Familial hypercholesterolemia diagnostic codes
Metadata
- Coding system
 - SNOMED CT (UK Clinical Edition)
 - Coding system release
 - 41.0.0
 - Organisation
 - NHSD Primary Care Domain Refsets
 - Codelist ID
 - nhsd-primary-care-domain-refsets/fhyp_cod
 - Version Tag
 - 20250912
 - Version ID
 - 2050e691
 - Number of codes included
 - 18
 
About
Description
Taken from the `FHYP_COD` refset published by NHSD. Contains public sector information licensed under the UK Open Government Licence v3.0 (https://www.nationalarchives.gov.uk/doc/open-government-licence/version/3/).
References
Codelists are developed by a broad community of users for individual study purposes, which may or may not meet the needs of other studies. They should not be thought of as universal definitions of a particular condition.
We don't offer any guarantees about what they do or don't identify. Users should carefully check that any codelist meets their needs, and seek clinical input where appropriate.
| code | term | 
|---|---|
| 1264212004 | Lipoprotein (a) hyperlipoproteinemia | 
| 238040008 | Familial combined hyperlipidemia | 
| 238078005 | Familial hypercholesterolemia - homozygous | 
| 238079002 | Familial hypercholesterolemia - heterozygous | 
| 238081000 | Familial defective apolipoprotein B-100 | 
| 299465007 | Familial multiple lipoprotein-type hyperlipidemia | 
| 397915002 | Fredrickson type IIa hyperlipoproteinemia | 
| 398036000 | Familial hypercholesterolemia | 
| 398796005 | Familial type 3 hyperlipoproteinemia | 
| 403829002 | Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation | 
| 403830007 | Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation | 
| 403831006 | Familial hypercholesterolemia due to genetic defect of apolipoprotein B | 
| 473145005 | Possible familial hypercholesterolemia | 
| 513831000000107 | Possible heterozygous familial hypercholesterolaemia | 
| 698600006 | Heterozygous familial hypercholesterolemia suspected | 
| 767133009 | Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations | 
| 773726000 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | 
| 867261000000106 | Probable familial hypercholesterolaemia |