Immunodeficiency 14A, Autosomal Dominant

Preferred Label : Immunodeficiency 14A, Autosomal Dominant;

NCIt synonyms : IMD14A; APDS; Activated PI3K-delta Syndrome; Immunodeficiency 14;

NCIt definition : An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood.;

NCI Metathesaurus CUI : CL1792888;

Details

Origin ID

C187988;

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]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PIK3CD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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