Protein S Deficiency Disease

Preferred Label : Protein S Deficiency Disease;

NCIt synonyms : Protein S Deficiency;

NCIt definition : A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism.;

Alternative definition : NICHD: A thrombophilia disorder characterized by deficiency of protein S; it results in venous thromboembolism.;

Details

Origin ID

C99026;

UMLS CUI

C0242666;

Automatic exact mappings (from CISMeF team)
- Primary thrombophilia [ICD-10 Sub-category]
- protein S deficiency [DO Concept]
Currated CISMeF NLP mapping
- Protein S deficiency [MedDRA Preferred Term]
- Protein S deficiency disease (disorder) [SNOMED CT concept]
- Reduced protein S activity [HPO term]
- protein S deficiency [MeSH concept]
- protein s deficiency [MeSH Descriptor]
- protein s deficiency disease [SNOMED Notion]
DO Cross reference
- protein S 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)
- Protein S deficiency [MedDRA Preferred Term]
- Protein S deficiency disease (disorder) [SNOMED CT concept]
- protein S deficiency [MeSH concept]
- protein S deficiency [DO Concept]
- protein s deficiency [MeSH Descriptor]
- protein s deficiency disease [SNOMED Notion]
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_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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