neutropenia, severe congenital, autosomal dominant 1

Preferred Label : neutropenia, severe congenital, autosomal dominant 1;

MeSH note : PROM mutation in the neutrophil elastase gene ELANE;

Origin ID

C565969;

UMLS CUI

C1859966;

Currated CISMeF NLP mapping
- Neutropenia, severe congenital, 1, autosomal dominant [OMIM Phenotype]
- Severe Congenital Neutropenia Type 1, Autosomal Dominant [NCIt concept]
MeSH term(s) associated for indexing
- neutropenia [MeSH Descriptor]
Record concept(s)
- neutropenia, severe congenital, autosomal dominant 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neutropenia, severe congenital, 1, autosomal dominant [OMIM Phenotype]
- Severe Congenital Neutropenia Type 1, Autosomal Dominant [NCIt concept]