Visualize Submit Comment
Metadata
ID DOID:2219
Name Glanzmann's thrombasthenia
Definition An inherited blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
https://www.ncbi.nlm.nih.gov/pubmed/16463284, https://www.ncbi.nlm.nih.gov/pubmed/2014236, https://www.ncbi.nlm.nih.gov/pubmed/9160670
Xrefs

GARD:2478

ICD10CM:D69.1

MESH:D013915

MTHICD9_2006:287.1

NCI:C61249

OMIM:273800

ORDO:849

SNOMEDCT_US_2018_03_01:30577005

SNOMEDCT_US_2018_03_01:32942005

UMLS_CUI:C0040015

Subsets

NCIthesaurus

Synonyms

BDPLT2 [EXACT]

deficiency of glycoprotein complex IIb-IIIa [EXACT]

deficiency of GP IIb-IIIa complex [EXACT]

deficiency of platelet fibrinogen receptor [EXACT]

Glanzmann thrombasthenia [EXACT]

Glycoprotein IIb/IIIa defect [EXACT]

platelet glycoprotein IIb-IIIa deficiency [EXACT]

platelet-type bleeding disorder 2 [EXACT]

thrombasthenia of Glanzmann and Naegeli [EXACT]

Thrombocytasthenia [EXACT]

Parent Relationships

is_a inherited blood coagulation disease

Add an item to the term tracker