Hereditary Factor XIII Deficiency

Preferred Label : Hereditary Factor XIII Deficiency;

NCIt synonyms : Hereditary Fibrin Stabilizing Factor Deficiency;

NCIt definition : A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor XIII, resulting in bleeding.;

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

Details

Origin ID

C98941;

UMLS CUI

C0015530;

Automatic exact mappings (from CISMeF team)
- Hereditary factor XIII deficiency [ICD-11 More detail]
DO Cross reference
- factor XIII deficiency [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)
- Congenital factor XIII deficiency [ORDO Disease]
- Factor XIII deficiency [MedDRA Preferred Term]
- Hereditary factor XIII deficiency disease (disorder) [SNOMED CT concept]
- factor XIII deficiency [MeSH concept]
- factor XIII deficiency [DO Concept]
- factor xiii deficiency [MeSH Descriptor]
- factor xiii deficiency disease, nos [SNOMED Notion]
- hereditary factor xiii deficiency disease [SNOMED Notion]
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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