rubinstein-taybi syndrome

Preferred Label : rubinstein-taybi syndrome;

MeSH definition : A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).;

MeSH synonym : syndrome, rubinstein-taybi; broad thumb-hallux syndrome; broad thumb hallux syndrome; broad thumb-hallux syndromes; syndrome, broad thumb-hallux; syndromes, broad thumb-hallux; rubinstein syndrome; syndrome, rubinstein; broad thumbs and great toes, characteristic facies, and mental retardation; rubinstein taybi syndrome;

CISMeF synonym : Rubinstein-Taybi; rubinstein-taybi's syndrome;

Details

Origin ID

D012415;

UMLS CUI

C0035934;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- CREBBP wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category (who)]
- RUBENSTEIN-TAYBI SYNDROME [WHO-ART Included Term]
- Rubinstein-Taybi Syndrome [NCIt concept]
- Rubinstein-Taybi dwarfism [PASCAL descriptor]
- Rubinstein-Taybi syndrome [Disease (Nov.)]
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome [PASCAL descriptor]
- Rubinstein-Taybi syndrome [ICD-11 More detail]
- Rubinstein-Taybi syndrome [MedDRA Preferred Term]
- 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 [SNOMED Notion]
DO Cross reference
- Rubinstein-Taybi syndrome [DO Concept]
False UMLS correspondences (reviewed by CISMeF team)
- MALFORMATIONS MULTIPLE [WHO-ART Preferred Term]
Manual NTBT mappings (CISMeF)
- Genetic malformation syndrome with short stature [ORDO Disease]
- Lens shape anomaly [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Rubinstein-Taybi syndrome [ORDO Disease]
Record concept(s)
- Rubinstein-Taybi syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- chromosome 16p13.3 deletion syndrome [MeSH Supplementary Concept]
- rubinstein taybi like syndrome [MeSH Supplementary Concept]
See also
- intellectual disability [MeSH Descriptor]
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 [NCIt concept]
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome [MedDRA Preferred Term]
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome [Disease (Nov.)]
- Rubinstein-Taybi syndrome (disorder) [SNOMED CT concept]
- Rubinstein-taybi syndrome 1 [OMIM Phenotype]
- rubinstein-taybi syndrome [SNOMED Notion]

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