Cyclic neutropenia

Preferred Label : Cyclic neutropenia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cyclic hematopoiesis;

Description : Cyclic neutropenia is a rare disease characterized by regular 21-day cyclic fluctuations in the number of blood neutrophils, monocytes, eosinophils, lymphocytes, platelets, and reticulocytes. The recurrent severe neutropenia causes patients to experience periodic symptoms of fever, malaise, mucosal ulcers, and, rarely, life-threatening infections. The disease occurs both as a congenital disorder and in an acquired form, with essentially identical phenotypic presentations (summary by Migliaccio et al., 1990).;

Inheritance : Autosomal dominant;

Prefixed ID : #162800;

Détails

Origin ID

162800;

UMLS CUI

C0221023;

Automatic exact mappings (from CISMeF team)
- Agranulocytosis [ICD-10 category (who)]
- cyclic hematopoiesis [DO Concept]
Currated CISMeF NLP mapping
- Cyclic Neutropenia [NCIt concept]
- Cyclic neutropaenia [ICD-11 More detail]
- Cyclic neutropenia [HPO term]
- Cyclic neutropenia [ICD-9 code]
- Cyclic neutropenia [MedDRA Preferred Term]
- Cyclic neutropenia [MeSH concept]
- Cyclic neutropenia [ORDO Disease]
- Cyclical neutropenia (disorder) [SNOMED CT concept]
- cyclic neutropenia [Disease (Nov.)]
- cyclic neutropenia [MeSH Supplementary Concept]
- cyclic neutropenia [SNOMED Notion]
DO Cross reference
- cyclic hematopoiesis [DO Concept]
Genes related to phenotype
- Elastase, neutrophil-expressed [OMIM gene]
HPO term(s)
- Abnormality of the mouth [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cyclic neutropenia [HPO term]
- Fever [HPO term]
- Neutropenia [HPO term]
ORDO concept(s)
- Cyclic neutropenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cyclic Neutropenia [NCIt concept]
- Cyclic neutropaenia [ICD-11 More detail]
- Cyclic neutropenia [ICD-9 code]
- Cyclic neutropenia [MedDRA Preferred Term]
- Cyclic neutropenia [ORDO Disease]
- Cyclic neutropenia [MeSH concept]
- Cyclic neutropenia [HPO term]
- Cyclical neutropenia (disorder) [SNOMED CT concept]
- cyclic hematopoiesis [DO Concept]
- cyclic neutropenia [MeSH Supplementary Concept]
- cyclic neutropenia [SNOMED Notion]
- cyclic neutropenia [Disease (Nov.)]

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

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