Ectodermal Dysplasia and Immunodeficiency 1

Preferred Label : Ectodermal Dysplasia and Immunodeficiency 1;

NCIt synonyms : NEMO Deficiency Syndrome; EDAID1;

NCIt related terms : IKBKG/NEMO;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the IKBKG gene, encoding NF-kappa-B essential modulator (NEMO). It is characterized by the onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. Affected individuals may present with ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair.;

Details

Origin ID

C176592;

UMLS CUI

C1846008;

Currated CISMeF NLP mapping
- Ectodermal dysplasia and immunodeficiency 1 [OMIM Phenotype]
- Hyper-IgM immunodeficiency, X-Linked, with ectodermal dysplasia, hypohidrotic [MeSH Supplementary Concept]
- Hyper-IgM immunodeficiency, X-Linked, with ectodermal dysplasia, hypohidrotic [MeSH concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia and immunodeficiency 1 [OMIM Phenotype]
- Hyper-IgM immunodeficiency, X-Linked, with ectodermal dysplasia, hypohidrotic [MeSH Supplementary Concept]
- Hyper-IgM immunodeficiency, X-Linked, with ectodermal dysplasia, hypohidrotic [MeSH concept]
Validated automatic mappings to NTBT
- Anhidrotic ectodermal dysplasia with immune deficiency (disorder) [SNOMED CT concept]
- Ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH concept]
- Hypohidrotic ectodermal dysplasia with immunodeficiency [ORDO Disease]
- ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH Supplementary Concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- IKBKG Gene [NCIt concept]
related_to_genetic_biomarker
- IKBKG Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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