Hereditary Factor VII Deficiency

Preferred Label : Hereditary Factor VII Deficiency;

NCIt definition : A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor VII, resulting in bleeding.;

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

Details

Origin ID

C98939;

UMLS CUI

C0272320;

Automatic exact mappings (from CISMeF team)
- Hereditary factor VII deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital factor VII deficiency [ORDO Disease]
- Factor VII deficiency [OMIM Phenotype]
- Factor VII deficiency [MedDRA Preferred Term]
- Factor VII deficiency (disorder) [SNOMED CT concept]
- blood clotting factor vii deficiency [Disease (Nov.)]
- factor VII deficiency [MeSH concept]
- factor vii deficiency [MeSH Descriptor]
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 VII deficiency disease (disorder) [SNOMED CT concept]
- hereditary factor vii deficiency syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- 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
- F7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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