richieri costa pereira syndrome

Preferred Label : richieri costa pereira syndrome;

MeSH note : Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot;

MeSH synonym : Richieri-Costa and pereira form of acrofacial dysostosis; robin sequence with cleft mandible and limb anomalies; Richieri-Costa-Pereira syndrome;

Details

Origin ID

C535677;

UMLS CUI

C1849348;

Currated CISMeF NLP mapping
- Richieri Costa-Pereira syndrome [ORDO Disease]
- Robin sequence with cleft mandible and limb anomalies [OMIM Phenotype]
- Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- clubfoot [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- pierre robin syndrome [MeSH Descriptor]
ORDO relation(s)
- Richieri Costa-Pereira syndrome [ORDO Disease]
Record concept(s)
- Richieri Costa Pereira syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Richieri Costa-Pereira syndrome [ORDO Disease]
- Robin sequence with cleft mandible and limb anomalies [OMIM Phenotype]
- Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) [SNOMED CT concept]

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