Immunodeficiency 14

Preferred Label : Immunodeficiency 14;

Obsolete resource : true;

NCIt synonyms : Immunodeficiency 14; APDS; IMD14; Activated PI3K-Delta Syndrome;

NCIt definition : An autosomal dominant primary immunodeficiency caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by recurrent infections in the lungs, paranasal sinuses, and ears; lymphopenia, particularly B-cells and T-cells.;

NCIt note : See 'Immunodeficiency 14A, Autosomal Dominant(C187988)';

Concept status : Retired_Concept;

Details

Origin ID

C176015;

UMLS CUI

C3714976;

Automatic exact mappings (from CISMeF team)
- Pupil afferent light reaction normal (finding) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Activated PI3K-delta Syndrome [MeSH Supplementary Concept]
- Activated PI3K-delta Syndrome [MeSH concept]
- Activated PI3K-delta syndrome [ORDO Disease]
- Activated PI3K-delta syndrome (disorder) [SNOMED CT concept]
- Immunodeficiency 14a with lymphoproliferation, autosomal dominant [OMIM Phenotype]
- activated PI3K delta syndrome [Disease (Nov.)]
- immunodeficiency 14 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Activated PI3 kinase delta syndrome [MedDRA Preferred Term]
- Activated PI3K-delta Syndrome [MeSH Supplementary Concept]
- Activated PI3K-delta Syndrome [MeSH concept]
- Activated PI3K-delta syndrome [ORDO Disease]
- Activated PI3K-delta syndrome (disorder) [SNOMED CT concept]
- Immunodeficiency 14a with lymphoproliferation, autosomal dominant [OMIM Phenotype]
- activated PI3K delta syndrome [Disease (Nov.)]
- immunodeficiency 14 [DO Concept]

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