dursun syndrome

Preferred Label : dursun syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0568104;

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 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]
- Severe Congenital Neutropenia Type 4, Autosomal Recessive [NCIt concept]
- autosomal recessive severe congenital neutropenia due to G6PC3 deficiency [Disease (Nov.)]
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 [ICD-11 More detail]
- Dursun syndrome [MedDRA Preferred Term]
- Neutropenia, severe congenital, 4, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia Type 4, Autosomal Recessive [NCIt concept]