Rubinstein-Taybi Syndrome

Preferred Label : Rubinstein-Taybi Syndrome;

NCIt synonyms : Rubinstein Taybi Syndrome;

NCIt definition : A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders.;

Details

Origin ID

C75466;

UMLS CUI

C0035934;

Currated CISMeF NLP mapping
- RUBENSTEIN-TAYBI SYNDROME [WHO-ART Included Term]
- Rubinstein-Taybi dwarfism [PASCAL descriptor]
- Rubinstein-Taybi syndrome [PASCAL descriptor]
- Rubinstein-Taybi syndrome [Disease (Nov.)]
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome [ICD-11 More detail]
- Rubinstein-Taybi syndrome [MedDRA Preferred Term]
- Rubinstein-Taybi syndrome [MeSH concept]
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome (disorder) [SNOMED CT concept]
- Rubinstein-taybi syndrome [OMIM phenotypic series]
- Rubinstein-taybi syndrome 1 [OMIM Phenotype]
- rubinstein-taybi syndrome [MeSH Descriptor]
- rubinstein-taybi syndrome [SNOMED Notion]
DO Cross reference
- Rubinstein-Taybi syndrome [DO Concept]
See also inter- (CISMeF)
- Rubinstein Taybi like syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category (who)]
- RUBENSTEIN-TAYBI SYNDROME [WHO-ART Included Term]
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome [Disease (Nov.)]
- Rubinstein-Taybi syndrome [MedDRA Preferred Term]
- Rubinstein-Taybi syndrome [MeSH concept]
- Rubinstein-Taybi syndrome (disorder) [SNOMED CT concept]
- Rubinstein-taybi syndrome 1 [OMIM Phenotype]
- rubinstein-taybi syndrome [MeSH Descriptor]
- rubinstein-taybi syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category (who)]
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
pathogenesis_of_disease_involves_gene
- CREBBP Gene [NCIt concept]
- CREBBP wt Allele [NCIt concept]
related_to_genetic_biomarker
- CREBBP Gene [NCIt concept]
- EP300 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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