Inborn Error of Immunity

Preferred Label : Inborn Error of Immunity;

NCIt synonyms : Primary Immunodeficiency Disorder; Primary Immune Deficiency Disorder; IEI; Primary Immunodeficiency; Primary Immunodeficiency Syndrome; PID;

NCIt definition : A group of immunodeficiencies caused by damaging germline mutations in single genes. Patients are at an increased risk to develop infections, autoimmunity, bone marrow failure, and malignancies, usually lymphomas.;

Details

Origin ID

C152105;

UMLS CUI

C0398686;

Automatic exact mappings (from CISMeF team)
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- Primary immune deficiency disorder (disorder) [SNOMED CT concept]
- Primary immunodeficiency syndrome [MedDRA Preferred Term]
- Primary immunodeficiency syndromes [MedDRA High Level Term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- Primary immune deficiency disorder (disorder) [SNOMED CT concept]
- Primary immunodeficiency [ORDO Disease]
- Primary immunodeficiency syndrome [MedDRA Preferred Term]
- Primary immunodeficiency syndromes [MedDRA High Level Term]
- primary immune deficiency [Disease (Nov.)]
- primary immune deficiency disorder, nos [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_disease
- Inborn Error of Immunity-Associated Cutaneous T-Cell Lymphoproliferative Disorder [NCIt concept]

Keyword's position in hierarchy(ies) :

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