bernard-soulier syndrome

Preferred Label : bernard-soulier syndrome;

MeSH definition : A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.;

MeSH synonym : platelet syndromes, giant; syndromes, giant platelet; syndrome, giant platelet; syndrome, bernard-soulier; giant platelet syndrome; bernard soulier syndrome;

CISMeF synonym : bernard-soulier's syndrome;

Related MeSH term : deficiency of platelet glycoprotein 1b; Von Willebrand Factor Receptor Deficiency; Platelet Glycoprotein Ib Deficiency; Platelet Glycoprotein 1b, Deficiency of; Glycoprotein Ib, Platelet, Deficiency Of;

Wikipedia link : https://en.wikipedia.org/wiki/Bernard-soulier syndrome;

Details

Origin ID

D001606;

UMLS CUI

C0005129;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Bernard Soulier syndrome [Disease (Nov.)]
- Bernard Soulier syndrome [PASCAL descriptor]
- Bernard Soulier syndrome (disorder) [SNOMED CT concept]
- Bernard-Soulier Syndrome [NCIt concept]
- Bernard-Soulier syndrome [DO Concept]
- Bernard-Soulier syndrome [ICD-11 More detail]
- Bernard-Soulier syndrome [MedDRA Preferred Term]
- Bernard-Soulier syndrome [ORDO Disease]
- Bernard-Soulier syndrome [MedDRA LLT]
- Bernard-soulier syndrome [OMIM Phenotype]
- Giant platelet syndrome (disorder) [SNOMED CT concept]
- bernard soulier syndrome [SNOMED Notion]
DO Cross reference
- Bernard-Soulier syndrome [DO Concept]
Manual BTNT mappings - CISMeF
- Mediterranean macrothrombocytopenia [ORDO Disease]
MeSH Descriptor(s) used for indexing
- platelet glycoprotein GPIb-IX complex [MeSH Descriptor]
ORDO relation(s)
- Bernard-Soulier syndrome [ORDO Disease]
Record concept(s)
- Bernard-Soulier syndrome [MeSH concept]
- deficiency of platelet glycoprotein 1b [MeSH concept]
Related MeSH Supplementary Concept(s)
- Bernard-Soulier syndrome, autosomal dominant [MeSH Supplementary Concept]
- Bernard-Soulier syndrome, type A [MeSH Supplementary Concept]
- Bernard-Soulier syndrome, type B [MeSH Supplementary Concept]
- Bernard-Soulier syndrome, type C [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bernard Soulier syndrome [PASCAL descriptor]
- Bernard Soulier syndrome [Disease (Nov.)]
- Bernard Soulier syndrome (disorder) [SNOMED CT concept]
- Bernard-Soulier Syndrome [NCIt concept]
- Bernard-Soulier syndrome [MedDRA LLT]
- Bernard-Soulier syndrome [ORDO Disease]
- Bernard-Soulier syndrome [DO Concept]
- Bernard-Soulier syndrome [ICD-11 More detail]
- Bernard-Soulier syndrome [MedDRA Preferred Term]
- Bernard-soulier syndrome [OMIM Phenotype]
- Giant platelet syndrome (disorder) [SNOMED CT concept]
- bernard soulier syndrome [SNOMED Notion]

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