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loading...| Preferred Name |
Thrombophilia, hereditary |
| ID |
http://purl.bioontology.org/ontology/MESH/C540694 |
| cui |
C2584620 |
| HM |
D019851 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
258 |
| 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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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/ICD10CM/D68.5 | International Classification of Diseases, Version 10 - Clinical Modification | CUI |