Severe Congenital Neutropenia Type 5, Autosomal Recessive

Preferred Label : Severe Congenital Neutropenia Type 5, Autosomal Recessive;

NCIt synonyms : SCN5; Neutropenia, Severe Congenital, 5, Autosomal Recessive;

NCIt related terms : SCN 5-Autosomal Recessive;

NCIt definition : Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the VPS45 gene, encoding vacuolar protein sorting-associated protein 45. It is characterized by neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.;

Details

Origin ID

C176612;

UMLS CUI

C3809031;

Currated CISMeF NLP mapping
- Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) [SNOMED CT concept]
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome [ORDO Disease]
- Neutropenia, severe congenital, 5, autosomal recessive [OMIM Phenotype]
- severe congenital neutropenia 5 [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)
- Neutropenia, severe congenital, 5, autosomal recessive [OMIM Phenotype]
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]
related_to_genetic_biomarker
- VPS45 Gene [NCIt concept]

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