Genetically proven familial hypercholesterolaemia codes
Codelist metadata
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Coding system
- SNOMED CT
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Coding system release
- unknown
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Organisation
- NHSD Primary Care Domain Refsets
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Codelist ID
- nhsd-primary-care-domain-refsets/fhypgen_cod
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Version Tag
- 20200812
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Version ID
- 6db466e3
Versions
About
Description
Taken from the FHYPGEN_COD refset published by NHSD.
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 Arg3500Gln 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 |
| 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 hypercholesterolaemia targeted genetic test |
| 925221000000106 | Familial hypercholesterolaemia comprehensive genetic test |
Codes not in the full codelist are in faint grey.