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Packagefhir.nwgenomics.nhs.uk
Resource TypeCodeSystem
IdCodeSystem-GenomicClinicalIndication.json
FHIR VersionR4
Sourcehttps://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/CodeSystem-GenomicClinicalIndication.html
URLhttps://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication
Version0.1.0
Statusdraft
Date2025-05-08
NameGenomicClinicalIndication
TitleNHS England Genomic Clinical Indication Code
Realmus
Authorityhl7
Description1st level Genomic Test Directory Codes
Contentfragment

Resources that use this resource

ValueSet
GenomicClinicalIndicationCodesGenomic Clinical Indication Codes

Resources that this resource uses

No resources found

Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: CodeSystem GenomicClinicalIndication

This case-sensitive code system https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication provides a fragment that includes following codes:

CodeDisplay
R240 Diagnostic testing for known mutation(s)
R361 Childhood onset hereditary spastic paraplegia
R362 Not present in 8.0
R372 Newborn screening for sickle cell disease in a transfused baby
R93 Sickle cell, thalassaemia and other haemoglobinopathies
R94 Not present in 8.0
R413 Autoinflammatory Disorders
R67 Monogenic hearing loss
R141 Monogenic diabetes
R142 Glucokinase-related fasting hyperglycaemia
R201 Atypical haemolytic uraemic syndrome
M9 Thyroid Papillary Carcinoma - Adult
M215 Endometrial Cancer

Source1

{
  "resourceType": "CodeSystem",
  "id": "GenomicClinicalIndication",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "url": "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
  "version": "0.1.0",
  "name": "GenomicClinicalIndication",
  "title": "NHS England Genomic Clinical Indication Code",
  "status": "draft",
  "experimental": false,
  "date": "2025-05-08",
  "publisher": "NHS North West Genomics",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "https://www.nwgenomics.nhs.uk/contact-us"
        }
      ]
    }
  ],
  "description": "1st 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": "R240",
      "display": "Diagnostic testing for known mutation(s)"
    },
    {
      "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"
    }
  ]
}