Factor XII Deficiency

Preferred Label : Factor XII Deficiency;

Alternative definition : NICHD: A coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. It is not associated with increased bleeding risk.;

Details

Origin ID

C131740;

UMLS CUI

C0015526;

Automatic exact mappings (from CISMeF team)
- Factor XII deficiency [PASCAL descriptor]
- Factor XII deficiency [OMIM Phenotype]
- Factor XII deficiency [MedDRA Preferred Term]
- Factor XII deficiency disease (disorder) [SNOMED CT concept]
- Reduced factor XII activity [HPO term]
- factor XII deficiency [MeSH concept]
- factor XII deficiency [MeSH Descriptor]
- factor XII deficiency [DO Concept]
- factor XII deficiency [Blood Transfusion thesaurus concept]
DO Cross reference
- factor XII 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 XII deficiency [ORDO Disease]
- Factor XII deficiency [OMIM Phenotype]
- Factor XII deficiency [MedDRA Preferred Term]
- Factor XII deficiency disease (disorder) [SNOMED CT concept]
- Reduced factor XII activity [HPO term]
- factor XII deficiency [DO Concept]
- factor XII deficiency [MeSH Descriptor]
- factor XII deficiency [MeSH concept]
- factor xii deficiency disease, nos [SNOMED Notion]
concept_is_in_subset
- NICHD 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]
related_to_genetic_biomarker
- F12 Gene [NCIt concept]

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