National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Wiskott-Aldrich Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3448

ALT_DEFINITION

An inherited immune disorder that occurs in young boys. It causes eczema (a type of skin inflammation), a decrease in the number of platelets (blood cells that help prevent bleeding), and frequent bacterial infections. People with Wiskott-Aldrich syndrome are at increased risk of developing leukemia and lymphoma.

A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenic purpura, 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.

code

C3448

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

Contributing_Source

CTRP

DEFINITION

A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common.

Display_Name

Wiskott-Aldrich Syndrome

FULL_SYN

Aldrich syndrome

label

Wiskott-Aldrich Syndrome

Legacy_Concept_Name

Wiskott-Aldrich_Syndrome

Preferred_Name

Wiskott-Aldrich Syndrome

prefixIRI

C3448

prefLabel

Wiskott-Aldrich Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0043194

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27871

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3266

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http://purl.obolibrary.org/obo/DOID_9169 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D014923 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/301000 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/ICD10/D82.0 International Classification of Diseases, Version 10 LOOM
http://purl.bioontology.org/ontology/ICD10CM/D82.0 International Classification of Diseases, Version 10 - Clinical Modification LOOM