GATA2 Deficiency

Preferred Label : GATA2 Deficiency;

MeSH definition : A rare disorder of the immune system with wide-ranging effects which include GATA2 Transcription Factor dysfunction, immunodeficiency, myelodysplastic syndrome (ineffective blood cell production), lung disease, and problems of the vascular and lymphatic system.;

MeSH synonym : GATA2 Deficiencies; Immunodeficiency type 21; MonoMac Syndrome; MonoMac Syndromes; GATA2 Haploinsufficiency; GATA2 Haploinsufficiencies;

Related MeSH term : Primary Lymphedema with Myelodysplasia;

Details

Origin ID

D000077428;

UMLS CUI

C3280030;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- deficiency [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [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)
- GATA2 deficiency [MedDRA Preferred Term]
- Immunodeficiency 21 [OMIM Phenotype]
- Lymphedema, primary, with myelodysplasia [OMIM Phenotype]
- MonoMAC syndrome [ICD-11 More detail]
- immunodeficiency 21 [DO Concept]
Currated CISMeF NLP mapping
- GATA2 Deficiency [NCIt concept]
DO Cross reference
- immunodeficiency 21 [DO Concept]
Record concept(s)
- Emberger Syndrome [MeSH concept]
- GATA2 Deficiency [MeSH concept]
- Myelodysplastic Syndrome Acute Myeloid Leukemia [MeSH concept]
- Natural Killer Cell Deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GATA2 Deficiency [NCIt concept]
- GATA2 deficiency [MedDRA Preferred Term]
- Immunodeficiency 21 [OMIM Phenotype]
- Monocytopenia with susceptibility to infections (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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