Factor VII deficiency

Preferred Label : Factor VII deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : F7 deficiency; HYPOPROCONVERTINEMIA;

Description : Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al., 2000). Perry (2002) provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, and a summary of 120 mutations.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coagulation factor VII gene (F7, 613878.0001);

Laboratory abnormalities : Factor VII deficiency;

Prefixed ID : #227500;

Details

Origin ID

227500;

UMLS CUI

C0015503;

Automatic exact mappings (from CISMeF team)
- factor VII deficiency [DO Concept]
Currated CISMeF NLP mapping
- Congenital factor VII deficiency [ORDO Disease]
- Factor VII Deficiency [NCIt concept]
- Factor VII deficiency [MedDRA Preferred Term]
- Factor VII deficiency (disorder) [SNOMED CT concept]
- Hereditary Factor VII Deficiency [NCIt concept]
- Reduced factor VII activity [HPO term]
- blood clotting factor vii deficiency [Disease (Nov.)]
- factor VII deficiency [MeSH concept]
- factor vii deficiency [Blood Transfusion thesaurus concept]
- factor vii deficiency [MeSH Descriptor]
- factor vii deficiency, nos [SNOMED Notion]
Genes related to phenotype
- Coagulation factor VII [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Epistaxis [HPO term]
- Intracranial hemorrhage [HPO term]
- Intramuscular hematoma [HPO term]
- Joint hemorrhage [HPO term]
- Menorrhagia [HPO term]
- Reduced factor VII activity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Congenital factor VII deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital factor VII deficiency [ORDO Disease]
- Factor VII Deficiency [NCIt concept]
- Factor VII deficiency [MedDRA Preferred Term]
- Factor VII deficiency (disorder) [SNOMED CT concept]
- factor VII deficiency [MeSH concept]
- factor VII deficiency [DO Concept]
- factor vii deficiency [MeSH Descriptor]
- factor vii deficiency, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Hereditary deficiency of other clotting factors [ICD-10 Sub-category]

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