Bleeding Disorder, Platelet-Type 17

Preferred Label : Bleeding Disorder, Platelet-Type 17;

NCIt synonyms : BDPLT17;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.;

Details

Origin ID

C142084;

UMLS CUI

C1861194;

Currated CISMeF NLP mapping
- Bleeding disorder, platelet-type, 17 [OMIM Phenotype]
- Thrombasthenia-Thrombocytopenia, hereditary [MeSH concept]
- Thrombasthenia-Thrombocytopenia, hereditary [MeSH Supplementary Concept]
- platelet-type bleeding disorder 17 [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)
- Bleeding disorder, platelet-type, 17 [OMIM Phenotype]
- Thrombasthenia-Thrombocytopenia, hereditary [MeSH Supplementary Concept]
- Thrombasthenia-Thrombocytopenia, hereditary [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus 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]
disease_mapped_to_gene
- GFI1B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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