Wiskott-Aldrich syndrome

Preferred Label : Wiskott-Aldrich syndrome;

ICD-11 definition : Wiskott-Aldrich syndrome is a rare hereditary immune deficiency with recessive inheritance linked to the X chromosome (Xp11.22-p11.23), characterized by the association of thrombocytopenia with small-sized platelets, eczema and repeated infections. The deficiency occurs early in childhood, during the first decade and usually before the age of 3 years.;

ICD-11 synonym : Aldrich syndrome; Eczema-thrombocytopaenia-immunodeficiency syndrome; Immunodeficiency with thrombocytopenia and eczema;

ICD-11 inclusion : Immunodeficiency with thrombocytopenia and eczema;

Details

Origin ID

168952525;

UMLS CUI

C0043194;

Currated CISMeF NLP mapping
- Aldrich syndrome [MedDRA LLT]
- Wiskott Aldrich syndrome [Disease (Nov.)]
- Wiskott-Aldrich Syndrome [NCIt concept]
- Wiskott-Aldrich syndrome [DO Concept]
- Wiskott-Aldrich syndrome [MeSH concept]
- Wiskott-Aldrich syndrome [MedDRA Preferred Term]
- Wiskott-Aldrich syndrome [PASCAL descriptor]
- Wiskott-Aldrich syndrome [ORDO Disease]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category (who)]
- Wiskott-Aldrich syndrome (disorder) [SNOMED CT concept]
- Wiskott-aldrich syndrome [OMIM Phenotype]
- Wiskott-aldrich syndrome [ICD-9 code]
- Wiskott-aldrich syndrome [OMIM Phenotype]
- wiskott-aldrich syndrome [SNOMED Notion]
- wiskott-aldrich syndrome [MeSH Descriptor]
See also inter- (CISMeF)
- WASP actin nucleation promoting factor [ORDO Gene]
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 [DO Concept]
- Wiskott-Aldrich syndrome [ICD-10 Sub-category]
- Wiskott-Aldrich syndrome [MedDRA Preferred Term]
- Wiskott-Aldrich syndrome [MeSH concept]
- Wiskott-Aldrich syndrome [ORDO Disease]
- Wiskott-Aldrich syndrome [PASCAL descriptor]
- 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 [MeSH Descriptor]
- wiskott-aldrich syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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