multiple epiphyseal dysplasia with robin phenotype

Preferred Label : multiple epiphyseal dysplasia with robin phenotype;

MeSH synonym : epiphyseal dysplasia, multiple, with robin phenotype;

Origin ID

C563291;

UMLS CUI

C1832112;

Currated CISMeF NLP mapping
- Multiple epiphyseal dysplasia Lowry type (disorder) [SNOMED CT concept]
- Multiple epiphyseal dysplasia with robin phenotype [OMIM Phenotype]
- Multiple epiphyseal dysplasia, Lowry type [ORDO Disease]
MeSH term(s) associated for indexing
- cleft palate [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- micrognathism [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- multiple epiphyseal dysplasia with robin phenotype [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple epiphyseal dysplasia Lowry type (disorder) [SNOMED CT concept]
- Multiple epiphyseal dysplasia with robin phenotype [OMIM Phenotype]
- Multiple epiphyseal dysplasia, Lowry type [ORDO Disease]