Familial hypercholesterolemia disorders genetically confirmed codes
Metadata
- Coding system
- SNOMED CT (UK Clinical Edition)
- Coding system release
- 40.2.0
- Organisation
- NHSD Primary Care Domain Refsets
- Codelist ID
- nhsd-primary-care-domain-refsets/famhypgen_cod
- Version Tag
- 20250627
- Version ID
- 01d1ff0c
- Number of codes included
- 7
About
Description
Taken from the `FAMHYPGEN_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/).
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 |
| 767133009 | Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations |