acrofrontofacionasal dysostosis syndrome

Preferred Label : acrofrontofacionasal dysostosis syndrome;

CISMeF synonym : cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly; polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip/palate; acrofrontofacionasal dysostosis 1;

MeSH synonym : acro fronto facio nasal dysostosis;

MeSH hyponym : Polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip-palate; Cleft lip-palate with frontonasal dysostosis and postaxial polysyndactyly;

Details

Origin ID

C538186;

UMLS CUI

C1860118;

Automatic exact mappings (from CISMeF team)
- Acrofrontofacionasal dysostosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acrofrontofacionasal dysostosis [ORDO Disease]
- Acrofrontofacionasal dysostosis 1 [OMIM Phenotype]
DO Cross reference
- acrofrontofacionasal dysostosis [DO Concept]
MeSH term(s) associated for indexing
- mandibulofacial dysostosis [MeSH Descriptor]
Record concept(s)
- Acrofrontofacionasal Dysostosis 1 [MeSH concept]
- Acrofrontofacionasal dysostosis syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrofrontofacionasal dysostosis [ORDO Disease]
- Acrofrontofacionasal dysostosis (disorder) [SNOMED CT concept]
- Acrofrontofacionasal dysostosis 1 [OMIM Phenotype]
- acrofrontofacionasal dysostosis [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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