hemophilia B - CISMeF

Preferred Label : hemophilia B;

MeSH definition : A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008);

MeSH synonym : christmas disease; factor ix deficiencies; deficiency, factor ix; disease, christmas; hemophilia bs; deficiencies, factor ix; bs, hemophilia; haemophilia b; haemophilia bs; factor ix deficiency; F9 deficiency; deficiencies, F9; deficiency, F9; F9 deficiencies; hemophilia B(M); hemophilia bs (M); plasma thromboplastin component deficiency;

CISMeF synonym : b, haemophilia; bs, haemophilia; b, hemophilia; hemophilia B leyden;

Wikipedia link : https://en.wikipedia.org/wiki/Christmas disease;

Details

Origin ID

D002836;

UMLS CUI

C0008533;

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]
Currated CISMeF NLP mapping
- Christmas disease (Factor IX) [MedDRA LLT]
- Congenital factor IX disorder [ICD-9 code]
- Congenital factor IX disorder [MedDRA LLT]
- Factor IX deficiency [MedDRA Preferred Term]
- Haemophilia [MedDRA Preferred Term]
- Haemophilia A [MedDRA LLT]
- Haemophilia B [ICD-11 Subcategory]
- Haemophilia B [MedDRA LLT]
- Haemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia [ORDO Disease]
- Hemophilia [MedDRA LLT]
- Hemophilia (disorder) [SNOMED CT concept]
- Hemophilia B [PASCAL descriptor]
- Hemophilia B [MedDRA LLT]
- Hemophilia B [NCIt concept]
- Hemophilia B [ORDO Disease]
- Hemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia b [OMIM Phenotype]
- Hereditary factor IX deficiency [ICD-11 Category]
- Hereditary factor IX deficiency [ICD-10 category]
- Hereditary factor IX deficiency [ICD-10 category (who)]
- Hereditary factor IX deficiency disease (disorder) [SNOMED CT concept]
- hemophilia [MedlinePlus Topic]
- hemophilia B [DO Concept]
- hemophilia B [Disease (Nov.)]
- hemophilia B [Blood Transfusion thesaurus concept]
- hemophilia a, nos [SNOMED Notion]
- hemophilia b, nos [SNOMED Notion]
- hemophilia, nos [SNOMED Notion]
DO Cross reference
- hemophilia B [DO Concept]
Indexing information
- factor IX Seattle(2) [MeSH Supplementary Concept]
- factor IX chapel hill [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Bleeding disorder in hemophilia B carriers [ORDO Disease]
- Mild hemophilia B [ORDO Disease]
- Moderate hemophilia B [ORDO Disease]
- Severe hemophilia B [ORDO Disease]
MeSH Descriptor(s) used for indexing
- factor IX [MeSH Descriptor]
- factor ixa [MeSH Descriptor]
ORDO relation(s)
- Hemophilia B [ORDO Disease]
Record concept(s)
- Hemophilia B Leyden [MeSH concept]
- hemophilia B [MeSH concept]
See also
- hemophilia A [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Christmas disease (Factor IX) [MedDRA LLT]
- Congenital factor IX disorder [ICD-9 code]
- Congenital factor IX disorder [MedDRA LLT]
- Factor IX deficiency [MedDRA Preferred Term]
- Factor IX deficiency (disorder) [SNOMED CT concept]
- Haemophilia B [ICD-11 Subcategory]
- Haemophilia B [MedDRA LLT]
- Haemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia B [ORDO Disease]
- Hemophilia B [PASCAL descriptor]
- Hemophilia B [MedDRA LLT]
- Hemophilia B [NCIt concept]
- Hemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia b [OMIM Phenotype]
- Hereditary factor IX deficiency [ICD-10 category]
- Hereditary factor IX deficiency [ICD-11 Category]
- Hereditary factor IX deficiency disease (disorder) [SNOMED CT concept]
- hemophilia B [DO Concept]
- hemophilia B [Disease (Nov.)]
- hemophilia b, nos [SNOMED Notion]

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