hemophilia A - CISMeF

Preferred Label : hemophilia A;

MeSH definition : The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.;

MeSH synonym : hemophilia as; haemophilia; Hemophilia A, Congenital; Congenital Hemophilia A; Congenital Hemophilia As; Hemophilia As, Congenital; Classic Hemophilia; Classic Hemophilias; Hemophilias, Classic; Hemophilia, Classic; hemophilia;

CISMeF synonym : a, hemophilia; as, hemophilia; deficiencies, factor viii; factor viii deficiencies;

MeSH hyponym : autosomal hemophilia A; As, Autosomal Hemophilia; Autosomal Hemophilia As; Hemophilia A, Autosomal; Hemophilia As, Autosomal;

Related MeSH term : factor VIII deficiency; Factor 8 Deficiency, Congenital; Factor VIII Deficiency, Congenital; Deficiency, Factor VIII;

Details

Origin ID

D006467;

UMLS CUI

C0019069;

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)
- Hemophilia [LOINC component]
- Hemophilia [ACR pathology]
- Hemophilia [ACR pathology]
- Hemophilia [ACR pathology]
- Hemophilia [ACR pathology]
- Hemophilia - specialty (qualifier value) [SNOMED CT concept]
- autosomal hemophilia A [DO Concept]
- coagulation factor VIII [ORDO Gene]
- coagulation factor VIII [HGNC gene]
- factor VIII deficiency [DO Concept]
- haemophilia [EMDN type]
- haemophilia [medical devices type]
Currated CISMeF NLP mapping
- Factor VII deficiency [MedDRA Preferred Term]
- Factor VIII deficiency [OMIM Phenotype]
- Factor VIII deficiency [MedDRA Preferred Term]
- Factor VIII deficiency (disorder) [SNOMED CT concept]
- Haemophilia [HPMULTI term]
- Haemophilia [MedDRA Preferred Term]
- Haemophilia A [ICD-11 Subcategory]
- Haemophilia A [MedDRA LLT]
- Haemophilia NOS [MedDRA LLT]
- Hemophilia [PASCAL descriptor]
- Hemophilia [NCIt concept]
- Hemophilia [ORDO Disease]
- Hemophilia [MedDRA LLT]
- Hemophilia (disorder) [SNOMED CT concept]
- Hemophilia A [PASCAL descriptor]
- Hemophilia A [NCIt concept]
- Hemophilia A [ORDO Disease]
- Hemophilia A [MedDRA LLT]
- Hemophilia A (Factor VIII) [MedDRA LLT]
- Hemophilia B [PASCAL descriptor]
- Hemophilia a [OMIM Phenotype]
- Hemophilia b [OMIM Phenotype]
- Hereditary factor VIII deficiency [ICD-10 category]
- Hereditary factor VIII deficiency [ICD-10 category (who)]
- Hereditary factor VIII deficiency disease (disorder) [SNOMED CT concept]
- Reduced factor VII activity [HPO term]
- Reduced factor VIII activity [HPO term]
- haemophilia [Blood Transfusion thesaurus concept]
- hemophilia [MedlinePlus Topic]
- hemophilia A [Disease (Nov.)]
- hemophilia A [Blood Transfusion thesaurus concept]
- hemophilia a, nos [SNOMED Notion]
- hemophilia b, nos [SNOMED Notion]
- hemophilia, nos [SNOMED Notion]
DO Cross reference
- factor VIII deficiency [DO Concept]
HPO term
- Reduced factor VIII activity [HPO term]
Indexing information
- F8 protein, human [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Bleeding disorder in hemophilia A carriers [ORDO Disease]
- Mild hemophilia A [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Rare hemorrhagic disorder due to a constitutional coagulation factors defect [ORDO Disease]
MeSH Descriptor(s) used for indexing
- factor VIII [MeSH Descriptor]
- factor viiia [MeSH Descriptor]
MedlinePlus topic(s)
- hemophilia [MedlinePlus Topic]
ORDO relation(s)
- Hemophilia A [ORDO Disease]
Record concept(s)
- autosomal hemophilia A [MeSH concept]
- factor VIII deficiency [MeSH concept]
- hemophilia A [MeSH concept]
Related MeSH Supplementary Concept(s)
- factor 8 deficiency, acquired [MeSH Supplementary Concept]
- familial multiple coagulation factor deficiency I [MeSH Supplementary Concept]
- hemophilia A with vascular abnormality [MeSH Supplementary Concept]
See also
- factor VIII [MeSH Descriptor]
- hemarthrosis [MeSH Descriptor]
- hemophilia B [MeSH Descriptor]
See also inter- (CISMeF)
- blood clotting factor vii deficiency [Disease (Nov.)]
- congenital hemophilia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital factor VIII disorder [MedDRA LLT]
- Congenital factor VIII disorder [ICD-9 code]
- Haemophilia A [MedDRA LLT]
- Haemophilia A (Factor VIII) [MedDRA LLT]
- Hemophilia A [MedDRA LLT]
- Hemophilia A [NCIt concept]
- Hemophilia A (Factor VIII) [MedDRA LLT]
- Hemophilia a [OMIM Phenotype]
- Hereditary factor VIII deficiency [ICD-10 category (who)]
- Hereditary factor VIII deficiency [ICD-10 category]
- Hereditary factor VIII deficiency [ICD-11 Category]
- Hereditary factor VIII deficiency disease (disorder) [SNOMED CT concept]
- factor VIII deficiency [DO Concept]
- hemophilia a, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- hemophilia [Disease (Nov.)]

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