Severe congenital neutropaenia

Preferred Label : Severe congenital neutropaenia;

ICD-11 definition : Severe congenital neutropaenia is an immunodeficiency characterized by low levels of granulocytes ( 200/mm3) without an associated lymphocyte deficit. This neutropaenia leads to repeated bacterial or mycotic infections in various locations, mostly cutaneo-mucous, ear, nose, and throat, and pulmonary.;

Details

Origin ID

473816983;

Automatic exact mappings (from CISMeF team)
- Neutropenia, severe congenital [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Kostmann syndrome [PASCAL descriptor]
- Severe Congenital Neutropenia [NCIt concept]
- Severe congenital neutropenia [ORDO Disease]
- autosomal dominant or sporadic congenital neutropenia [MeSH concept]
- severe congenital neutropenia [DO Concept]
See also inter- (CISMeF)
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH concept]
Validated automatic mappings to NTBT
- Congenital neutropenia (disorder) [SNOMED CT concept]

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