OMOP Concept 37471418
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB GOF mutation
StandardConditionSNOMED1366698006Disorder
Maps from
0
Descendants
0
Valid from
1 Jun 2025
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB GOF mutation across source vocabularies.
- Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation
- Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder)
- displasia ectodérmica anhidrótica con deficiencia inmunitaria debida a mutación de ganancia de función de IKBKB
- displasia ectodérmica anhidrótica con deficiencia inmunitaria debida a mutación de ganancia de función de inhibidor de factor nuclear kappa B cinasa subunidad B
- displasia ectodérmica anhidrótica con deficiencia inmunitaria debida a mutación de ganancia de función de inhibidor de factor nuclear kappa B cinasa subunidad B (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(76)Roll up to these when you need a wider cohort.
- 1Anhidrotic ectodermal dysplasia with immune deficiency
- 1Autosomal dominant hereditary disorder
- 1Developmental hereditary disorder
- 1Hereditary disorder of immune system
- 1Hereditary disorder of the integument
- 1Hereditary disorder of tooth
- 2Autosomal hereditary disorder
- 2Congenital immunodeficiency disease
- 2Developmental disorder
- 2Digestive system hereditary disorder
- 2Disorder of immune function
- 2Disorder of integument
- 2Ectodermal syndrome with hair-tooth-sweating defects
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Primary immune deficiency disorder
- 2Tooth disorder
- 3Congenital disease
- 3Disease
- 3Disorder of body system
- 3Disorder of digestive organ
- 3Disorder of digestive system
- 3Disorder of teeth AND/OR supporting structures
- 3Ectodermal dysplasia with hair-tooth defects
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