North West Genomic Medicine Service Alliance
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North West Genomic Medicine Service Alliance - Local Development build (v0.0.7) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

ValueSet: Genomic Condition Codes

Official URL: https://nw-gmsa.github.io/ValueSet/genomic-condition-codes Version: 0.0.7
Draft as of 2025-08-20 Computable Name: GenomicConditionCodes

2nd level classification of Genomic Test Directory

References

Logical Definition (CLD)

 

Expansion

Expansion based on code system fragment https://nw-gmsa.github.io/CodeSystem/GenomicConditionCode Genomic Condition Code v0.0.7 (CodeSystem)

Expansion performed internally based on codesystem Genomic Condition Code v0.0.7 (CodeSystem)

This value set contains at least 12 concepts

CodeSystemDisplay
  R361https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeChildhood onset hereditary spastic paraplegia
  R362https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeNot present in 8.0
  R372https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeNewborn screening for sickle cell disease in a transfused baby
  R93https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeSickle cell, thalassaemia and other haemoglobinopathies
  R94https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeNot present in 8.0
  R413https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeAutoinflammatory Disorders
  R67https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeMonogenic hearing loss
  R141https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeMonogenic diabetes
  R142https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeGlucokinase-related fasting hyperglycaemia
  R201https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeAtypical haemolytic uraemic syndrome
  M9https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeThyroid Papillary Carcinoma - Adult
  M215https://nw-gmsa.github.io/CodeSystem/GenomicConditionCodeEndometrial Cancer

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code