urioste Martinez-Frias syndrome

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;

Détails

Origin ID

C536478;

UMLS CUI

C1856159;

Currated CISMeF NLP mapping
- Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly [OMIM Phenotype]
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- Disorder of Sex Development, 46,XY [MeSH Descriptor]
- abnormalities, multiple [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- cryptorchidism [MeSH Descriptor]
- mullerian ducts [MeSH Descriptor]
- polydactyly [MeSH Descriptor]
Record concept(s)
- Urioste Martinez-Frias syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly [OMIM Phenotype]
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome [ORDO Disease]

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