Bernard-Soulier syndrome

Preferred Label : Bernard-Soulier syndrome;

ICD-11 definition : Bernard-Soulier Syndrome, also known as hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts.;

ICD-11 inclusion : giant platelet syndrome;

Details

Origin ID

507309898;

UMLS CUI

C0005129;

Currated CISMeF NLP mapping
- 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 [DO Concept]
- Bernard-Soulier syndrome [ORDO Disease]
- Bernard-Soulier syndrome [MedDRA LLT]
- Bernard-Soulier syndrome [MeSH concept]
- Bernard-Soulier syndrome [MedDRA Preferred Term]
- Bernard-soulier syndrome [OMIM Phenotype]
- Giant platelet syndrome (disorder) [SNOMED CT concept]
- bernard soulier syndrome [SNOMED Notion]
- bernard-soulier syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [MedDRA LLT]
- Bernard-Soulier syndrome [MeSH concept]
- Bernard-Soulier syndrome [ORDO Disease]
- Bernard-Soulier syndrome [MedDRA Preferred Term]
- Bernard-soulier syndrome [OMIM Phenotype]
- Giant platelet syndrome (disorder) [SNOMED CT concept]
- bernard soulier syndrome [SNOMED Notion]
- bernard-soulier syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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