Factor V deficiency

Preferred Label : Factor V deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Labile factor deficiency; PARAHEMOPHILIA; Owren parahemophilia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coagulation factor V gene (F5, 612309.0004);

Laboratory abnormalities : Prolonged prothrombin time (PT); Prolonged activated partial thromboplastin time (APTT);

Prefixed ID : #227400;

Details

Origin ID

227400;

UMLS CUI

C0015499;

Automatic exact mappings (from CISMeF team)
- Factor X deficiency [PASCAL descriptor]
- Hereditary factor V deficiency [ICD-11 More detail]
- factor V deficiency [DO Concept]
- factor x deficiency [MeSH Descriptor]
- hypoprothrombinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital factor V deficiency [ORDO Disease]
- Factor V Deficiency [NCIt concept]
- Factor V deficiency [MedDRA Preferred Term]
- Factor V deficiency (disorder) [SNOMED CT concept]
- Hereditary Factor V Deficiency [NCIt concept]
- Hereditary factor V deficiency disease (disorder) [SNOMED CT concept]
- Reduced coagulation factor V activity [HPO term]
- blood clotting factor v deficiency [Disease (Nov.)]
- factor V deficiency [MeSH concept]
- factor v deficiency [Blood Transfusion thesaurus concept]
- factor v deficiency [MeSH Descriptor]
- factor v deficiency, nos [SNOMED Notion]
DO Cross reference
- factor V deficiency [DO Concept]
Genes related to phenotype
- Coagulation factor V [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Menorrhagia [HPO term]
- Prolonged bleeding time [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prolonged prothrombin time [HPO term]
- Prolonged whole-blood clotting time [HPO term]
- Reduced coagulation factor V activity [HPO term]
ORDO concept(s)
- Congenital factor V deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital factor V deficiency [ORDO Disease]
- Hereditary Factor V Deficiency [NCIt concept]
- Hereditary factor V deficiency disease (disorder) [SNOMED CT concept]
- Reduced coagulation factor V activity [HPO term]
- factor V deficiency [MeSH concept]
- factor V deficiency [DO Concept]
- factor v deficiency [MeSH Descriptor]
- factor v deficiency, nos [SNOMED Notion]
- hereditary factor v deficiency disease [SNOMED Notion]

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