neutropenia, severe congenital, autosomal recessive 4

Preferred Label : neutropenia, severe congenital, autosomal recessive 4;

MeSH note : aka SCN4;

MeSH synonym : Scn4; Pulmonary Arterial Hypertension, Leukopenia, And Atrial Septal Defect; Dursun Syndrome;

Details

Origin ID

C567260;

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 [ORDO Disease]
- Dursun syndrome [ICD-11 More detail]
- 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.)]
- severe congenital neutropenia 4 [DO Concept]
MeSH term(s) associated for indexing
- neutropenia [MeSH Descriptor]
Record concept(s)
- neutropenia, severe congenital, autosomal recessive 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [MedDRA Preferred Term]
- Neutropenia, severe congenital, 4, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia Type 4, Autosomal Recessive [NCIt concept]

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