Hemophilia B - CISMeF

Preferred Label : Hemophilia B;

NCIt related terms : Hereditary Factor IX Deficiency Disease; Hereditary factor IX deficiency; Christmas Disease; Factor IX Deficiency;

NCIt definition : An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.;

Alternative definition : NICHD: An X-linked recessive deficiency of coagulation factor IX characterized by a tendency to bleed. Hemophilia B occurs in approximately 1 in 20,000 live male births.;

Codes from synonyms : D67;

Détails

Origin ID

C26721;

UMLS CUI

C0008533;

Automatic exact mappings (from CISMeF team)
- Factor IX deficiency (disorder) [SNOMED CT concept]
- coagulation factor IX [ORDO Gene]
- coagulation factor IX [HGNC gene]
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 B [ICD-11 Subcategory]
- Haemophilia B [MedDRA LLT]
- Haemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia B [PASCAL descriptor]
- Hemophilia B [MedDRA LLT]
- Hemophilia B [ORDO Disease]
- Hemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia b [OMIM Phenotype]
- Hereditary factor IX deficiency [ICD-10 category (who)]
- Hereditary factor IX deficiency [ICD-10 category]
- 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 B [MeSH Descriptor]
- hemophilia B [MeSH concept]
- hemophilia b, nos [SNOMED Notion]
DO Cross reference
- hemophilia B [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
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 (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 [MeSH concept]
- hemophilia B [MeSH Descriptor]
- hemophilia b, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Hereditary factor IX deficiency [ICD-11 Category]
associated_with_malfunction_of_gene_product
- Coagulation Factor IX [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease 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
- F9 Gene [NCIt concept]
- F9 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
- F9 Gene [NCIt concept]

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