Severe Congenital Neutropenia Type 4, Autosomal Recessive

Preferred Label : Severe Congenital Neutropenia Type 4, Autosomal Recessive;

NCIt synonyms : SCN4; Dursun Syndrome; Neutropenia, Severe Congenital, 4, Autosomal Recessive;

NCIt related terms : SCN 4-Autosomal Recessive;

NCIt definition : Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the G6PC3 gene, encoding glucose-6-phosphatase 3. It is characterized by cardiac abnormalities, hepatosplenomegaly, intermittent thrombocytopenia and a prominent superficial venous pattern.;

Details

Origin ID

C176611;

UMLS CUI

C2751630;

Currated CISMeF NLP mapping
- Autosomal recessive severe congenital neutropaenia due to G6PC3 deficiency [ICD-11 More detail]
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [ORDO Disease]
- Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder) [SNOMED CT concept]
- Dursun syndrome [ICD-11 More detail]
- Dursun syndrome [ORDO Disease]
- Neutropenia, severe congenital, 4, autosomal recessive [OMIM Phenotype]
- autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [Disease (Nov.)]
- dursun syndrome [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 4 [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal recessive 4 [MeSH concept]
- severe congenital neutropenia 4 [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 recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder) [SNOMED CT concept]
- Dursun syndrome [ICD-11 More detail]
- Neutropenia, severe congenital, 4, autosomal recessive [OMIM Phenotype]
- dursun syndrome [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 4 [MeSH Supplementary 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]
disease_mapped_to_gene
- G6PC3 Gene [NCIt concept]
related_to_genetic_biomarker
- G6PC3 Gene [NCIt concept]

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