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Version: 17.08d (Release date: 2017-08-28)
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Rubinstein-Taybi Syndrome (Code C75466)

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Terms & Properties

Preferred Name: Rubinstein-Taybi Syndrome

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.

Label: Rubinstein-Taybi Syndrome

NCI Thesaurus Code: C75466 (Search for linked caDSR metadata)  (search value sets)

NCI Metathesaurus Link: C0035934  (see NCI Metathesaurus info)

Synonyms & Abbreviations: (see Synonym Details)
Rubinstein-Taybi Syndrome

External Source Codes: 
UMLS CUI C0035934

Other Properties:
     Name Value (qualifiers indented underneath)
code C75466
Contributing_Source NICHD
Legacy_Concept_Name Rubinstein_Taybi_Syndrome
NICHD_Hierarchy_Term Rubinstein-Taybi Syndrome
Semantic_Type Disease or Syndrome

Additional Concept Data: 
Defined Fully by Roles: Yes  


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