Rubinstein-Taybi syndrome

Preferred Label : Rubinstein-Taybi syndrome;

ICD-11 definition : Rubinstein-Taybi syndrome is a developmental anomalies syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), intellectual deficit and behavioural troubles.;

ICD-11 synonym : Broad thumb syndrome; RSTS - [Rubinstein-Taybi syndrome]; Broad thumb-hallux syndrome;

ICD-11 acronym : RSTS;

Détails

Origin ID

692585833;

Automatic exact mappings (from CISMeF team)
- CREB binding protein [ORDO Gene]
- CREBBP wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category]
- RUBENSTEIN-TAYBI SYNDROME [WHO-ART Included Term]
- Rubinstein-Taybi Syndrome [NCIt concept]
- Rubinstein-Taybi dwarfism [PASCAL descriptor]
- Rubinstein-Taybi syndrome [MeSH concept]
- Rubinstein-Taybi syndrome [MedDRA Preferred Term]
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome [PASCAL descriptor]
- Rubinstein-Taybi syndrome [Disease (Nov.)]
- Rubinstein-Taybi syndrome (disorder) [SNOMED CT concept]
- Rubinstein-taybi syndrome [OMIM phenotypic series]
- Rubinstein-taybi syndrome 1 [OMIM Phenotype]
- rubinstein-taybi syndrome [SNOMED Notion]
- rubinstein-taybi syndrome [MeSH Descriptor]

Position du mot-clé dans l'(les) arborescence(s) :

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