OMOP Concept 1449964
Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation
StandardConditionSNOMED1354480001Disorder
Maps from
0
Descendants
0
Valid from
1 Dec 2024
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation across source vocabularies.
- Autosomal dominant combined variable immunodeficiency due to SEC61A1 deficiency
- Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation
- Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder)
- Autosomal dominant CVID (combined variable immunodeficiency) due to SEC61A1 deficiency
- inmunodeficiencia combinada variable autosómica dominante debida a deficiencia de SEC61A1
- inmunodeficiencia combinada variable autosómica dominante debida a mutación de la subunidad alfa 1 del translocón SEC61
- inmunodeficiencia combinada variable autosómica dominante debida a mutación de la subunidad alfa 1 del translocón SEC61 (trastorno)
- inmunodeficiencia combinada variable autosómica dominante debida a mutación de SEC61A1
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Common variable immunodeficiency
- 1Hereditary disorder of immune system
- 2Autosomal hereditary disorder
- 2Disorder of immune function
- 2Disorder of immune structure
- 2Hereditary disorder by system
- 2Primary immune deficiency disorder
- 3Disease
- 3Disorder of body system
- 3Hereditary disease
- 3Immunodeficiency disorder
- 4Clinical finding
- 4Genetic disease
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