Blue Rubber Bleb Nevus Syndrome

Preferred Label : Blue Rubber Bleb Nevus Syndrome;

NCIt synonyms : Bean Syndrome; BRBNS; Blue Rubber Bleb Nevus;

NCIt definition : A rare congenital disorder that is caused by somatic TEK gene mutations and presents with multifocal venous malformations (blebs) on the skin, gastrointestinal tract, and soft tissues. Patients develop anemia due to chronic gastrointestinal bleeding that requires lifelong treatment with iron and blood transfusions.;

Détails

Origin ID

C4486;

UMLS CUI

C0346072;

Currated CISMeF NLP mapping
- Blue rubber bleb naevus syndrome [ICD-11 More detail]
- Blue rubber bleb nevus [OMIM Phenotype]
- Blue rubber bleb nevus [ORDO Disease]
- Blue rubber bleb nevus (disorder) [SNOMED CT concept]
- Blue rubber bleb nevus syndrome [MeSH concept]
- blue rubber bleb nevus syndrome [Disease (Nov.)]
- blue rubber bleb nevus syndrome [MeSH Supplementary Concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Vascular System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Blue rubber bleb nevus [ORDO Disease]
- Blue rubber bleb nevus [OMIM Phenotype]
- Blue rubber bleb nevus (disorder) [SNOMED CT concept]
- Blue rubber bleb nevus syndrome [MeSH concept]
- blue rubber bleb nevus syndrome [MeSH Supplementary Concept]
- blue rubber bleb nevus syndrome [Disease (Nov.)]
disease_excludes_finding
- Diffuse Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_associated_disease
- Congenital Hemangioma [NCIt concept]
disease_has_finding
- Benign Cellular Infiltrate [NCIt concept]
- Congenital Lesion [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Multifocal Lesion [NCIt concept]
- Rubbery Skin Lesion [NCIt concept]
- Vascular Channel Formation [NCIt concept]
disease_has_molecular_abnormality
- TEK Gene Mutation [NCIt concept]
disease_has_primary_anatomic_site
- Blood Vessel [NCIt concept]
- Vascular System [NCIt concept]
disease_mapped_to_gene
- TEK Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- TEK Gene [NCIt concept]
- TEK wt Allele [NCIt concept]

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

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