Bernard-Soulier Syndrome

Preferred Label : Bernard-Soulier Syndrome;

NCIt related terms : Platelet Glycoprotein Ib Deficiency;

NCIt definition : A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding time and the presence of giant platelets.;

Alternative definition : NICHD: A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding and the presence of giant platelets.;

Details

Origin ID

C84595;

UMLS CUI

C0005129;

Automatic exact mappings (from CISMeF team)
- Bernard-Soulier syndrome, type A [MeSH concept]
- Bernard-Soulier syndrome, type A [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Bernard Soulier syndrome [Disease (Nov.)]
- Bernard Soulier syndrome [PASCAL descriptor]
- Bernard Soulier syndrome (disorder) [SNOMED CT concept]
- Bernard-Soulier syndrome [DO Concept]
- Bernard-Soulier syndrome [ICD-11 More detail]
- Bernard-Soulier syndrome [MedDRA Preferred Term]
- Bernard-Soulier syndrome [MeSH concept]
- 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]
- bernard-soulier syndrome [MeSH Descriptor]
DO Cross reference
- Bernard-Soulier syndrome [DO 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 [ORDO Disease]
- Bernard-Soulier syndrome [MedDRA LLT]
- Bernard-Soulier syndrome [DO Concept]
- Bernard-Soulier syndrome [ICD-11 More detail]
- Bernard-Soulier syndrome [MedDRA Preferred Term]
- Bernard-Soulier syndrome [MeSH concept]
- Bernard-soulier syndrome [OMIM Phenotype]
- Giant platelet syndrome (disorder) [SNOMED CT concept]
- bernard soulier syndrome [SNOMED Notion]
- bernard-soulier syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- GP1BA Gene [NCIt concept]
- GP1BB Gene [NCIt concept]
- GP9 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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