rubinstein-taybi syndrome - CISMeF

CISMeF

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Rubinstein-taybi syndromeSNOMED Notion

Preferred Label : rubinstein-taybi syndrome;

Détails

Origin ID

D4-00201;

UMLS CUI

C0035934;

Automatic exact mappings (from CISMeF team)
- rubinstein taybi like syndrome [MeSH Supplementary 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 [PASCAL descriptor]
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome [Disease (Nov.)]
- Rubinstein-Taybi syndrome [ICD-11 More detail]
- Rubinstein-Taybi syndrome [MeSH concept]
- 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 [MeSH Descriptor]
ICD-10 exact mapping(s)
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category (who)]
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]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Rubinstein-Taybi syndrome (disorder) [SNOMED CT 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 [NCIt concept]
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome [MedDRA Preferred Term]
- Rubinstein-Taybi syndrome [MeSH concept]
- Rubinstein-Taybi syndrome [Disease (Nov.)]
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome (disorder) [SNOMED CT concept]
- Rubinstein-taybi syndrome 1 [OMIM Phenotype]
- rubinstein-taybi syndrome [MeSH Descriptor]

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28/07/2025

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