factor XII deficiency

Preferred Label : factor XII deficiency;

MeSH definition : An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.;

MeSH synonym : deficiencies, factor 12; factor deficiency, hageman; hageman factor deficiency; deficiency, factor xii; deficiencies, factor xii; deficiency, factor 12; factor 12 deficiencies; deficiency, hageman factor; coagulation factor 12 deficiency; factor xii deficiencies; hageman trait; factor 12 deficiency; Deficiency, Factor Twelve; Deficiencies, Factor Twelve; Factor Twelve Deficiencies; Factor Twelve Deficiency;

CISMeF synonym : trait, hageman;

MeSH annotation : a blood coag disord; DF: FACTOR XII DEFIC; a blood coag disord;

Details

Origin ID

D005175;

UMLS CUI

C0015526;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Contact factor deficiency (disorder) [SNOMED CT concept]
- Factor XII Deficiency [NCIt concept]
- 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]
- factor XII deficiency [DO Concept]
- factor XII deficiency [Blood Transfusion thesaurus concept]
Currated CISMeF NLP mapping
- Congenital factor XII deficiency [ORDO Disease]
- Factor XII deficiency [MedDRA Preferred Term]
- Factor XII deficiency [OMIM Phenotype]
- Hereditary Factor XII Deficiency [NCIt concept]
- Reduced factor XII activity [HPO term]
DO Cross reference
- factor XII deficiency [DO Concept]
False automatic mappings
- Congenital factor XIII deficiency [ORDO Disease]
HPO term
- Reduced factor XII activity [HPO term]
Indexing information
- factor XII Mie-1, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Rare hemorrhagic disorder due to a constitutional coagulation factors defect [ORDO Disease]
MeSH Descriptor(s) used for indexing
- factor XII [MeSH Descriptor]
Record concept(s)
- factor XII deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital factor XII deficiency [ORDO Disease]
- Factor XII Deficiency [NCIt concept]
- 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 disease, nos [SNOMED Notion]

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