Neutropenia, Severe Congenital, X-Linked

Preferred Label : Neutropenia, Severe Congenital, X-Linked;

NCIt synonyms : SCNX;

NCIt related terms : Severe neutropenia - congenital X-Linked;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the WAS gene, encoding Wiskott-Aldrich syndrome protein. It is characterized by severe neutropenia and early onset severe bacterial infections.;

Details

Origin ID

C176818;

UMLS CUI

C1845987;

Currated CISMeF NLP mapping
- Neutropenia, severe congenital, X-linked [OMIM Phenotype]
- X-linked severe congenital neutropaenia [ICD-11 More detail]
- X-linked severe congenital neutropenia [DO Concept]
- X-linked severe congenital neutropenia [ORDO Disease]
- X-linked severe congenital neutropenia (disorder) [SNOMED CT concept]
- neutropenia, severe congenital, X-Linked [MeSH concept]
- neutropenia, severe congenital, X-Linked [MeSH Supplementary Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neutropenia, severe congenital, X-linked [OMIM Phenotype]
- X-linked severe congenital neutropaenia [ICD-11 More detail]
- X-linked severe congenital neutropenia [DO Concept]
- X-linked severe congenital neutropenia (disorder) [SNOMED CT concept]
- neutropenia, severe congenital, X-Linked [MeSH Supplementary Concept]
- neutropenia, severe congenital, X-Linked [MeSH concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- WAS Gene [NCIt concept]

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