Autosomal Dominant Severe Congenital Neutropenia

Preferred Label : Autosomal Dominant Severe Congenital Neutropenia;

NCIt synonyms : Autosomal Dominant SCN;

NCIt definition : Severe congenital neutropenia inherited in an autosomal dominant pattern. Mutations in the ELANE gene have been reported in approximately half of the cases.;

NCI Metathesaurus CUI : CL495086;

Details

Origin ID

C166155;

UMLS CUI

C4749612;

Currated CISMeF NLP mapping
- Autosomal dominant severe congenital neutropaenia [ICD-11 More detail]
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- Autosomal dominant severe congenital neutropenia (disorder) [SNOMED CT concept]
- autosomal dominant 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 (disorder) [SNOMED CT 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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