fronto-facio-nasal dysplasia

Preferred Label : fronto-facio-nasal dysplasia;

MeSH synonym : fronto-facio-nasal dysostosis; frontofacionasal dysplasia; frontofacionasal dysostosis;

Details

Origin ID

C538063;

UMLS CUI

C2931720;

Automatic exact mappings (from CISMeF team)
- Craniofrontonasal dysplasia [ICD-11 More detail]
- Frontofacionasal dysostosis [ICD-11 More detail]
- Frontofacionasal dysplasia syndrome (disorder) [SNOMED CT concept]
- Oculoauriculofrontonasal syndrome [PASCAL descriptor]
CISMeF manual mappings
- Frontofacionasal dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Frontofacionasal dysplasia [OMIM Phenotype]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- dysostoses [MeSH Descriptor]
- encephalocele [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- facial asymmetry [MeSH Descriptor]
- nose [MeSH Descriptor]
Record concept(s)
- Fronto-facio-nasal dysplasia [MeSH concept]
See also (suggested by CISMeF)
- oculoauriculofrontonasal syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Frontofacionasal dysplasia [OMIM Phenotype]
- Frontofacionasal dysplasia [ORDO Disease]
- Frontofacionasal dysplasia syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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