Hereditary Factor II Deficiency

Preferred Label : Hereditary Factor II Deficiency;

NCIt synonyms : Factor II Deficiency; Hereditary Prothrombin Deficiency; Hereditary Hypoprothrombinemia;

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

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

Details

Origin ID

C26799;

UMLS CUI

C0272317;

Automatic exact mappings (from CISMeF team)
- Hereditary factor II deficiency [ICD-11 More detail]
- Hereditary factor II deficiency disease (disorder) [SNOMED CT concept]
- Hypoprothrombinemia [PASCAL descriptor]
- factor II deficiency [Blood Transfusion thesaurus concept]
- prothrombin deficiency [DO Concept]
Currated CISMeF NLP mapping
- Factor II deficiency [MedDRA Preferred Term]
- Hypoprothrombinaemia [MedDRA Preferred Term]
- Hypoprothrombinemia [MedDRA LLT]
- PROTHROMBIN TIME PROLONGED [WHO-ART Included Term]
- Prothrombin deficiency [MedDRA LLT]
- factor ii deficiency [TUV Concept]
- factor ii deficiency, nos [SNOMED Notion]
- hypoprothrombinemias [MeSH Descriptor]
- hypoprothrombinemias [MeSH concept]
False automatic mappings
- Factor II deficiency (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Factor II deficiency [MedDRA Preferred Term]
- Hereditary factor II deficiency disease (disorder) [SNOMED CT concept]
- Prothrombin deficiency, congenital [OMIM Phenotype]
- dysprothrombinemia [MeSH Supplementary Concept]
- dysprothrombinemia [MeSH concept]
- hereditary factor ii deficiency disease [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital factor II deficiency [ORDO Disease]
- blood clotting factor ii deficiency [Disease (Nov.)]
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
- F2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients