Dursun syndrome

Preferred Label : Dursun syndrome;

ICD-11 definition : Dursun syndrome is a genetic disorder characterized by familial pulmonary arterial hypertension, cardiac abnormalities including atrial septal defect, leukopenia including intermittent neutropenia, lymphopenia, monocytosis, and anemia.;

ICD-11 synonym : Pulmonary arterial hypertension - leukopenia - atrial septal defect;

Details

Origin ID

232201917;

UMLS CUI

C2751630;

Currated CISMeF NLP mapping
- Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder) [SNOMED CT concept]
- Dursun syndrome [ORDO Disease]
- Neutropenia, severe congenital, 4, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia Type 4, Autosomal Recessive [NCIt concept]
- 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]
See also inter- (CISMeF)
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [ORDO Disease]
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 [ORDO Disease]
- Dursun syndrome [MedDRA Preferred Term]
- Neutropenia, severe congenital, 4, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia Type 4, Autosomal Recessive [NCIt concept]
- dursun syndrome [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 4 [MeSH Supplementary Concept]

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