OMOP Concept 1449171
Autosomal dominant combined immunodeficiency due to ERBIN deficiency
StandardConditionSNOMED1351324009Disorder
Maps from
0
Descendants
0
Valid from
1 Nov 2024
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Autosomal dominant combined immunodeficiency due to ERBIN deficiency across source vocabularies.
- Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency
- Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency (disorder)
- Autosomal dominant hyperimmunoglobulin E syndrome due to ERBB2IP defect
- Autosomal dominant hyperimmunoglobulin E syndrome due to ERBIN deficiency
- inmunodeficiencia combinada autosómica dominante debida a deficiencia de ERBIN
- inmunodeficiencia combinada autosómica dominante debida a deficiencia de proteína de interacción erbb2
- inmunodeficiencia combinada autosómica dominante debida a deficiencia de proteína de interacción erbb2 (trastorno)
- síndrome de hiperinmunoglobulina E autosómico dominante debido a defecto del gen ERBB2IP
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(21)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Hyperimmunoglobulin E syndrome
- 2Autosomal hereditary disorder
- 2Combined immunodeficiency disease
- 2Genetic disease
- 2Immunoglobulin above reference range
- 3Disease
- 3Hereditary disease
- 3Immunoglobulins outside reference range
- 3Measurement finding above reference range
- 3Primary immune deficiency disorder
- 4Clinical finding
- 4Immunodeficiency disorder
- 4Immunoglobulin level - finding
- 4Measurement finding outside reference range
- 5Disorder of immune function
- 5Measurement finding
- 5Protein level - finding
- 6Evaluation finding
- 6Finding of substance level
- 7Procedure related finding
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