FHIR IG Statistics: CodeSystem/NHSEngland-GenomicTestDirectory

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Source

{
  "resourceType": "CodeSystem",
  "id": "NHSEngland-GenomicTestDirectory",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "url": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
  "version": "0.0.7",
  "name": "NHSEnglandGenomicTestDirectory",
  "title": "Genomic Test Directory",
  "status": "active",
  "experimental": false,
  "date": "2025-02-11",
  "publisher": "NHS North West GMSA",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "https://www.nw-gmsa.nhs.uk/contact-us"
        }
      ]
    }
  ],
  "description": "- [Genomic Test Directory](https://www.england.nhs.uk/publication/national-genomic-test-directories)",
  "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": "R14.1",
      "display": "Acutely unwell children with a likely monogenic disorder"
    },
    {
      "code": "R133.1",
      "display": "Arrhythmogenic right ventricular cardiomyopathy"
    },
    {
      "code": "R391.1",
      "display": "Barth syndrome"
    },
    {
      "code": "R128.1",
      "display": "Brugada syndrome and cardiac sodium channel disease"
    },
    {
      "code": "R129.1",
      "display": "Catecholaminergic polymorphic VT"
    },
    {
      "code": "R132.1",
      "display": "Dilated and Arrhythmogenic cardiomyopathy"
    },
    {
      "code": "R140.1",
      "display": "Elastin-related phenotypes"
    },
    {
      "code": "R384.1",
      "display": "Generalised arterial calcification in infancy"
    },
    {
      "code": "R131.1",
      "display": "Hypertrophic cardiomyopathy"
    },
    {
      "code": "R127.1",
      "display": "Long QT syndrome"
    },
    {
      "code": "R135.2",
      "display": "Paediatric or syndromic cardiomyopathy"
    },
    {
      "code": "R135.3",
      "display": "Paediatric or syndromic cardiomyopathy"
    },
    {
      "code": "R136.1",
      "display": "Primary lymphoedema"
    },
    {
      "code": "R328.1",
      "display": "Progressive cardiac conduction disease"
    },
    {
      "code": "R130.1",
      "display": "Short QT syndrome"
    },
    {
      "code": "R138.1",
      "display": "Sudden unexplained death or survivors of a cardiac event"
    },
    {
      "code": "R240.1",
      "display": "Diagnostic testing for known variant(s)"
    },
    {
      "code": "R242.1",
      "display": "Predictive testing for known familial variant(s)"
    },
    {
      "code": "R361.1",
      "display": "Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing"
    },
    {
      "code": "R361.2",
      "display": "Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing"
    },
    {
      "code": "R372.1",
      "display": "Newborn screening for sickle cell disease in a transfused baby"
    },
    {
      "code": "R93.1",
      "display": "Sickle cell, thalassaemia and other haemoglobinopathies"
    },
    {
      "code": "R93.2",
      "display": "Sickle cell, thalassaemia and other haemoglobinopathies"
    },
    {
      "code": "M119.1"
    },
    {
      "code": "M119.2"
    },
    {
      "code": "M119.4"
    },
    {
      "code": "M119.5"
    },
    {
      "code": "M120.1"
    },
    {
      "code": "M120.2"
    },
    {
      "code": "M120.3"
    },
    {
      "code": "M120.4"
    },
    {
      "code": "M120.5"
    },
    {
      "code": "M120.6"
    },
    {
      "code": "M120.7"
    },
    {
      "code": "M120.8"
    },
    {
      "code": "M120.9"
    },
    {
      "code": "M120.10"
    },
    {
      "code": "M120.11"
    },
    {
      "code": "M120.12"
    },
    {
      "code": "M120.13"
    },
    {
      "code": "M120.14"
    },
    {
      "code": "M120.15"
    },
    {
      "code": "M120.16"
    }
  ]
}