Primary Immunodeficiency Diseases

Preferred Label : Primary Immunodeficiency Diseases;

MeSH definition : Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. They are often associated with AUTOIMMUNE DISEASE manifestations.;

MeSH synonym : Immunodeficiency Disease, Primary; Immunodeficiency Diseases, Primary; Primary Immunodeficiency Disorders; Immunodeficiency Disorder, Primary; Primary Immunodeficiency Syndromes; Immunodeficiency Syndrome, Primary; Immunodeficiency Syndromes, Primary; Primary Immunodeficiency Syndrome; Primary Immune Deficiency Diseases; Primary Immunodeficiency Disorder; Primary Immune Deficiency Syndromes; Primary Immune Deficiency Disease; Primary Immunodeficiency Disease; Primary Immune Deficiency Disorder; Primary Immune Deficiency Syndrome; Primary Immune Deficiency; Deficiency, Primary Immune; Immune Deficiency, Primary; Primary Immune Deficiencies; Primary Immune Deficiency Disorders;

MeSH hyponym : Immunodeficiency Disease, Congenital; Immunodeficiency Diseases, Congenital; Congenital Immunodeficiency Syndrome; Congenital Immunodeficiency Disease; Congenital Immunodeficiency Disorder; Congenital Immunodeficiency Disorders; Immunodeficiency Disorder, Congenital; Immunodeficiency Disorders, Congenital; Congenital Immunodeficiency Syndromes; Immunodeficiency Syndrome, Congenital; Immunodeficiency Syndromes, Congenital; Immunodeficiency Disease, Inherited; Immunodeficiency Diseases, Inherited; Inherited Immunodeficiency Syndrome; Inherited Immunodeficiency Disease; Inherited Immunodeficiency Disorder; Inherited Immunodeficiency Disorders; Immunodeficiency Disorder, Inherited; Immunodeficiency Disorders, Inherited; Inherited Immunodeficiency Syndromes; Immunodeficiency Syndrome, Inherited; Immunodeficiency Syndromes, Inherited; Antibody Deficiency, Primary; Primary Antibody Deficiency; Primary Antibody Deficiency Syndrome; Primary Antibody Deficiency Disorder; Primary Antibody Deficiency Disorders; Primary Antibody Deficiency Syndromes;

Wikipedia link : https://en.wikipedia.org/wiki/Primary immune deficiency;

Details

Origin ID

D000081207;

UMLS CUI

C0398686;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Common variable immunodeficiency [ORDO Disease]
- Primary Immunodeficiency Syndrome [NCIt concept]
- Primary immunodeficiency syndromes [MedDRA High Level Term]
- primary immunodeficiency disease [DO Concept]
- primitive Immunodeficiency disease [Blood Transfusion thesaurus concept]
Currated CISMeF NLP mapping
- Primary Immunodeficiency Pathway [NCIt concept]
- Primary immune deficiency disorder (disorder) [SNOMED CT concept]
- Primary immunodeficiencies [Bloc CIM-11]
- Primary immunodeficiency [ORDO Disease]
- Primary immunodeficiency syndrome [MedDRA Preferred Term]
- primary immune deficiency disorder, nos [SNOMED Notion]
Record concept(s)
- Congenital Immunodeficiency Diseases [MeSH concept]
- Inherited Immunodeficiency Diseases [MeSH concept]
- Primary Antibody Deficiencies [MeSH concept]
- Primary Immunodeficiency Diseases [MeSH concept]
Related MeSH Supplementary Concept(s)
- Activated PI3K-delta Syndrome [MeSH Supplementary Concept]
- B-Cell immunodeficiency, distal limb anomalies, and urogenital malformations [MeSH Supplementary Concept]
- CD8 deficiency, familial [MeSH Supplementary Concept]
- IRAK4 deficiency [MeSH Supplementary Concept]
- Kotzot-Richter syndrome [MeSH Supplementary Concept]
- MYD88 deficiency [MeSH Supplementary Concept]
- NEMO mutation with immunodeficiency [MeSH Supplementary Concept]
- Roifman-Chitayat syndrome [MeSH Supplementary Concept]
- T cell immunodeficiency primary [MeSH Supplementary Concept]
- WHIM syndrome [MeSH Supplementary Concept]
- antibody deficiency due to defect in CD19 [MeSH Supplementary Concept]
- cartilage hair hypoplasia like syndrome [MeSH Supplementary Concept]
- cartilage-hair hypoplasia [MeSH Supplementary Concept]
- ectodermal dysplasia, anhidrotic, with T-Cell immunodeficiency, autosomal dominant [MeSH Supplementary Concept]
- ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema [MeSH Supplementary Concept]
- ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH Supplementary Concept]
- enteropathy, familial, with villous edema and immunoglobulin G2 deficiency [MeSH Supplementary Concept]
- griscelli syndrome type 2 [MeSH Supplementary Concept]
- immune deficiency, familial variable [MeSH Supplementary Concept]
- immunodeficiency due to defect in CD3-Zeta [MeSH Supplementary Concept]
- immunodeficiency syndrome, variable [MeSH Supplementary Concept]
- immunodeficiency, X-Linked, with deficiency of 115,000 dalton surface glycoprotein [MeSH Supplementary Concept]
- immunodeficiency, hypogammaglobulinemia, and reduced B cells [MeSH Supplementary Concept]
- neutrophil immunodeficiency syndrome [MeSH Supplementary Concept]
- purine nucleoside phosphorylase deficiency [MeSH Supplementary Concept]
- riddle syndrome [MeSH Supplementary Concept]
- roifman syndrome [MeSH Supplementary Concept]
- schimke immunoosseous dysplasia [MeSH Supplementary Concept]
- splenic hypoplasia [MeSH Supplementary Concept]
- thumb agenesis, short stature, and immunodeficiency [MeSH Supplementary Concept]
- tuftsin deficiency [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Congenital immunodeficiency disease (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Immunodeficiency Syndrome [NCIt concept]
- Primary immune deficiency disorder (disorder) [SNOMED CT concept]
- 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]

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