Neutropenia, chronic familial

Preferred Label : Neutropenia, chronic familial;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Leukopenia, benign familial;

Inheritance : Autosomal dominant form; recessive forms more frequent;

Prefixed ID : %162700;

Details

Origin ID

162700;

UMLS CUI

C3665676;

Automatic exact mappings (from CISMeF team)
- leukopenia, benign familial [MeSH concept]
- neutropenia, severe chronic [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Chronic familial neutropenia (disorder) [SNOMED CT concept]
- neutropenia, chronic familial [MeSH concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Clubbing [HPO term]
- Clubbing of fingers [HPO term]
- Gingivitis [HPO term]
- Increased circulating antibody level [HPO term]
- Neutropenia [HPO term]
- Periodontitis [HPO term]
- Premature loss of teeth [HPO term]
See also inter- (CISMeF)
- leukopenia, benign familial [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic familial neutropenia (disorder) [SNOMED CT concept]
- neutropenia, chronic familial [MeSH concept]

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