Hereditary Factor XI Deficiency

Preferred Label : Hereditary Factor XI Deficiency;

NCIt synonyms : Hemophilia C;

NCIt related terms : Hereditary Factor XI Deficiency Disease;

NCIt definition : A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. It may be asymptomatic or manifest with bleeding.;

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

Codes from synonyms : D68.1;

Details

Origin ID

C84705;

UMLS CUI

C0015523;

Currated CISMeF NLP mapping
- Congenital factor XI deficiency [ICD-9 code]
- Congenital factor XI deficiency [ORDO Disease]
- Factor XI deficiency [MedDRA Preferred Term]
- Factor XI deficiency [OMIM Phenotype]
- Haemophilia C [ICD-11 Category]
- Haemophilia C (Factor XI) [MedDRA LLT]
- Hemophilia C (Factor XI) [MedDRA LLT]
- Hereditary factor XI deficiency [ICD-10 Sub-category]
- Hereditary factor XI deficiency [ICD-10 Sub-category (who)]
- Hereditary factor XI deficiency disease (disorder) [SNOMED CT concept]
- Reduced factor XI activity [HPO term]
- blood clotting factor xi deficiency [Disease (Nov.)]
- factor XI deficiency [MeSH concept]
- factor xi deficiency [MeSH Descriptor]
- hereditary factor xi deficiency disease [SNOMED Notion]
DO Cross reference
- factor XI deficiency [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital factor XI deficiency [MedDRA LLT]
- Congenital factor XI deficiency [ICD-9 code]
- Congenital factor XI deficiency [ORDO Disease]
- Factor XI deficiency [OMIM Phenotype]
- Factor XI deficiency [MedDRA Preferred Term]
- Haemophilia C (Factor XI) [MedDRA LLT]
- Hemophilia C (Factor XI) [MedDRA LLT]
- Hereditary factor XI deficiency [ICD-10 Sub-category]
- Hereditary factor XI deficiency [ICD-10 Sub-category (who)]
- Hereditary factor XI deficiency disease (disorder) [SNOMED CT concept]
- Reduced factor XI activity [HPO term]
- blood clotting factor xi deficiency [Disease (Nov.)]
- factor XI deficiency [DO Concept]
- factor XI deficiency [MeSH concept]
- factor xi deficiency [MeSH Descriptor]
- hereditary factor xi deficiency disease [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
- mCode Elixhauser Coagulation Deficiency Value Set [NCIt concept]
- mCode 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
- F11 Gene [NCIt concept]

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