Hereditary Factor I Deficiency

Preferred Label : Hereditary Factor I Deficiency;

NCIt definition : An inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding.;

Alternative definition : NICHD: An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood.;

Details

Origin ID

C98937;

UMLS CUI

C0019250;

Automatic exact mappings (from CISMeF team)
- Hereditary deficiency of factor I [ICD-11 Subcategory]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital fibrinogen deficiency [ORDO Disease]
- Hereditary factor I deficiency disease (disorder) [SNOMED CT concept]
- congenital afibrinogenemia [MeSH concept]
- hereditary factor i deficiency disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- congenital afibrinogenemia [MeSH concept]
concept_is_in_subset
- 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]

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