DRAFT Implementation Guide

This is for collaboration and discussion purposes and is subject to change.

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: Genomic Condition Code - JSON Representation

Draft as of 2025-05-08

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{
  "resourceType" : "CodeSystem",
  "id" : "genomic-condition-code",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem genomic-condition-code</b></p><a name=\"genomic-condition-code\"> </a><a name=\"hcgenomic-condition-code\"> </a><p>This case-sensitive code system <code>https://nw-gmsa.github.io/CodeSystem/GenomicConditionCode</code> provides <b>a fragment</b> that includes following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">R361<a name=\"genomic-condition-code-R361\"> </a></td><td>Childhood onset hereditary spastic paraplegia</td></tr><tr><td style=\"white-space:nowrap\">R362<a name=\"genomic-condition-code-R362\"> </a></td><td>Not present in 8.0</td></tr><tr><td style=\"white-space:nowrap\">R372<a name=\"genomic-condition-code-R372\"> </a></td><td>Newborn screening for sickle cell disease in a transfused baby</td></tr><tr><td style=\"white-space:nowrap\">R93<a name=\"genomic-condition-code-R93\"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies</td></tr><tr><td style=\"white-space:nowrap\">R94<a name=\"genomic-condition-code-R94\"> </a></td><td>Not present in 8.0</td></tr><tr><td style=\"white-space:nowrap\">R413<a name=\"genomic-condition-code-R413\"> </a></td><td>Autoinflammatory Disorders</td></tr><tr><td style=\"white-space:nowrap\">R67<a name=\"genomic-condition-code-R67\"> </a></td><td>Monogenic hearing loss</td></tr><tr><td style=\"white-space:nowrap\">R141<a name=\"genomic-condition-code-R141\"> </a></td><td>Monogenic diabetes</td></tr><tr><td style=\"white-space:nowrap\">R142<a name=\"genomic-condition-code-R142\"> </a></td><td>Glucokinase-related fasting hyperglycaemia</td></tr><tr><td style=\"white-space:nowrap\">R201<a name=\"genomic-condition-code-R201\"> </a></td><td>Atypical haemolytic uraemic syndrome</td></tr><tr><td style=\"white-space:nowrap\">M9<a name=\"genomic-condition-code-M9\"> </a></td><td>Thyroid Papillary Carcinoma - Adult</td></tr><tr><td style=\"white-space:nowrap\">M215<a name=\"genomic-condition-code-M215\"> </a></td><td>Endometrial Cancer</td></tr></table></div>"
  },
  "url" : "https://nw-gmsa.github.io/CodeSystem/GenomicConditionCode",
  "version" : "0.0.1",
  "name" : "GenomicConditionCode",
  "title" : "Genomic Condition Code",
  "status" : "draft",
  "experimental" : false,
  "date" : "2025-05-08",
  "publisher" : "NHS North West GMSA",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.nw-gmsa.nhs.uk/contact-us"
        }
      ]
    }
  ],
  "description" : "2nd level Genomic Test Directory Codes",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
          "code" : "GB",
          "display" : "United Kingdom of Great Britain and Northern Ireland"
        }
      ]
    }
  ],
  "caseSensitive" : true,
  "content" : "fragment",
  "concept" : [
    {
      "code" : "R361",
      "display" : "Childhood onset hereditary spastic paraplegia"
    },
    {
      "code" : "R362",
      "display" : "Not present in 8.0"
    },
    {
      "code" : "R372",
      "display" : "Newborn screening for sickle cell disease in a transfused baby"
    },
    {
      "code" : "R93",
      "display" : "Sickle cell, thalassaemia and other haemoglobinopathies"
    },
    {
      "code" : "R94",
      "display" : "Not present in 8.0"
    },
    {
      "code" : "R413",
      "display" : "Autoinflammatory Disorders"
    },
    {
      "code" : "R67",
      "display" : "Monogenic hearing loss"
    },
    {
      "code" : "R141",
      "display" : "Monogenic diabetes"
    },
    {
      "code" : "R142",
      "display" : "Glucokinase-related fasting hyperglycaemia"
    },
    {
      "code" : "R201",
      "display" : "Atypical haemolytic uraemic syndrome"
    },
    {
      "code" : "M9",
      "display" : "Thyroid Papillary Carcinoma - Adult"
    },
    {
      "code" : "M215",
      "display" : "Endometrial Cancer"
    }
  ]
}