Mandibulofacial dysostosis

Preferred Label : Mandibulofacial dysostosis;

Inclusion CIM-10 : Treacher Collins syndrome; Franceschetti syndrome;

Diag associé à un acte (%) : 85.1;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q754;

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
- Franceschetti's syndrome [MedDRA LLT]
- Mandibulofacial dysostosis [HPO term]
- Mandibulofacial dysostosis [MedDRA Preferred Term]
- Mandibulofacial dysostosis [ORDO Disease]
- Mandibulofacial dysostosis [ICD-10 Sub-category (who)]
- Mandibulofacial dysostosis [PASCAL descriptor]
- Treacher Collins Syndrome [NCIt concept]
- Treacher Collins syndrome [DO Concept]
- Treacher Collins syndrome [PASCAL descriptor]
- 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 [MeSH concept]
- mandibulofacial dysostosis [MeSH Descriptor]
- mandibulofacial dysostosis [Disease (Nov.)]
- treacher collins syndrome [SNOMED Notion]
DO Cross reference
- Treacher Collins syndrome [DO Concept]
Orphanet concepts
- Acrodysostosis [ORDO Disease]
- Acrodysostosis with multiple hormone resistance [ORDO Disease]
- Acrofacial dysostosis, Catania type [ORDO Disease]
- Acrofacial dysostosis, Kennedy-Teebi type [ORDO Disease]
- Acrofacial dysostosis, Palagonia type [ORDO Disease]
- Acrofacial dysostosis, Rodríguez type [ORDO Disease]
- Acrofacial dysostosis, Weyers type [ORDO Disease]
- Hypomandibular faciocranial dysostosis [ORDO Disease]
- Mandibulofacial dysostosis [ORDO Disease]
- Mandibulofacial dysostosis with alopecia [ORDO Disease]
- Nager syndrome [ORDO Disease]
- Postaxial acrofacial dysostosis [ORDO Disease]
- Treacher-Collins syndrome [ORDO Disease]
- X-linked mandibulofacial dysostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Franceschetti's syndrome [MedDRA LLT]
- Mandibulofacial dysostosis [MedDRA Preferred Term]
- Mandibulofacial dysostosis [HPO term]
- Mandibulofacial dysostosis [ORDO Disease]
- Mandibulofacial dysostosis [PASCAL descriptor]
- Treacher Collins Syndrome [NCIt concept]
- 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 [MeSH Descriptor]
- mandibulofacial dysostosis [MeSH concept]
- mandibulofacial dysostosis [Disease (Nov.)]
- treacher collins syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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