factor xi deficiency

Preferred Label : factor xi deficiency;

MeSH definition : A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia.;

MeSH synonym : rosenthal syndromes; syndrome, rosenthal's; deficiencies, factor xi; rosenthal syndrome; syndrome, rosenthal; Plasma Thromboplastin Antecedent Deficiency; rosenthal's syndromes; rosenthals syndrome; deficiency, factor xi; hemophilia c; factor xi deficiencies; rosenthal's syndrome; Deficiency, Factor Eleven; Deficiencies, Factor Eleven; Factor Eleven Deficiencies; Factor 11 Deficiency; Factor Eleven Deficiency; Deficiency, Factor 11; Deficiencies, Factor 11; Factor 11 Deficiencies;

CISMeF synonym : pta deficiency; deficiencies, pta; deficiency, pta; pta deficiencies;

MeSH annotation : a blood coag disord; DF: FACTOR XI DEFIC; a blood coag disord;

Details

Origin ID

D005173;

UMLS CUI

C0015523;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Factor XI deficiency (disorder) [SNOMED CT concept]
- Haemophilia A [MedDRA LLT]
- Hemophilia [PASCAL descriptor]
- Hemophilia [ACR pathology]
- Hemophilia [ACR pathology]
- Hemophilia [ACR pathology]
- Hemophilia [NCIt concept]
- Hemophilia [ACR pathology]
- Hemophilia [ORDO Disease]
- Hemophilia [MedDRA LLT]
- Hemophilia (disorder) [SNOMED CT concept]
- Hemophilia - specialty (qualifier value) [SNOMED CT concept]
- Hemophilia A [PASCAL descriptor]
- Hemophilia B [PASCAL descriptor]
- Hemophilia a [OMIM Phenotype]
- Hemophilia b [OMIM Phenotype]
- factor XI deficiency [DO Concept]
- hemophilia [MedlinePlus Topic]
- hemophilia a, nos [SNOMED Notion]
- hemophilia b, nos [SNOMED Notion]
- hemophilia, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Congenital factor XI deficiency [ICD-9 code]
- Factor XI Deficiency [NCIt concept]
- 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 [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 [Blood Transfusion thesaurus concept]
- hereditary factor xi deficiency disease [SNOMED Notion]
DO Cross reference
- factor XI deficiency [DO Concept]
HPO term
- Reduced factor XI activity [HPO term]
Manual NTBT mappings (CISMeF)
- Rare hemorrhagic disorder due to a constitutional coagulation factors defect [ORDO Disease]
MeSH Descriptor(s) used for indexing
- factor XI [MeSH Descriptor]
Record concept(s)
- factor XI deficiency [MeSH concept]
See also
- factor XI [MeSH Descriptor]
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 [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 [DO Concept]
- hereditary factor xi deficiency disease [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital factor XI deficiency [ORDO Disease]

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