Treacher-Collins syndrome

Preferred Label : Treacher-Collins syndrome;

ICD-11 definition : Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, associated with several head and neck defects.;

ICD-11 synonym : Franceschetti-Klein syndrome;

Details

Origin ID

969026676;

Automatic exact mappings (from CISMeF team)
- craniofacial abnormalities [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Franceschetti-Klein syndrome (disorder) [SNOMED CT concept]
- Mandibulofacial dysostosis [MedDRA Preferred Term]
- Treacher Collins Syndrome [NCIt concept]
- Treacher Collins syndrome (disorder) [SNOMED CT concept]
- Treacher collins syndrome 1 [OMIM Phenotype]
- Treacher-Collins syndrome [ORDO Disease]
- Treacher-Collins' syndrome [MedDRA LLT]
- franceschetti-klein syndrome [SNOMED Notion]
- mandibulofacial dysostosis [MeSH concept]
- mandibulofacial dysostosis [MeSH Descriptor]
- treacher collins syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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