Genetically proven familial hypercholesterolaemia 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/fhypgen_cod
- Version Tag
- 20250912
- Version ID
- 42a75b7d
- Number of codes included
- 18
About
Description
Taken from the `FHYPGEN_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 |
|---|---|
| 238078005 | Familial hypercholesterolemia - homozygous |
| 238079002 | Familial hypercholesterolemia - heterozygous |
| 238081000 | Familial defective apolipoprotein B-100 |
| 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 |
| 444032005 | Detection of mutation in apolipoprotein B-100 gene |
| 444078002 | Detection of Arg3527Gln mutation in apolipoprotein B-100 gene |
| 444226008 | Detection of mutation in low density lipoprotein receptor gene |
| 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 |
| 925161000000105 | Apolipoprotein B-100 single mutation genetic test |
| 925171000000103 | Apolipoprotein B-100 targeted genetic test |
| 925181000000101 | Low density lipoprotein receptor linkage genetic test |
| 925191000000104 | Low density lipoprotein receptor single mutation genetic test |
| 925201000000102 | Low density lipoprotein receptor comprehensive genetic test |
| 925211000000100 | Familial hypercholesterolemia targeted genetic test |
| 925221000000106 | Familial hypercholesterolemia comprehensive genetic test |