Antithrombin III Deficiency

Preferred Label : Antithrombin III Deficiency;

NCIt definition : A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism.;

Details

Origin ID

C98815;

UMLS CUI

C0272375;

CISMeF manual mappings
- antithrombin iii deficiency [MeSH Descriptor]
Currated CISMeF NLP mapping
- Antithrombin III decreased [MedDRA Preferred Term]
- Antithrombin III deficiency [MedDRA Preferred Term]
- Antithrombin III deficiency [OMIM Phenotype]
- Antithrombin III deficiency [PASCAL descriptor]
- Antithrombin III deficiency (disorder) [SNOMED CT concept]
- Reduced antithrombin III activity [HPO term]
- antithrombin III deficiency [MeSH concept]
- antithrombin III deficiency [DO Concept]
- antithrombin III deficiency [Disease (Nov.)]
- antithrombin iii deficiency [SNOMED Notion]
- antithrombin iii deficiency [TUV Concept]
DO Cross reference
- antithrombin III 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)
- Antithrombin III deficiency [MedDRA Preferred Term]
- Antithrombin III deficiency [OMIM Phenotype]
- Antithrombin III deficiency [PASCAL descriptor]
- Antithrombin III deficiency (disorder) [SNOMED CT concept]
- Antithrombin deficiency [MedDRA LLT]
- Hereditary thrombophilia due to congenital antithrombin deficiency [ORDO Disease]
- Reduced antithrombin III activity [HPO term]
- antithrombin III deficiency [MeSH concept]
- antithrombin III deficiency [DO Concept]
- antithrombin III deficiency [Disease (Nov.)]
- antithrombin iii deficiency [SNOMED Notion]
- antithrombin iii deficiency [MeSH Descriptor]
- antithrombin iii deficiency [TUV Concept]
concept_is_in_subset
- 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]
disease_has_finding
- Rare Lesion [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]
related_to_genetic_biomarker
- SERPINC1 Gene [NCIt concept]

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