NHS North West Genomics
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NHS North West Genomics - Local Development build (v0.0.8) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

ValueSet: Genomic Disorder Carrier

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicDisorderCarrier Version: 0.0.8
Draft as of 2025-11-05 Computable Name: GenomicDisorderCarrier

Genomic Disorder Carrier

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

  • Include codes fromhttp://snomed.info/sct version Not Stated (use latest from terminology server) where concept is-a 47461006 (Genetic disorder carrier)

 

Expansion

Expansion from tx.fhir.org based on SNOMED CT United Kingdom edition 12-Apr 2023

This value set expansion contains 32 concepts.

SystemCodeDisplay (en)JSONXML
http://snomed.info/sct  47461006Genetic disorder carrier
http://snomed.info/sct  66511000119102Carrier of chromosome translocation (finding)
http://snomed.info/sct  66551000119101Carrier of beta thalassemia (finding)
http://snomed.info/sct  66601000119104Carrier of hemoglobinopathy C disorder (finding)
http://snomed.info/sct  66621000119108Carrier of alpha thalassemia (finding)
http://snomed.info/sct  66631000119106Carrier of hemoglobinopathy E disorder (finding)
http://snomed.info/sct  66661000119103Carrier of fragile X chromosome (finding)
http://snomed.info/sct  66721000119101Carrier of von Willebrand disease (finding)
http://snomed.info/sct  66731000119103Carrier of Duchenne muscular dystrophy (finding)
http://snomed.info/sct  66751000119109Carrier of hemoglobinopathy disorder (finding)
http://snomed.info/sct  66781000119102Carrier of Cowden syndrome
http://snomed.info/sct  66971000119103Carrier of haemochromatosis
http://snomed.info/sct  90671000119109Carrier of high risk cancer mutation gene (finding)
http://snomed.info/sct  98311000119105Carrier of Canavan disease (finding)
http://snomed.info/sct  98421000119108Carrier of familial dysautonomia (finding)
http://snomed.info/sct  137511000119103Carrier of muscular dystrophy (finding)
http://snomed.info/sct  286481000119102Carrier of heritable cancer (finding)
http://snomed.info/sct  302571000000101Newborn blood spot screening programme, carrier of other haemoglobin type (finding)
http://snomed.info/sct  384511000000103Antenatal screening shows non significant carrier of sickle cell or thalassaemia (finding)
http://snomed.info/sct  384671000000109Antenatal screening shows significant carrier of sickle cell or thalassaemia (finding)
http://snomed.info/sct  750571000000106Antenatal screening shows non significant haemoglobinopathy carrier (finding)
http://snomed.info/sct  750601000000104Antenatal screening shows carrier of significant haemoglobinopathy including sickle cell or thalassaemia (finding)
http://snomed.info/sct  1128411000000105Carrier of delta-beta thalassaemia disorder
http://snomed.info/sct  1219071000000109Carrier of alpha plus thalassaemia
http://snomed.info/sct  1219081000000106Carrier of alpha zero thalassaemia (finding)
http://snomed.info/sct  1219171000000108Carrier of beta plus thalassaemia (finding)
http://snomed.info/sct  1219181000000105Carrier of beta zero thalassaemia
http://snomed.info/sct  1219301000000103Carrier of homozygous alpha plus thalassaemia (finding)
http://snomed.info/sct  481462461000119102Carrier of spinal muscular atrophy (finding)
http://snomed.info/sct  559151051000119108Carrier of Bloom syndrome
http://snomed.info/sct  680035451000119103Carrier of Becker muscular dystrophy (finding)
http://snomed.info/sct  697788021000119105Carrier of Gaucher disease (finding)

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