spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness

Preferred Label : spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness;

Origin ID

C566507;

UMLS CUI

C1865022;

Currated CISMeF NLP mapping
- Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness [OMIM Phenotype]
MeSH term(s) associated for indexing
- calcinosis [MeSH Descriptor]
- hearing loss [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness [OMIM Phenotype]