Hemophilia A - CISMeF

Preferred Label : Hemophilia A;

NCIt related terms : Hereditary Factor VIII Deficiency Disease; Factor VIII Deficiency; Hereditary factor VIII deficiency;

NCIt definition : An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an X-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births.;

Alternative definition : NICHD: An X-linked recessive deficiency of coagulation factor VIII characterized by a tendency to bleed. Hemophilia A, the most common type of hemophilia, occurs in approximately 1 in 4,000 to 1 in 5,000 live male births.;

Codes from synonyms : D66;

Details

Origin ID

C27146;

UMLS CUI

C0019069;

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]
- coagulation factor VIII [ORDO Gene]
- coagulation factor VIII [HGNC gene]
- factor VIII deficiency [DO Concept]
Currated CISMeF NLP mapping
- Factor VIII deficiency [MedDRA Preferred Term]
- Factor VIII deficiency [OMIM Phenotype]
- Haemophilia [MedDRA Preferred Term]
- Haemophilia A [ICD-11 Subcategory]
- Haemophilia A [MedDRA LLT]
- Haemophilia A (Factor VIII) [MedDRA LLT]
- Haemophilia NOS [MedDRA LLT]
- Hemophilia [PASCAL descriptor]
- Hemophilia [ORDO Disease]
- Hemophilia [MedDRA LLT]
- Hemophilia (disorder) [SNOMED CT concept]
- Hemophilia A [PASCAL descriptor]
- Hemophilia A [ORDO Disease]
- Hemophilia A [MedDRA LLT]
- 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]
- Reduced factor VIII activity [HPO term]
- factor VIII deficiency [MeSH concept]
- hemophilia [MedlinePlus Topic]
- hemophilia A [Disease (Nov.)]
- hemophilia A [Blood Transfusion thesaurus concept]
- hemophilia A [MeSH Descriptor]
- hemophilia A [MeSH concept]
- hemophilia a, nos [SNOMED Notion]
DO Cross reference
- factor VIII deficiency [DO Concept]
False automatic mappings
- Factor VIII deficiency (disorder) [SNOMED CT 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 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 (Factor VIII) [MedDRA LLT]
- Hemophilia a [OMIM Phenotype]
- Hereditary factor VIII deficiency [ICD-10 category]
- Hereditary factor VIII deficiency [ICD-11 Category]
- Hereditary factor VIII deficiency [ICD-10 category (who)]
- Hereditary factor VIII deficiency disease (disorder) [SNOMED CT concept]
- factor VIII deficiency [DO Concept]
- hemophilia A [MeSH Descriptor]
- hemophilia A [MeSH concept]
- hemophilia a, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- hemophilia [Disease (Nov.)]
associated_with_malfunction_of_gene_product
- Coagulation Factor VIII [NCIt concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- 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_associated_gene
- F8 Gene [NCIt concept]
- F8 wt Allele [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
- F8 Gene [NCIt concept]

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