Omenn Syndrome

Preferred Label : Omenn Syndrome;

NCIt definition : A genetically heterogenous autosomal recessive severe combined immunodeficiency syndrome. caused by mutation(s) in the RAG-1, RAG-2, and DCLRE1C genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea.;

Details

Origin ID

C61240;

UMLS CUI

C2700553;

Automatic exact mappings (from CISMeF team)
- severe combined immunodeficiency [MeSH Descriptor]
CISMeF manual mappings
- Severe combined immunodeficiency with hypereosinophilia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Histiocytic medullary reticulosis (disorder) [SNOMED CT concept]
- Omenn syndrome [PASCAL descriptor]
- Omenn syndrome [DO Concept]
- Omenn syndrome [Disease (Nov.)]
- Omenn syndrome [MedDRA Preferred Term]
- Omenn syndrome [OMIM Phenotype]
- Omenn syndrome [ORDO Disease]
- Severe combined immunodeficiency with hypereosinophilia [ICD-11 More detail]
- omenn syndrome [MeSH concept]
- reticuloendotheliosis, familial, with eosinophilia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Omenn syndrome [MedDRA Preferred Term]
- Omenn syndrome [OMIM Phenotype]
- Omenn syndrome [ORDO Disease]
associated_with_malfunction_of_gene_product
- Protein Artemis [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
disease_has_associated_gene
- DCLRE1C Gene [NCIt concept]
- DCLRE1C wt Allele [NCIt concept]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_mapped_to_gene
- DCLRE1C Gene [NCIt concept]
- RAG1 Gene [NCIt concept]
- RAG2 Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- DCLRE1C Gene [NCIt concept]
- RAG1 Gene [NCIt concept]
- RAG2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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