Spondyloepiphyseal dysplasia, Cantu type

Preferred Label : Spondyloepiphyseal dysplasia, Cantu type;

ICD-11 definition : Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).;

Details

Origin ID

897226700;

UMLS CUI

C2673649;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech [OMIM Phenotype]
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome [ORDO Disease]
- spondyloepiphyseal Dysplasia-Brachydactyly and distinctive speech [MeSH Supplementary Concept]
- spondyloepiphyseal Dysplasia-Brachydactyly and distinctive speech [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech [OMIM Phenotype]
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome [ORDO Disease]
- spondyloepiphyseal Dysplasia-Brachydactyly and distinctive speech [MeSH concept]
- spondyloepiphyseal Dysplasia-Brachydactyly and distinctive speech [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia-brachydactyly and distinctive speech [DO Concept]

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