Factor V Leiden

Preferred Label : Factor V Leiden;

NCIt synonyms : Factor V Leiden Mutation;

NCIt definition : An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage.;

Details

Origin ID

C98573;

UMLS CUI

C0584960;

Currated CISMeF NLP mapping
- Factor V Leiden mutation [MedDRA Preferred Term]
- Factor V Leiden mutation (disorder) [SNOMED CT concept]
- factor v Leiden thrombophilia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Factor V Leiden mutation [MedDRA Preferred Term]
- Factor V Leiden mutation (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- F5 NM_000130.4:c.1601G>A [NCIt concept]
disease_mapped_to_gene
- F5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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