Familial hypercholesterolemia diagnostic codes



Codelist metadata

Coding system

SNOMED CT

Coding system release

unknown

Organisation

NHSD Primary Care Domain Refsets

Codelist ID

nhsd-primary-care-domain-refsets/fhyp_cod

Version Tag

20200812

Version ID

06c3da19

Versions

About

Description

Taken from the FHYP_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
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 Suspected heterozygous familial hypercholesterolemia
767133009 Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
867261000000106 Probable familial hypercholesterolaemia

Codes not in the full codelist are in faint grey.