Factor XI deficiency

Preferred Label : Factor XI deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rosenthal syndrome; Plasma thromboplastin antecedent deficiency; F11 deficiency; Pta deficiency;

Description : Factor XI deficiency is an autosomal bleeding disorder characterized by reduced levels of factor XI in plasma (less than 15 IU/dL). Bleeding occurs mainly after trauma or surgery. On the basis of the concordance or discordance of F11 antigen and activity, the disorder is classified into the more frequent cross-reactive negative (CRM-) and the rarer CRM positive (CRM ) (summary by Duga and Salomon, 2009).;

Prefixed ID : #612416;

Details

Origin ID

612416;

UMLS CUI

C0015523;

Automatic exact mappings (from CISMeF team)
- Factor XI deficiency (disorder) [SNOMED CT concept]
- factor XI deficiency [DO Concept]
Currated CISMeF NLP mapping
- Congenital factor XI deficiency [ICD-9 code]
- Congenital factor XI deficiency [ORDO Disease]
- Factor XI Deficiency [NCIt concept]
- Factor XI deficiency [MedDRA Preferred Term]
- Haemophilia C [ICD-11 Category]
- Haemophilia C (Factor XI) [MedDRA LLT]
- Hemophilia C (Factor XI) [MedDRA LLT]
- Hereditary Factor XI Deficiency [NCIt concept]
- 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 [Blood Transfusion thesaurus concept]
- factor xi deficiency [MeSH Descriptor]
- hereditary factor xi deficiency disease [SNOMED Notion]
DO Cross reference
- factor XI deficiency [DO Concept]
Genes related to phenotype
- Coagulation factor XI [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Reduced factor XI activity [HPO term]
ORDO concept(s)
- Congenital factor XI deficiency [ORDO Disease]
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 [MedDRA Preferred Term]
- Haemophilia C (Factor XI) [MedDRA LLT]
- Hemophilia C (Factor XI) [MedDRA LLT]
- Hereditary Factor XI Deficiency [NCIt concept]
- Hereditary factor XI deficiency [ICD-10 Sub-category (who)]
- Hereditary factor XI deficiency [ICD-10 Sub-category]
- 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 [DO Concept]
- factor xi deficiency [MeSH Descriptor]
- hereditary factor xi deficiency disease [SNOMED Notion]

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