Severe Congenital Neutropenia

Preferred Label : Severe Congenital Neutropenia;

NCIt synonyms : SCN;

NCIt definition : A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections.;

Details

Origin ID

C166152;

UMLS CUI

C1853118;

Automatic exact mappings (from CISMeF team)
- Neutropenia, severe congenital [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Congenital neutropenia (disorder) [SNOMED CT concept]
- Infantile genetic agranulocytosis [ICD-11 More detail]
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
- Severe congenital neutropaenia [ICD-11 More detail]
- Severe congenital neutropenia [ORDO Disease]
- autosomal dominant or sporadic congenital neutropenia [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH concept]
- severe congenital neutropenia [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- Infantile genetic agranulocytosis [ICD-11 More detail]
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
- Kostmann syndrome [ORDO Disease]
- Kostmann syndrome [PASCAL descriptor]
- 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]
Validated automatic mappings to BTNT
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- 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]
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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