X-linked severe congenital neutropaenia

Preferred Label : X-linked severe congenital neutropaenia;

ICD-11 definition : X-linked severe congenital neutropaenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropaenia, and monocytopaenia.;

Details

Origin ID

452924218;

UMLS CUI

C1845987;

Currated CISMeF NLP mapping
- Neutropenia, Severe Congenital, X-Linked [NCIt concept]
- Neutropenia, severe congenital, X-linked [OMIM Phenotype]
- X-linked severe congenital neutropenia [ORDO Disease]
- X-linked severe congenital neutropenia [DO Concept]
- X-linked severe congenital neutropenia (disorder) [SNOMED CT concept]
- neutropenia, severe congenital, X-Linked [MeSH concept]
- neutropenia, severe congenital, X-Linked [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neutropenia, Severe Congenital, X-Linked [NCIt concept]
- Neutropenia, severe congenital, X-linked [OMIM Phenotype]
- X-linked severe congenital neutropenia [ORDO Disease]
- X-linked severe congenital neutropenia [DO Concept]
- X-linked severe congenital neutropenia (disorder) [SNOMED CT concept]
- neutropenia, severe congenital, X-Linked [MeSH concept]
- neutropenia, severe congenital, X-Linked [MeSH Supplementary Concept]

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