NHS North West Genomics
0.0.8 - ci-build United Kingdom flag

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

ValueSet: Genomic Disorder Carrier

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)

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.ontoserver.csiro.au based on SNOMED CT United Kingdom edition 02-Jul 2025

This value set contains 48 concepts

SystemCodeDisplay (en)JSONXML
http://snomed.info/sct  750601000000104Antenatal screening shows carrier of significant haemoglobinopathy including sickle cell or thalassaemia
http://snomed.info/sct  384511000000103Antenatal screening shows non significant carrier of sickle cell or thalassaemia
http://snomed.info/sct  750571000000106Antenatal screening shows non significant haemoglobinopathy carrier
http://snomed.info/sct  384671000000109Antenatal screening shows significant carrier of sickle cell or thalassaemia
http://snomed.info/sct  1219071000000109Carrier of alpha plus thalassaemia
http://snomed.info/sct  66621000119108Carrier of alpha thalassaemia
http://snomed.info/sct  1219081000000106Carrier of alpha zero thalassaemia
http://snomed.info/sct  680035451000119103Carrier of Becker muscular dystrophy
http://snomed.info/sct  1219171000000108Carrier of beta plus thalassaemia
http://snomed.info/sct  66551000119101Carrier of beta thalassaemia
http://snomed.info/sct  1219181000000105Carrier of beta zero thalassaemia
http://snomed.info/sct  559151051000119108Carrier of Bloom syndrome
http://snomed.info/sct  98311000119105Carrier of Canavan disease
http://snomed.info/sct  66511000119102Carrier of chromosome translocation
http://snomed.info/sct  66541000119103Carrier of congenital cystic kidney disease
http://snomed.info/sct  66781000119102Carrier of Cowden syndrome
http://snomed.info/sct  1128411000000105Carrier of delta-beta thalassaemia disorder
http://snomed.info/sct  477380501000119109Carrier of dihydrolipoamide dehydrogenase deficiency
http://snomed.info/sct  66731000119103Carrier of Duchenne muscular dystrophy
http://snomed.info/sct  66461000119100Carrier of familial combined hyperlipidaemia
http://snomed.info/sct  98421000119108Carrier of familial dysautonomia
http://snomed.info/sct  66481000119109Carrier of familial hypercholesterolaemia
http://snomed.info/sct  494884791000119105Carrier of Fanconi anaemia group C
http://snomed.info/sct  66661000119103Carrier of fragile X chromosome
http://snomed.info/sct  697788021000119105Carrier of Gaucher disease
http://snomed.info/sct  66971000119103Carrier of haemochromatosis
http://snomed.info/sct  66601000119104Carrier of haemoglobinopathy C disorder
http://snomed.info/sct  66751000119109Carrier of haemoglobinopathy disorder
http://snomed.info/sct  66631000119106Carrier of haemoglobinopathy E disorder
http://snomed.info/sct  2365481000000106Carrier of hereditary persistence of fetal haemoglobin
http://snomed.info/sct  286481000119102Carrier of heritable cancer
http://snomed.info/sct  90671000119109Carrier of high risk cancer mutation gene
http://snomed.info/sct  1219301000000103Carrier of homozygous alpha plus thalassaemia
http://snomed.info/sct  754097021000119101Carrier of Joubert syndrome with oculorenal defect
http://snomed.info/sct  584836011000119107Carrier of maple syrup urine disease type IB
http://snomed.info/sct  195953191000119108Carrier of mucolipidosis type IV
http://snomed.info/sct  137511000119103Carrier of muscular dystrophy
http://snomed.info/sct  809087311000119106Carrier of Nebulin-related nemaline myopathy
http://snomed.info/sct  964190521000119101Carrier of Niemann-Pick disease type A
http://snomed.info/sct  481462461000119102Carrier of spinal muscular atrophy
http://snomed.info/sct  66921000119104Carrier of spinocerebellar ataxia
http://snomed.info/sct  218521311000119109Carrier of Usher syndrome type 1F
http://snomed.info/sct  864990181000119100Carrier of Usher syndrome type 2
http://snomed.info/sct  906902831000119100Carrier of Usher syndrome type 3
http://snomed.info/sct  66681000119107Carrier of Von Hippel-Lindau syndrome
http://snomed.info/sct  66721000119101Carrier of von Willebrand disease
http://snomed.info/sct  47461006Genetic disorder carrier
http://snomed.info/sct  302571000000101Newborn 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