Multiple epiphyseal dysplasia, Beighton type

Preferred Label : Multiple epiphyseal dysplasia, Beighton type;

ICD-11 definition : Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.;

Details

Origin ID

1115252418;

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 [ORDO Disease]
- epiphyseal dysplasia, multiple, with myopia and conductive deafness [MeSH concept]
- epiphyseal dysplasia, multiple, with myopia and conductive deafness [MeSH Supplementary Concept]
- multiple epiphyseal dysplasia with myopia and deafness [DO Concept]

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