=\"Minimum and Maximum # of times the item can appear in the instance\">Cardinality</a></th><th style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/formats.html#table\" title=\"The type of the item\">Type</a></th><th style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/formats.html#table\" title=\"Additional information about the item\">Description &amp; Constraints</a><span style=\"float: right\"><a href=\"https://hl7.org/fhir/R4/formats.html#table\" title=\"Legend for this format\"><img src=\"data:image/png;base64,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\" alt=\"doco\" style=\"background-color: inherit\"/></a></span></th></tr><tr style=\"border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_q_root.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"QuestionnaireRoot\" class=\"hierarchy\"/> </td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Basic mapping of GA4GH Pedigree - for elaboration purposes</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Questionnaire</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">https://fhir.nwgenomics.nhs.uk/Questionnaire/Pedigree#0.0.8</td></tr>\r\n<tr style=\"border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" id=\"item.778124063099\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon-q-string.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"string\" class=\"hierarchy\"/> 778124063099</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Patient NHS Number</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string\">string</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/></tr>\r\n<tr style=\"border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" id=\"item.SNM3/734840008\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon-q-coding.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"coding\" class=\"hierarchy\"/> SNM3/734840008</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Karyotypic Sex</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice\">choice</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Value Set: http://snomed.info/sct/900000000000207008?fhir_vs=ecl/%3C734840008</td></tr>\r\n<tr style=\"border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" id=\"item.SNM3/95462004\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon-q-coding.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"coding\" class=\"hierarchy\"/> SNM3/95462004</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Anomaly of sex chromosome</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice\">choice</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Value Set: http://snomed.info/sct/900000000000207008?fhir_vs=ecl/%3C95462004</td></tr>\r\n<tr style=\"border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck01.png)\" id=\"item.109013198442\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon-q-group.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"group\" class=\"hierarchy\"/> 109013198442</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Individual</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..*</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group\">group</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/></tr>\r\n<tr style=\"border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)\" id=\"item.899651036145\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon-q-string.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"string\" class=\"hierarchy\"/> 899651036145</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Individual NHS Number</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string\">string</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/></tr>\r\n<tr style=\"border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck000.png)\" id=\"item.SNM3/303071001\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_blank.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon-q-coding.png\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"coding\" class=\"hierarchy\"/> SNM3/303071001</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Relationship</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"https://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice\">choice</a></td><td style=\"vertical-align: top; text-align : var(--ig-left,left); background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Value Set: http://snomed.info/sct/900000000000207008?fhir_vs=ecl/%3C303071001</td></tr>\r\n<tr><td colspan=\"5\" class=\"hierarchy\"><br/><a href=\"https://hl7.org/fhir/R4/formats.html#table\" title=\"Legend for this format\"><img src=\"data:image/png;base64,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\" alt=\"doco\" style=\"background-color: inherit\"/> Documentation for this format</a></td></tr></table></div>"
  },
  "url" : "https://fhir.nwgenomics.nhs.uk/Questionnaire/Pedigree",
  "version" : "0.0.8",
  "title" : "Pedigree",
  "status" : "draft",
  "date" : "2025-10-30T11:13:25+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"
        }
      ]
    }
  ]
}