ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema

Preferred Label : ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema;

MeSH note : mutation in NEMO gene;

MeSH synonym : OLEDAID; OL-EDA-ID Syndrome;

Détails

Origin ID

C564538;

UMLS CUI

C1845919;

CISMeF manual mappings
- Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome [ORDO Disease]
- Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema [OMIM Phenotype]
- OL-EDA-ID syndrome [ICD-11 More detail]
MeSH term(s) associated for indexing
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- ectodermal dysplasia [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- immunologic deficiency syndromes [MeSH Descriptor]
- lymphedema [MeSH Descriptor]
- osteopetrosis [MeSH Descriptor]
Record concept(s)
- ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome [ORDO Disease]
- Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema [OMIM Phenotype]

Position du mot-clé dans l'(les) arborescence(s) :

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