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Medical Subject Headings
Last uploaded:
August 28, 2024
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| Preferred Name | Thrombophilia, hereditary | |
| Synonyms |
|
|
| ID |
http://purl.bioontology.org/ontology/MESH/C540694 |
|
| cui |
C2584620
|
|
| HM |
D019851
|
|
| Inverse of RB |
0
|
|
| Mapped to | ||
| MDA |
20100825
|
|
| MeSH Frequency |
378
|
|
| MMR |
20150818
|
|
| notation |
C540694
|
|
| prefLabel |
Thrombophilia, hereditary
|
|
| SC |
3
|
|
| Scope Statement |
Thrombophilia due to congenital factors. Germline mutations in the F5 gene have been identified for Protein C/Factor V Leiden (OMIM: 188055), in the HRG gene for histidine-rich glycoprotein deficiency (OMIM: 613116); PROC gene for PROTEIN C DEFICIENCY (OMIM: 176860); and the PROS1 gene for PROTEIN S DEFICIENCY (OMIM: 612336)
|
|
| TERMUI |
T751419
|
|
| TH |
ORD (2010)
|
|
| tui |
T047
|
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