STING-Associated Vasculopathy, Infantile-Onset

Preferred Label : STING-Associated Vasculopathy, Infantile-Onset;

NCIt synonyms : SAVI;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the STING1 gene, encoding stimulator of interferon genes protein. It is characterized by an autoinflammatory vasculopathy resulting in severe skin lesions.;

Details

Origin ID

C177547;

UMLS CUI

C4014722;

Currated CISMeF NLP mapping
- SAVI syndrome [MedDRA LLT]
- STING-associated vasculopathy with onset in infancy [ORDO Disease]
- STING-associated vasculopathy with onset in infancy [DO Concept]
- STING-associated vasculopathy with onset in infancy [MedDRA Preferred Term]
- STING-associated vasculopathy with onset in infancy (disorder) [SNOMED CT concept]
- Sting-associated vasculopathy, infantile-onset [OMIM Phenotype]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Vascular System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SAVI syndrome [MedDRA LLT]
- STING-associated vasculopathy with onset in infancy [MedDRA Preferred Term]
- STING-associated vasculopathy with onset in infancy (disorder) [SNOMED CT concept]
- Sting-associated vasculopathy, infantile-onset [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- STING1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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