NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.1.4) 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: 2.1.4
Draft as of 2026-07-24 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 contains 32 concepts

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

Description of the above table(s).