richieri costa Guion-Almeida syndrome

Preferred Label : richieri costa Guion-Almeida syndrome;

MeSH synonym : richieri costa Guion-Almeida dwarfism; acrofacial dysostosis richieri costa Guion-Almeida type; Richieri-Costa Guion-Almeida cohen syndrome;

Details

Origin ID

C535676;

UMLS CUI

C2930979;

Automatic exact mappings (from CISMeF team)
- Richieri-costa/guion-almeida syndrome [OMIM Phenotype]
Currated CISMeF NLP mapping
- Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- foot deformities, congenital [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- mandibulofacial dysostosis [MeSH Descriptor]
Record concept(s)
- Richieri Costa Guion-Almeida syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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