Hereditary Factor V Deficiency

Preferred Label : Hereditary Factor V Deficiency;

NCIt synonyms : Owren Disease;

NCIt definition : A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor V, resulting in bleeding.;

Alternative definition : NICHD: An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.;

Details

Origin ID

C98938;

UMLS CUI

C0015499;

Automatic exact mappings (from CISMeF team)
- Hereditary deficiency of other clotting factors [ICD-10 Sub-category]
- Hereditary factor V deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital factor V deficiency [ORDO Disease]
- Factor V deficiency [OMIM Phenotype]
- Factor V deficiency [MedDRA Preferred Term]
- Factor V deficiency (disorder) [SNOMED CT concept]
- Hereditary factor V deficiency disease (disorder) [SNOMED CT concept]
- blood clotting factor v deficiency [Disease (Nov.)]
- factor V deficiency [MeSH concept]
- factor v deficiency [MeSH Descriptor]
- factor v deficiency [Blood Transfusion thesaurus concept]
DO Cross reference
- factor V deficiency [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital factor V deficiency [ORDO Disease]
- Factor V deficiency [OMIM Phenotype]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- F5 Gene [NCIt concept]

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