epiphyseal dysplasia, multiple, with myopia and conductive deafness

Preferred Label : epiphyseal dysplasia, multiple, with myopia and conductive deafness;

Origin ID

C565046;

UMLS CUI

C1851536;

Currated CISMeF NLP mapping
- Epiphyseal dysplasia, multiple, with myopia and conductive deafness [OMIM Phenotype]
- Multiple epiphyseal dysplasia Beighton type (disorder) [SNOMED CT concept]
- Multiple epiphyseal dysplasia, Beighton type [ICD-11 More detail]
- Multiple epiphyseal dysplasia, Beighton type [ORDO Disease]
- multiple epiphyseal dysplasia with myopia and deafness [DO Concept]
DO Cross reference
- multiple epiphyseal dysplasia with myopia and deafness [DO Concept]
MeSH term(s) associated for indexing
- hearing loss, conductive [MeSH Descriptor]
- myopia [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- epiphyseal dysplasia, multiple, with myopia and conductive deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epiphyseal dysplasia, multiple, with myopia and conductive deafness [OMIM Phenotype]
- Multiple epiphyseal dysplasia, Beighton type [ORDO Disease]
- multiple epiphyseal dysplasia with myopia and deafness [DO Concept]