Congenital Neutropenia

Preferred Label : Congenital Neutropenia;

NCIt related terms : genetic infantile agranulocytosis; infantile genetic agranulocytosis;

NCIt definition : A rare congenital disorder characterized by mild or severe reduction of neutrophils in the peripheral blood and recurrent infantile infections.;

Alternative definition : NCI-GLOSS: An inherited disorder in which there is a lower-than-normal number of neutrophils (a type of white blood cell that is important in fighting infections). Infants with the disorder get infections caused by bacteria, and are at an increased risk of acute myelogenous leukemia (AML) or myelodysplasia (a bone marrow disorder).;

Codes from synonyms : CDR0000661341; CDR0000661340; CDR0000644749;

Details

Origin ID

C61242;

UMLS CUI

C0340970;

Automatic exact mappings (from CISMeF team)
- Agranulocytosis [ICD-10 category (who)]
Currated CISMeF NLP mapping
- Congenital neutropenia [PASCAL descriptor]
- Congenital neutropenia [MedDRA LLT]
- Congenital neutropenia (disorder) [SNOMED CT concept]
- autosomal dominant or sporadic congenital neutropenia [MeSH concept]
- congenital neutropenia [Disease (Nov.)]
- congenital neutropenia [SNOMED Notion]
- obsolete Congenital neutropenia [HPO term]
- severe congenital neutropenia [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- Congenital neutropenia [ICD-9 code]
- Constitutional neutropaenia [ICD-11 Sub-sub category]
- Constitutional neutropenia [ORDO Disease]
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- Congenital agranulocytosis [HPO term]
- Congenital neutropenia [ICD-9 code]
- Congenital neutropenia [MedDRA LLT]
- Congenital neutropenia (disorder) [SNOMED CT concept]
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
- Infantile genetic agranulocytosis [ICD-11 More detail]
- Kostmann syndrome [ICD-11 More detail]
- Kostmann syndrome [ORDO Disease]
- Kostmann syndrome [PASCAL descriptor]
- Kostmann syndrome (disorder) [SNOMED CT concept]
- Kostmann's syndrome [MedDRA LLT]
- Neutropenia, severe congenital, 3, autosomal recessive [OMIM Phenotype]
- Severe congenital neutropenia [ORDO Disease]
- autosomal dominant or sporadic congenital neutropenia [MeSH concept]
- congenital neutropenia [SNOMED Notion]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
- obsolete Congenital neutropenia [HPO term]
- severe congenital neutropenia [DO Concept]
Validated automatic mappings to BTNT
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- Infantile genetic agranulocytosis [ICD-11 More detail]
- Kostmann syndrome [PASCAL descriptor]
- Kostmann syndrome [ORDO Disease]
- Kostmann syndrome [ICD-11 More detail]
- Kostmann syndrome (disorder) [SNOMED CT concept]
- Kostmann's syndrome [MedDRA LLT]
- Neutropenia, severe congenital, 3, autosomal recessive [OMIM Phenotype]
- Severe congenital neutropenia [ORDO Disease]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]

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