genetic variants test
Metadata
- Coding system
- SNOMED CT (UK Clinical Edition)
- Coding system release
- 42.2.0
- Latest compatible release
- 42.4.0 (2026-08-05)
- Author
- Brian MacKenna
- Codelist ID
- user/brian-mackenna/genetic-variants-test
- Version ID
- 36f9f886
- Number of codes included
- 25
About
Description
I made this to test number search capability on OpenCodelists
Methodology
Context
Is this for a specific purpose or context, if so what, or could it be used more broadly?
Inclusion/exclusion criteria
Describe the inclusion and exclusion criteria used to define the codelist.
Borderline cases
List any codes which were considered borderline, and explain why they were included/excluded.
Sensitivity vs specificity
Is the aim of this codelist to be specific (e.g. hypertension via confirmed diagnosis codes), or sensitive (e.g. flu via potential symptom codes)?
Additional information
Any other relevant information about the codelist.
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 |
|---|---|
| 1010397000 | Severe deficiency of glucose-6-phosphate dehydrogenase |
| 104700000 | Glucose-6-phosphate dehydrogenase measurement, quantitative |
| 104701001 | Glucose-6-phosphate dehydrogenase measurement, screen |
| 1107471000000109 | Enzyme activity of glucose-6-phosphate dehydrogenase in red blood cells |
| 1145530005 | Deficiency of glucose-6-phosphate dehydrogenase with normal enzyme activity |
| 1222667006 | Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis |
| 124134002 | Deficiency of glucose-6-phosphate dehydrogenase |
| 129645002 | Adult glucose-6-phosphate dehydrogenase deficiency of leukocytes syndrome |
| 165502009 | Glucose 6-phosphate dehydrogenase (& [red cell level]) |
| 165504005 | Red cell glucose 6-phosphate dehydrogenase screening test |
| 191172001 | Favism |
| 22933009 | Glucose-6-phosphate dehydrogenase deficiency class I variant anemia |
| 24661004 | Glucose-6-phosphate dehydrogenase deficiency class III variant anemia |
| 252298007 | Glucose-6-phosphate dehydrogenase deficiency spot test |
| 34852006 | Glucose-6-phosphate dehydrogenase deficiency class II variant anemia |
| 62403005 | Glucose-6-phosphate dehydrogenase deficiency anemia |
| 790281000000102 | Glucose-6-phosphate dehydrogenase genotype determination |
| 790901000000100 | Red blood cell glucose-6-phosphate dehydrogenase measurement |
| 80963002 | Glucose-6-phosphate dehydrogenase deficiency class V variant anemia |
| 82003006 | Glucose-6-phosphate dehydrogenase deficiency class IV variant anemia |
| 830231000000109 | Measurement of red blood cell glucose-6-phosphate dehydrogenase activity |
| 86859003 | Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia |
| 874900008 | Moderate deficiency of glucose-6-phosphate dehydrogenase |
| 9024005 | Glucose-6-phosphate dehydrogenase |
| 958541000000109 | Measurement of red blood cell glucose-6-phosphate dehydrogenase activity |
This page shows the search terms that were used to build the codelist. Concepts that match the search terms, but which were excluded, are in faint grey.
HbE thalassemia
Included 0 out of 0 matching concepts.
Show matching concepts
Hemoglobin E beta thalassemia
Included 0 out of 0 matching concepts.
Show matching concepts
Hemoglobin E beta-thalassemia
Included 0 out of 0 matching concepts.
Show matching concepts
PIEZO1
Included 1 out of 1 matching concepts.
Show matching concepts
-
Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (
1222667006)
g6pd
Included 24 out of 24 matching concepts.
Show matching concepts
-
Adult glucose-6-phosphate dehydrogenase deficiency of leukocytes syndrome (
129645002) -
Deficiency of glucose-6-phosphate dehydrogenase (
124134002) -
Deficiency of glucose-6-phosphate dehydrogenase with normal enzyme activity (
1145530005) -
Enzyme activity of glucose-6-phosphate dehydrogenase in red blood cells (
1107471000000109) -
Favism (
191172001) -
Glucose 6-phosphate dehydrogenase (& [red cell level]) (
165502009) -
Glucose-6-phosphate dehydrogenase (
9024005) -
Glucose-6-phosphate dehydrogenase deficiency anemia (
62403005) -
Glucose-6-phosphate dehydrogenase deficiency class I variant anemia (
22933009) -
Glucose-6-phosphate dehydrogenase deficiency class II variant anemia (
34852006) -
Glucose-6-phosphate dehydrogenase deficiency class III variant anemia (
24661004) -
Glucose-6-phosphate dehydrogenase deficiency class IV variant anemia (
82003006) -
Glucose-6-phosphate dehydrogenase deficiency class V variant anemia (
80963002) -
Glucose-6-phosphate dehydrogenase deficiency spot test (
252298007) -
Glucose-6-phosphate dehydrogenase genotype determination (
790281000000102) -
Glucose-6-phosphate dehydrogenase measurement, quantitative (
104700000) -
Glucose-6-phosphate dehydrogenase measurement, screen (
104701001) -
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (
86859003) -
Measurement of red blood cell glucose-6-phosphate dehydrogenase activity (
830231000000109) -
Measurement of red blood cell glucose-6-phosphate dehydrogenase activity (
958541000000109) -
Moderate deficiency of glucose-6-phosphate dehydrogenase (
874900008) -
Red blood cell glucose-6-phosphate dehydrogenase measurement (
790901000000100) -
Red cell glucose 6-phosphate dehydrogenase screening test (
165504005) -
Severe deficiency of glucose-6-phosphate dehydrogenase (
1010397000)