wiskott-aldrich syndrome

Preferred Label : wiskott-aldrich syndrome;

MeSH definition : A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.;

MeSH synonym : aldrich syndrome; Eczema-Thrombocytopenia-Immunodeficiency syndrome; eczema thrombocytopenia immunodeficiency syndrome; Eczema-Thrombocytopenia-Immunodeficiency syndromes; wiskott aldrich syndrome; wiskott syndrome; Imd2; immunodeficiency 2; Wiskott Syndromes; Immunodeficiency 2s;

CISMeF synonym : Wiskott-Aldrich; wiskott-aldrich's syndrome; syndrome, Eczema-Thrombocytopenia-Immunodeficiency; syndrome, aldrich; syndrome, wiskott-aldrich; syndromes, Eczema-Thrombocytopenia-Immunodeficiency;

Wikipedia automatic translation : Wiskott–Aldrich syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Wiskott–Aldrich syndrome;

Details

Origin ID

D014923;

UMLS CUI

C0043194;

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)
- Actin Nucleation-Promoting Factor WAS [NCIt concept]
- WAS wt Allele [NCIt concept]
- WASF2 wt Allele [NCIt concept]
- WASL Gene [NCIt concept]
- WASP actin nucleation promoting factor [ORDO Gene]
Currated CISMeF NLP mapping
- Aldrich syndrome [MedDRA LLT]
- Wiskott Aldrich syndrome [Disease (Nov.)]
- Wiskott-Aldrich Syndrome [NCIt concept]
- Wiskott-Aldrich syndrome [PASCAL descriptor]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category]
- Wiskott-Aldrich syndrome [DO Concept]
- Wiskott-Aldrich syndrome [MedDRA Preferred Term]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category (who)]
- Wiskott-Aldrich syndrome [ICD-11 More detail]
- Wiskott-Aldrich syndrome [ORDO Disease]
- Wiskott-Aldrich syndrome (disorder) [SNOMED CT concept]
- Wiskott-aldrich syndrome [ICD-9 code]
- Wiskott-aldrich syndrome [OMIM Phenotype]
- Wiskott-aldrich syndrome [OMIM Phenotype]
- wiskott-aldrich syndrome [SNOMED Notion]
DO Cross reference
- Wiskott-Aldrich syndrome [DO Concept]
Has phenotype(s) (HPO)
- Bloody diarrhea [HPO term]
Manual NTBT mappings (CISMeF)
- Combined T and B cell immunodeficiency [ORDO Disease]
- Dense granule disease [ORDO Disease]
- Genetic immune deficiency with skin involvement [ORDO Disease]
- Immune deficiency with skin involvement [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
ORDO relation(s)
- Wiskott-Aldrich syndrome [ORDO Disease]
Record concept(s)
- Wiskott-Aldrich syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Wiskott-Aldrich syndrome, autosomal dominant form [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aldrich syndrome [MedDRA LLT]
- Wiskott Aldrich syndrome [Disease (Nov.)]
- Wiskott-Aldrich Syndrome [NCIt concept]
- Wiskott-Aldrich syndrome [ORDO Disease]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category]
- Wiskott-Aldrich syndrome [MedDRA Preferred Term]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category (who)]
- Wiskott-Aldrich syndrome [DO Concept]
- Wiskott-Aldrich syndrome [PASCAL descriptor]
- Wiskott-Aldrich syndrome [ICD-11 More detail]
- Wiskott-Aldrich syndrome (disorder) [SNOMED CT concept]
- Wiskott-aldrich syndrome [OMIM Phenotype]
- Wiskott-aldrich syndrome [OMIM Phenotype]
- Wiskott-aldrich syndrome [ICD-9 code]
- wiskott-aldrich syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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