spondyloepiphyseal dysplasia with punctate corneal dystrophy

Preferred Label : spondyloepiphyseal dysplasia with punctate corneal dystrophy;

Origin ID

C566660;

UMLS CUI

C1866727;

Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia with punctate corneal dystrophy [OMIM Phenotype]
- Spondyloepiphyseal dysplasia, Byers type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, Byers type [ORDO Disease]
MeSH term(s) associated for indexing
- corneal dystrophies, hereditary [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia with punctate corneal dystrophy [OMIM Phenotype]
- Spondyloepiphyseal dysplasia, Byers type [ORDO Disease]
- Spondyloepiphyseal dysplasia, Byers type [ICD-11 More detail]