Glanzmann Thrombasthenia

Preferred Label : Glanzmann Thrombasthenia;

NCIt synonyms : Thrombasthenia;

NCIt definition : A rare, autosomal recessive inherited and less frequently acquired platelet disorder. It is characterized by deficient or dysfunctional glycoprotein IIb/IIIa complex. It leads to defective platelet aggregation, resulting in bleeding.;

Alternative definition : NICHD: A rare, autosomal recessive inherited, and less frequently acquired, platelet disorder that is characterized by deficient or dysfunctional glycoprotein IIb/IIIa complex, which leads to defective platelet aggregation, resulting in bleeding.;

Details

Origin ID

C61249;

UMLS CUI

C0040015;

Automatic exact mappings (from CISMeF team)
- Abnormality of thrombocytes [HPO term]
- Thrombasthenia [PASCAL descriptor]
- haemophilia [Blood Transfusion thesaurus concept]
Currated CISMeF NLP mapping
- Decreased platelet glycoprotein IIb-IIIa [HPO term]
- Glanzmann disease [Disease (Nov.)]
- Glanzmann thrombasthenia [PASCAL descriptor]
- Glanzmann thrombasthenia [ICD-11 More detail]
- Glanzmann thrombasthenia [OMIM phenotypic series]
- Glanzmann thrombasthenia [ORDO Disease]
- Glanzmann thrombasthenia 1 [OMIM Phenotype]
- Glanzmann's disease [MedDRA LLT]
- Glanzmann's disease [MedDRA Preferred Term]
- Glanzmann's thrombasthenia [DO Concept]
- Glanzmann's thrombasthenia (disorder) [SNOMED CT concept]
- Hereditary thrombasthenia [MedDRA LLT]
- Thrombasthenia [HPO term]
- Thrombasthenia [MedDRA Preferred Term]
- hereditary thromboasthenia, nos [SNOMED Notion]
- thrombasthenia [MeSH Descriptor]
- thrombasthenia [MeSH concept]
DO Cross reference
- Glanzmann's thrombasthenia [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glanzmann disease [Disease (Nov.)]
- Glanzmann thrombasthenia [ORDO Disease]
- Glanzmann thrombasthenia 1 [OMIM Phenotype]
- Glanzmann's disease [MedDRA LLT]
- Glanzmann's disease [MedDRA Preferred Term]
- Glanzmann's thrombasthenia [DO Concept]
- Glanzmann's thrombasthenia (disorder) [SNOMED CT concept]
- Hereditary thrombasthenia [MedDRA LLT]
- THROMBOASTHENIA [WHO-ART Included Term]
- Thrombasthenia [HPO term]
- Thrombasthenia [MedDRA Preferred Term]
- Thromboasthenia [MedDRA LLT]
- hereditary thromboasthenia, nos [SNOMED Notion]
- thrombasthenia [MeSH concept]
- thrombasthenia [MeSH Descriptor]
Validated automatic mappings to BTNT
- Glanzmann thrombasthenia, type A [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]

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