spondyloepiphyseal dysplasia, myopia, and sensorineural deafness

Preferred Label : spondyloepiphyseal dysplasia, myopia, and sensorineural deafness;

Origin ID

C566659;

UMLS CUI

C1866719;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, MacDermot type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, MacDermot type [ORDO Disease]
- Spondyloepiphyseal dysplasia, myopia, and sensorineural deafness [OMIM Phenotype]
MeSH term(s) associated for indexing
- hearing loss, sensorineural [MeSH Descriptor]
- myopia [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- spondyloepiphyseal dysplasia, myopia, and sensorineural deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia, MacDermot type [ORDO Disease]
- Spondyloepiphyseal dysplasia, myopia, and sensorineural deafness [OMIM Phenotype]