XIG: CodeSystem/GenomicConditionCode

FHIR IG Statistics: CodeSystem/GenomicConditionCode

Package	nw-gmsa.github.io
Resource Type	CodeSystem
Id	GenomicConditionCode
FHIR Version	R4
Source	https://nw-gmsa.github.io/https://build.fhir.org/ig/nw-gmsa/R4/CodeSystem-GenomicConditionCode.html
URL	https://nw-gmsa.github.io/CodeSystem/GenomicConditionCode
Version	0.0.7
Status	draft
Date	2025-05-08
Name	GenomicConditionCode
Title	Genomic Condition Code
Realm	uk
Description	2nd level Genomic Test Directory Codes
Content	fragment

Resources that use this resource

ValueSet
genomic-condition-codes	Genomic Condition Codes

Resources that this resource uses

No resources found

Narrative

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

Generated Narrative: CodeSystem GenomicConditionCode

This case-sensitive code system https://nw-gmsa.github.io/CodeSystem/GenomicConditionCode provides a fragment that includes following codes:

Code	Display
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

Source

{
  "resourceType": "CodeSystem",
  "id": "GenomicConditionCode",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "url": "https://nw-gmsa.github.io/CodeSystem/GenomicConditionCode",
  "version": "0.0.7",
  "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"
    }
  ]
}