Neutropenia, lethal congenital, with eosinophilia

Preferred Label : Neutropenia, lethal congenital, with eosinophilia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive; ? heterogeneous etiology;

Prefixed ID : 257100;

Details

Origin ID

257100;

UMLS CUI

C1850381;

Currated CISMeF NLP mapping
- neutropenia, lethal congenital, with eosinophilia [MeSH concept]
- neutropenia, lethal congenital, with eosinophilia [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Eosinophilia [HPO term]
- Neonatal death [HPO term]
- Neutropenia [HPO term]
- obsolete Congenital neutropenia [HPO term]
ORDO concept(s)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- neutropenia, lethal congenital, with eosinophilia [MeSH Supplementary Concept]
- neutropenia, lethal congenital, with eosinophilia [MeSH concept]

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