Severe Congenital Neutropenia Type 7, Autosomal Recessive

Preferred Label : Severe Congenital Neutropenia Type 7, Autosomal Recessive;

NCIt synonyms : Neutropenia, Severe Congenital, 7, Autosomal Recessive; SCN7;

NCIt related terms : SCN 7-Autosomal Recessive;

NCIt definition : Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the CSF3R gene, encoding granulocyte colony-stimulating factor receptor. It is characterized by the onset of recurrent infections in infancy or early childhood and peripheral neutropenia, despite normal granulocyte maturation, that is unresponsive to treatment with G-CSF.;

NCI Metathesaurus CUI : CL602273;

Details

Origin ID

C176614;

UMLS CUI

C4310764;

Currated CISMeF NLP mapping
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [ORDO Disease]
- Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder) [SNOMED CT concept]
- Neutropenia, severe congenital, 7, autosomal recessive [OMIM Phenotype]
- severe congenital neutropenia 7 [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, 7, 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
- CSF3R Gene [NCIt concept]

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