Hereditary Factor XII Deficiency

Preferred Label : Hereditary Factor XII Deficiency;

NCIt synonyms : Factor XII Deficiency; Hereditary Hageman Factor Deficiency; Hereditary Factor XII Deficiency Disease;

NCIt definition : A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. It may be asymptomatic or manifest with bleeding.;

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

Details

Origin ID

C26770;

UMLS CUI

C0272334;

Automatic exact mappings (from CISMeF team)
- Factor XII deficiency [PASCAL descriptor]
- Factor XII deficiency disease (disorder) [SNOMED CT concept]
- Factor XIII deficiency [MedDRA Preferred Term]
- Hereditary factor XII deficiency [ICD-11 More detail]
- Hereditary factor XII deficiency disease (disorder) [SNOMED CT concept]
- factor XII deficiency [DO Concept]
- factor XII deficiency [Blood Transfusion thesaurus concept]
- factor XIII deficiency [MeSH concept]
- factor xiii deficiency [MeSH Descriptor]
- hereditary factor xii deficiency disease [SNOMED Notion]
Currated CISMeF NLP mapping
- Factor XII deficiency [MedDRA Preferred Term]
- Factor XII deficiency [OMIM Phenotype]
- Reduced factor XII activity [HPO term]
- factor XII deficiency [MeSH Descriptor]
- factor XII deficiency [MeSH concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary factor XII deficiency disease (disorder) [SNOMED CT concept]
- hereditary factor xii deficiency disease [SNOMED Notion]
concept_is_in_subset
- 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
- F12 Gene [NCIt concept]

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