| Metadata | |
|---|---|
| ID | DOID:0111908 |
| Name | thrombophilia due to thrombomodulin defect |
| Definition | A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. https://pubmed.ncbi.nlm.nih.gov/22036808/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:1197595004 |
| Subsets |
DO_rare_slim |
| Synonyms |
THBD-related bleeding disorder [EXACT] THBD-related coagulopathy [EXACT] THPH12 [EXACT] thrombomodulin-related bleeding disorder [EXACT] thrombomodulin-related coagulopathy [EXACT] |
| Parent Relationships |
is_a thrombophilia |