Neutropenia, nonimmune chronic idiopathic, of adults

Preferred Label : Neutropenia, nonimmune chronic idiopathic, of adults;

CISMeF acronym : NI-CINA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nonimmune chronic idiopathic neutropenia of adults; NI-CINA;

Description : Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) is a relatively mild form of neutropenia diagnosed in adults but predisposing to leukemia in a subset of patients (Papadaki et al., 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth factor independent 1 gene (GFI1, 600871.0002);

Prefixed ID : #607847;

Détails

Origin ID

607847;

UMLS CUI

C1842930;

Currated CISMeF NLP mapping
- Adult chronic idiopathic neutropenia (disorder) [SNOMED CT concept]
- Adult idiopathic neutropaenia [ICD-11 More detail]
- Adult idiopathic neutropenia [ORDO Disease]
- neutropenia, nonimmune chronic idiopathic, adult [MeSH Supplementary Concept]
- neutropenia, nonimmune chronic idiopathic, adult [MeSH concept]
Genes related to phenotype
- Growth factor-independent 1 [OMIM gene]
HPO term(s)
- Acute myeloid leukemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Neutropenia [HPO term]
ORDO concept(s)
- Adult idiopathic neutropenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult idiopathic neutropenia [ORDO Disease]
- neutropenia, nonimmune chronic idiopathic, adult [MeSH Supplementary Concept]
- neutropenia, nonimmune chronic idiopathic, adult [MeSH concept]
Validated automatic mappings to NTBT
- Adult idiopathic neutropaenia [ICD-11 More detail]

Position du mot-clé dans l'(les) arborescence(s) :

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