Bannayan-Riley-Ruvalcaba Syndrome

Preferred Label : Bannayan-Riley-Ruvalcaba Syndrome;

NCIt synonyms : Macrocephaly with Multiple Lipomas and Hemangiomas; Bannayan Syndrome; Bannayan-Zonana Syndrome;

NCIt definition : A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas.;

Details

Origin ID

C3939;

UMLS CUI

C0265326;

Currated CISMeF NLP mapping
- Bannayan syndrome (disorder) [SNOMED CT concept]
- Bannayan-Riley-Ruvalcaba Syndrome [MeSH concept]
- Bannayan-Riley-Ruvalcaba syndrome [PASCAL descriptor]
- Bannayan-Riley-Ruvalcaba syndrome [DO Concept]
- Bannayan-Riley-Ruvalcaba syndrome [ICD-11 More detail]
- Bannayan-Riley-Ruvalcaba syndrome [MedDRA Preferred Term]
- Bannayan-Riley-Ruvalcaba syndrome [ORDO Disease]
- Bannayan-riley-ruvalcaba syndrome [OMIM Phenotype]
- Cowden syndrome 1 [OMIM Phenotype]
- Ruvalcaba Myhre Smith syndrome [Disease (Nov.)]
- Ruvalcaba-Myhre syndrome (disorder) [SNOMED CT concept]
- ruvalcaba-myhre syndrome [SNOMED Notion]
DO Cross reference
- Bannayan-Riley-Ruvalcaba syndrome [DO Concept]
Disease may have findings
- Seizure [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bannayan syndrome (disorder) [SNOMED CT concept]
- Bannayan-Riley-Ruvalcaba Syndrome [MeSH concept]
- Bannayan-Riley-Ruvalcaba syndrome [ORDO Disease]
- Bannayan-Riley-Ruvalcaba syndrome [PASCAL descriptor]
- Bannayan-Riley-Ruvalcaba syndrome [DO Concept]
- Bannayan-Riley-Ruvalcaba syndrome [MedDRA Preferred Term]
- Bannayan-riley-ruvalcaba syndrome [OMIM Phenotype]
- Riley-Smith syndrome (disorder) [SNOMED CT concept]
- Ruvalcaba Myhre Smith syndrome [Disease (Nov.)]
- Ruvalcaba-Myhre syndrome (disorder) [SNOMED CT concept]
- riley-smith syndrome [SNOMED Notion]
- ruvalcaba-myhre syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_disease
- Hamartoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- PTEN Gene Mutation [NCIt concept]
disease_mapped_to_gene
- PTEN Gene [NCIt concept]
disease_may_have_associated_disease
- Breast Carcinoma [NCIt concept]
- Differentiated Thyroid Gland Carcinoma [NCIt concept]
- Endometrial Carcinoma [NCIt concept]
- Macrocephaly [NCIt concept]
- Polyposis [NCIt concept]
- Vascular Disorder [NCIt concept]

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