opitz reynolds fitzgerald syndrome

Preferred Label : opitz reynolds fitzgerald syndrome;

MeSH note : Bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia;

Details

Origin ID

C535713;

UMLS CUI

C2930992;

Currated CISMeF NLP mapping
- Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- facial asymmetry [MeSH Descriptor]
- mandibulofacial dysostosis [MeSH Descriptor]
Record concept(s)
- Opitz Reynolds Fitzgerald syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome [ORDO Disease]

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