Adenosine Deaminase 2 Deficiency

Preferred Label : Adenosine Deaminase 2 Deficiency;

NCIt synonyms : DADA2; VAIHS;

NCIt related terms : Adenosine deaminase 2 deficiency/DAD2;

NCIt definition : A disorder characterized by abnormal inflammation of various tissues, particularly the blood vessels, with intermittent. fevers, areas of net-like, mottled skin discoloration (livedo racemosa), hepatosplenomegaly, and recurrent strokes.;

NCI Metathesaurus CUI : CL504909;

Détails

Origin ID

C126347;

UMLS CUI

C4289994;

Automatic exact mappings (from CISMeF team)
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome [OMIM Phenotype]
Currated CISMeF NLP mapping
- Adenosine deaminase 2 deficiency (disorder) [SNOMED CT concept]
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)
- Adenosine deaminase 2 deficiency [MedDRA Preferred Term]
- Adenosine deaminase 2 deficiency (disorder) [SNOMED CT concept]
- deficiency of adenosine deaminase 2 [MeSH Supplementary Concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Artery [NCIt concept]
- Cardiovascular System [NCIt concept]
- Vascular System [NCIt concept]
disease_mapped_to_gene
- ADA2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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