spondyloepiphyseal Dysplasia-Brachydactyly and distinctive speech

Preferred Label : spondyloepiphyseal Dysplasia-Brachydactyly and distinctive speech;

MeSH synonym : tattoo dysplasia; fantasy island syndrome; SED-BDS;

Details

Origin ID

C567128;

UMLS CUI

C2673649;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Cantu type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech [OMIM Phenotype]
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- brachydactyly [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- 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, Cantu type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech [OMIM Phenotype]
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome [ORDO Disease]
- spondyloepiphyseal dysplasia-brachydactyly and distinctive speech [DO Concept]

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