Preferred Label : urioste Martinez-Frias syndrome;
MeSH note : Persistence of mullerian derivatives, with lymphangiectasia and postaxial polydactyly;
Renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis,
hepatic failure, postaxial polydactyly; Mullerian Derivatives, Persistence Of, With
Lymphangiectasia And Postaxial Polydactyly;
CISMeF synonym : persistence of mullerian derivatives, with lymphangiectasia and postaxial polydactyly; renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis,
hepatic failure, postaxial polydactyly;
MeSH synonym : urioste syndrome;
Origin ID : C536478;
UMLS CUI : C1856159;
Currated CISMeF NLP mapping
MeSH term(s) associated for indexing
Record concept(s)
Semantic type(s)
UMLS correspondences (same concept)
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1655
2006
France
French
rare diseases
signs and symptoms
rare diseases
mullerian ducts
cryptorchidism
urioste Martinez-Frias syndrome
craniofacial abnormalities
abnormalities, multiple
polydactyly
Disorder of Sex Development, 46,XY
scientific and technical information
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