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.;

Détails

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]

Position du mot-clé dans l'(les) arborescence(s) :

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