Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
ValueSet Genomics FH SNOMED CT Codes
| Usage |
|---|
A ValueSet to identify the SNOMED-CT codes for use in Familial hypercholesterolaemia reporting as recommended by The National Cholesterol Working Group |
HTML View
This value set includes codes from the following code systems:
The following codes from system:
SNOMED_CTCode Display 163841000237109 Familial hypercholesterolaemia comprehensive genetic test result 163851000237107 Familial hypercholesterolaemia targeted genetic test result 204871000237101 Apolipoprotein B gene mutation positive 204901000237101 Apolipoprotein E gene mutation positive 204881000237104 Proprotein convertase subtilisin/kexin type 9 gene mutation positive 204891000237102 Low density lipoprotein receptor gene mutation positive 204931000237105 Genetic variant causing familial hypercholesterolaemia not detected 1669121000000107 Genetic variant of uncertain significance for familial hypercholesterolaemia detected 238078005 Familial hypercholesterolemia - homozygous 238079002 Familial hypercholesterolemia - heterozygous 403830007 Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation
Table View
| ValueSet.id[0] | genomics-FH-SNOMED-CT-codes |
| ValueSet.url[0] | https://fhir.nhs.uk/ValueSet/genomics-FH-SNOMED-CT-codes |
| ValueSet.version[0] | 0.1.0 |
| ValueSet.name[0] | GenomicsFHSNOMEDCTCodes |
| ValueSet.title[0] | Genomics FH SNOMED CT Codes |
| ValueSet.status[0] | draft |
| ValueSet.date[0] | 2026-01-20T14:15:00+00:00 |
| ValueSet.publisher[0] | NHS England |
| ValueSet.contact[0].name[0] | NHS England |
| ValueSet.contact[0].telecom[0].system[0] | |
| ValueSet.contact[0].telecom[0].value[0] | interoperabilityteam@nhs.net |
| ValueSet.description[0] | A ValueSet to identify the SNOMED-CT codes for use in Familial hypercholesterolaemia reporting as recommended by The National Cholesterol Working Group |
| ValueSet.copyright[0] | Copyright © 2026+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html. |
| ValueSet.compose[0].include[0].system[0] | http://snomed.info/sct |
| ValueSet.compose[0].include[0].concept[0].code[0] | 163841000237109 |
| ValueSet.compose[0].include[0].concept[0].display[0] | Familial hypercholesterolaemia comprehensive genetic test result |
| ValueSet.compose[0].include[0].concept[1].code[0] | 163851000237107 |
| ValueSet.compose[0].include[0].concept[1].display[0] | Familial hypercholesterolaemia targeted genetic test result |
| ValueSet.compose[0].include[0].concept[2].code[0] | 204871000237101 |
| ValueSet.compose[0].include[0].concept[2].display[0] | Apolipoprotein B gene mutation positive |
| ValueSet.compose[0].include[0].concept[3].code[0] | 204901000237101 |
| ValueSet.compose[0].include[0].concept[3].display[0] | Apolipoprotein E gene mutation positive |
| ValueSet.compose[0].include[0].concept[4].code[0] | 204881000237104 |
| ValueSet.compose[0].include[0].concept[4].display[0] | Proprotein convertase subtilisin/kexin type 9 gene mutation positive |
| ValueSet.compose[0].include[0].concept[5].code[0] | 204891000237102 |
| ValueSet.compose[0].include[0].concept[5].display[0] | Low density lipoprotein receptor gene mutation positive |
| ValueSet.compose[0].include[0].concept[6].code[0] | 204931000237105 |
| ValueSet.compose[0].include[0].concept[6].display[0] | Genetic variant causing familial hypercholesterolaemia not detected |
| ValueSet.compose[0].include[0].concept[7].code[0] | 1669121000000107 |
| ValueSet.compose[0].include[0].concept[7].display[0] | Genetic variant of uncertain significance for familial hypercholesterolaemia detected |
| ValueSet.compose[0].include[0].concept[8].code[0] | 238078005 |
| ValueSet.compose[0].include[0].concept[8].display[0] | Familial hypercholesterolemia - homozygous |
| ValueSet.compose[0].include[0].concept[9].code[0] | 238079002 |
| ValueSet.compose[0].include[0].concept[9].display[0] | Familial hypercholesterolemia - heterozygous |
| ValueSet.compose[0].include[0].concept[10].code[0] | 403830007 |
| ValueSet.compose[0].include[0].concept[10].display[0] | Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation |
XML View
</telecom>
</contact>
<description value="A ValueSet to identify the SNOMED-CT codes for use in Familial hypercholesterolaemia reporting as recommended by The National Cholesterol Working Group" />
<copyright value="Copyright © 2026+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html." />
</concept>
</concept>
</concept>
</concept>
</concept>
</concept>
</concept>
<display value="Genetic variant of uncertain significance for familial hypercholesterolaemia detected" />
</concept>
</concept>
</concept>
<display value="Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation" />
</concept>
</include>
</compose>
</ValueSet>
JSON View
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