Toriello-Carey syndrome

Preferred Label : Toriello-Carey syndrome;

ICD-11 definition : Toriello Carey syndrome is chharacterized by agenesis of corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Pierre Robin sequence (including a cleft palate), abnormally shaped ears, redundant neck skin, laryngeal anomalies, cardiac defects, short hands, and hypotonia.;

Détails

Origin ID

147297969;

Currated CISMeF NLP mapping
- Corpus callosum, agenesis of, with facial anomalies and robin sequence [OMIM Phenotype]
- Toriello Carey syndrome (disorder) [SNOMED CT concept]
- Toriello-Carey syndrome [ORDO Disease]
- corpus callosum, agenesis of, with facial anomalies and robin sequence [MeSH Supplementary Concept]
- corpus callosum, agenesis of, with facial anomalies and robin sequence [MeSH concept]

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