NHS North West Genomics
            
            0.0.8 - ci-build
  
            
          
NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions
| Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicDisorderCarrier | Version: 0.0.8 | |||
| Draft as of 2025-10-31 | 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)
http://snomed.info/sct version Not Stated (use latest from terminology server) where concept  is-a 47461006 (Genetic disorder carrier)
Expansion from tx.ontoserver.csiro.au based on SNOMED CT United Kingdom edition 02-Jul 2025
This value set contains 48 concepts
| System | Code | Display (en) | JSON | XML | 
| http://snomed.info/sct | 750601000000104 | Antenatal screening shows carrier of significant haemoglobinopathy including sickle cell or thalassaemia | ||
| http://snomed.info/sct | 384511000000103 | Antenatal screening shows non significant carrier of sickle cell or thalassaemia | ||
| http://snomed.info/sct | 750571000000106 | Antenatal screening shows non significant haemoglobinopathy carrier | ||
| http://snomed.info/sct | 384671000000109 | Antenatal screening shows significant carrier of sickle cell or thalassaemia | ||
| http://snomed.info/sct | 1219071000000109 | Carrier of alpha plus thalassaemia | ||
| http://snomed.info/sct | 66621000119108 | Carrier of alpha thalassaemia | ||
| http://snomed.info/sct | 1219081000000106 | Carrier of alpha zero thalassaemia | ||
| http://snomed.info/sct | 680035451000119103 | Carrier of Becker muscular dystrophy | ||
| http://snomed.info/sct | 1219171000000108 | Carrier of beta plus thalassaemia | ||
| http://snomed.info/sct | 66551000119101 | Carrier of beta thalassaemia | ||
| http://snomed.info/sct | 1219181000000105 | Carrier of beta zero thalassaemia | ||
| http://snomed.info/sct | 559151051000119108 | Carrier of Bloom syndrome | ||
| http://snomed.info/sct | 98311000119105 | Carrier of Canavan disease | ||
| http://snomed.info/sct | 66511000119102 | Carrier of chromosome translocation | ||
| http://snomed.info/sct | 66541000119103 | Carrier of congenital cystic kidney disease | ||
| http://snomed.info/sct | 66781000119102 | Carrier of Cowden syndrome | ||
| http://snomed.info/sct | 1128411000000105 | Carrier of delta-beta thalassaemia disorder | ||
| http://snomed.info/sct | 477380501000119109 | Carrier of dihydrolipoamide dehydrogenase deficiency | ||
| http://snomed.info/sct | 66731000119103 | Carrier of Duchenne muscular dystrophy | ||
| http://snomed.info/sct | 66461000119100 | Carrier of familial combined hyperlipidaemia | ||
| http://snomed.info/sct | 98421000119108 | Carrier of familial dysautonomia | ||
| http://snomed.info/sct | 66481000119109 | Carrier of familial hypercholesterolaemia | ||
| http://snomed.info/sct | 494884791000119105 | Carrier of Fanconi anaemia group C | ||
| http://snomed.info/sct | 66661000119103 | Carrier of fragile X chromosome | ||
| http://snomed.info/sct | 697788021000119105 | Carrier of Gaucher disease | ||
| http://snomed.info/sct | 66971000119103 | Carrier of haemochromatosis | ||
| http://snomed.info/sct | 66601000119104 | Carrier of haemoglobinopathy C disorder | ||
| http://snomed.info/sct | 66751000119109 | Carrier of haemoglobinopathy disorder | ||
| http://snomed.info/sct | 66631000119106 | Carrier of haemoglobinopathy E disorder | ||
| http://snomed.info/sct | 2365481000000106 | Carrier of hereditary persistence of fetal haemoglobin | ||
| http://snomed.info/sct | 286481000119102 | Carrier of heritable cancer | ||
| http://snomed.info/sct | 90671000119109 | Carrier of high risk cancer mutation gene | ||
| http://snomed.info/sct | 1219301000000103 | Carrier of homozygous alpha plus thalassaemia | ||
| http://snomed.info/sct | 754097021000119101 | Carrier of Joubert syndrome with oculorenal defect | ||
| http://snomed.info/sct | 584836011000119107 | Carrier of maple syrup urine disease type IB | ||
| http://snomed.info/sct | 195953191000119108 | Carrier of mucolipidosis type IV | ||
| http://snomed.info/sct | 137511000119103 | Carrier of muscular dystrophy | ||
| http://snomed.info/sct | 809087311000119106 | Carrier of Nebulin-related nemaline myopathy | ||
| http://snomed.info/sct | 964190521000119101 | Carrier of Niemann-Pick disease type A | ||
| http://snomed.info/sct | 481462461000119102 | Carrier of spinal muscular atrophy | ||
| http://snomed.info/sct | 66921000119104 | Carrier of spinocerebellar ataxia | ||
| http://snomed.info/sct | 218521311000119109 | Carrier of Usher syndrome type 1F | ||
| http://snomed.info/sct | 864990181000119100 | Carrier of Usher syndrome type 2 | ||
| http://snomed.info/sct | 906902831000119100 | Carrier of Usher syndrome type 3 | ||
| http://snomed.info/sct | 66681000119107 | Carrier of Von Hippel-Lindau syndrome | ||
| http://snomed.info/sct | 66721000119101 | Carrier of von Willebrand disease | ||
| http://snomed.info/sct | 47461006 | Genetic disorder carrier | ||
| http://snomed.info/sct | 302571000000101 | Newborn blood spot screening programme, carrier of other haemoglobin type | 
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 |