Hemophilia - CISMeF

Preferred Label : Hemophilia;

NCIt related terms : Hemophiliac;

NCIt definition : A deficiency or abnormality of a blood coagulation factor characterized by the tendency to hemorrhage. Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (hereditary factor VIII deficiency) hemophilia B or Christmas disease (hereditary factor IX deficiency), and hemophilia C (hereditary factor XI deficiency). Factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in acquired hemophilia known as acquired factor VIII deficiency. Approximately 10% of patients with acquired hemophilia have an underlying malignancy.;

Alternative definition : NCI-GLOSS: Group of hereditary disorders in which affected individuals fail to make enough of certain proteins needed to form blood clots.; NICHD: A coagulation disorder characterized by the partial or complete absence of factor VIII or IX activity in the blood.;

Codes from synonyms : CDR0000044132;

Details

Origin ID

C3093;

UMLS CUI

C0684275;

Automatic exact mappings (from CISMeF team)
- Haemophilia C [ICD-11 Category]
- Hemi-neglect (finding) [SNOMED CT concept]
- Hemophilia [ACR pathology]
- Hemophilia [ACR pathology]
- Hemophilia [ACR pathology]
- Hemophilia [ACR pathology]
- Hemophilia [LOINC component]
- Hemophilia - specialty (qualifier value) [SNOMED CT concept]
- coagulation factor VIII [ORDO Gene]
- coagulation factor VIII [HGNC gene]
- factor VIII deficiency [DO Concept]
- factor xi deficiency [MeSH Descriptor]
- purpura - coagulation defect [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Factor VIII deficiency [OMIM Phenotype]
- Haemophilia [HPMULTI term]
- Haemophilia [MedDRA Preferred Term]
- Haemophilia A [ICD-11 Subcategory]
- Haemophilia A [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 B [PASCAL descriptor]
- Hemophilia a [OMIM Phenotype]
- Hemophilia b [OMIM Phenotype]
- Hereditary factor VIII deficiency [ICD-10 category]
- Hereditary factor VIII deficiency disease (disorder) [SNOMED CT concept]
- haemophilia [Blood Transfusion thesaurus concept]
- hemophilia [Disease (Nov.)]
- 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]
- hemophilia, nos [SNOMED Notion]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Haemophilia [MedDRA Preferred Term]
- Haemophilia NOS [MedDRA LLT]
- Hemophilia [ORDO Disease]
- Hemophilia [LOINC component]
- Hemophilia [MedDRA LLT]
- Hemophilia (disorder) [SNOMED CT concept]
- hemophilia [MedlinePlus Topic]
- hemophilia [Disease (Nov.)]
- hemophilia, nos [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [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]
may_be_associated_disease_of_disease
- Hemophilic Arthritis [NCIt concept]

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