Factor XII deficiency

Preferred Label : Factor XII deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hageman factor deficiency; F12 deficiency; Haf deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : #234000;

Details

Origin ID

234000;

UMLS CUI

C0015526;

Automatic exact mappings (from CISMeF team)
- Congenital factor XIII deficiency [ORDO Disease]
- Factor XII Deficiency [NCIt concept]
- Factor XII deficiency [PASCAL descriptor]
- Factor XII deficiency disease (disorder) [SNOMED CT concept]
- 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]
- Hereditary Factor XII Deficiency [NCIt concept]
- Reduced factor XII activity [HPO term]
- factor XII deficiency [MeSH Descriptor]
- factor XII deficiency [MeSH concept]
DO Cross reference
- factor XII deficiency [DO Concept]
Genes related to phenotype
- Coagulation factor XII [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prolonged whole-blood clotting time [HPO term]
- Reduced factor XII activity [HPO term]
ORDO concept(s)
- Congenital factor XII deficiency [ORDO Disease]
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 [MedDRA Preferred Term]
- Factor XII deficiency disease (disorder) [SNOMED CT concept]
- Reduced factor XII activity [HPO term]
- factor XII deficiency [MeSH Descriptor]
- factor XII deficiency [MeSH concept]
- factor XII deficiency [DO Concept]
- factor xii deficiency disease, nos [SNOMED Notion]

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