X-Linked Severe Combined Immunodeficiency

Preferred Label : X-Linked Severe Combined Immunodeficiency;

NCIt synonyms : X-linked SCID;

NCIt related terms : XL IL2RG;

NCIt definition : An X-linked form of severe combined immunodeficiency characterized as T-cell negative, B-cell positive, NK cell negative, and with mutations in the IL2RG gene, resulting in an impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels.;

Details

Origin ID

C4682;

UMLS CUI

C1279481;

Automatic exact mappings (from CISMeF team)
- X linked severe combined immunodeficiency [MedDRA LLT]
Currated CISMeF NLP mapping
- Severe combined immunodeficiency T- B+ due to gamma chain deficiency [ICD-11 More detail]
- Severe combined immunodeficiency, X-linked [OMIM Phenotype]
- T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder) [SNOMED CT concept]
- T-B+ severe combined immunodeficiency due to gamma chain deficiency [ORDO Disease]
- X-Linked combined immunodeficiency diseases [MeSH concept]
- X-linked severe combined immunodeficiency [DO Concept]
- X-linked severe combined immunodeficiency (disorder) [Inactive SNOMED CT concept]
- x-linked combined immunodeficiency diseases [MeSH Descriptor]
DO Cross reference
- X-linked severe combined immunodeficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency, X-linked [OMIM Phenotype]
- Severe combined immunodeficiency T- B+ due to gamma chain deficiency [ICD-11 More detail]
- Severe combined immunodeficiency, X-linked [OMIM Phenotype]
- X linked severe combined immunodeficiency [MedDRA LLT]
- X-Linked combined immunodeficiency diseases [MeSH concept]
- X-linked severe combined immunodeficiency [DO Concept]
- X-linked severe combined immunodeficiency (disorder) [Inactive SNOMED CT concept]
- x-linked combined immunodeficiency diseases [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- IL2RG Gene [NCIt concept]
- IL2RG wt Allele [NCIt concept]
disease_mapped_to_gene
- IL2RG Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

Keyword's position in hierarchy(ies) :

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