Spondyloepiphyseal dysplasia, Nishimura type

Preferred Label : Spondyloepiphyseal dysplasia, Nishimura type;

ICD-11 definition : Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.;

Details

Origin ID

523290419;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development [OMIM Phenotype]
- 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 mental retardation [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients