spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation

Preferred Label : spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation;

Origin ID

C566515;

UMLS CUI

C1865134;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development [OMIM Phenotype]
- Spondyloepiphyseal dysplasia, Nishimura type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, nishimura type [OMIM Phenotype]
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome [ORDO Disease]
- spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability [DO Concept]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- craniosynostoses [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development [OMIM Phenotype]
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome [ORDO Disease]