Treacher Collins Syndrome

Preferred Label : Treacher Collins Syndrome;

NCIt synonyms : Mandibulofacial Dysostosis;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures.;

Details

Origin ID

C75018;

UMLS CUI

C0242387;

Automatic exact mappings (from CISMeF team)
- Mandibulofacial dysostosis [ICD-11 More detail]
- Treacher collins syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Mandibulofacial dysostosis [PASCAL descriptor]
- Mandibulofacial dysostosis [ICD-10 Sub-category]
- Mandibulofacial dysostosis [ICD-10 Sub-category (who)]
- Mandibulofacial dysostosis [HPO term]
- Mandibulofacial dysostosis [MedDRA Preferred Term]
- Mandibulofacial dysostosis [ORDO Disease]
- Treacher Collins syndrome [PASCAL descriptor]
- Treacher Collins syndrome [DO Concept]
- Treacher Collins syndrome (disorder) [SNOMED CT concept]
- Treacher collins syndrome 1 [OMIM Phenotype]
- Treacher-Collins syndrome [ICD-11 More detail]
- Treacher-Collins syndrome [ORDO Disease]
- Treacher-Collins' syndrome [MedDRA LLT]
- franceschetti-klein syndrome [SNOMED Notion]
- mandibulofacial dysostosis [Disease (Nov.)]
- mandibulofacial dysostosis [MeSH Descriptor]
- mandibulofacial dysostosis [MeSH concept]
- treacher collins syndrome [SNOMED Notion]
DO Cross reference
- Treacher Collins syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Franceschetti's syndrome [MedDRA LLT]
- Mandibulofacial dysostosis [ORDO Disease]
- Mandibulofacial dysostosis [ICD-10 Sub-category]
- Mandibulofacial dysostosis [HPO term]
- Mandibulofacial dysostosis [PASCAL descriptor]
- Mandibulofacial dysostosis [ICD-10 Sub-category (who)]
- Mandibulofacial dysostosis [MedDRA Preferred Term]
- Treacher Collins syndrome [PASCAL descriptor]
- Treacher Collins syndrome [DO Concept]
- Treacher Collins syndrome (disorder) [SNOMED CT concept]
- Treacher collins syndrome 1 [OMIM Phenotype]
- Treacher-Collins syndrome [ORDO Disease]
- Treacher-Collins' syndrome [MedDRA LLT]
- mandibulofacial dysostosis [Disease (Nov.)]
- mandibulofacial dysostosis [MeSH concept]
- mandibulofacial dysostosis [MeSH Descriptor]
- treacher collins syndrome [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Treacle Protein [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TCOF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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