Deafness - epiphyseal dysplasia - short stature

Preferred Label : Deafness - epiphyseal dysplasia - short stature;

ICD-11 definition : Deafness - epiphyseal dysplasia - short stature syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).;

Détails

Origin ID

1692558024;

Automatic exact mappings (from CISMeF team)
- Chitty Hall Baraitser syndrome [MeSH concept]
- Deafness-epiphyseal dysplasia-short stature syndrome [ORDO Disease]
- Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction [OMIM Phenotype]
- chitty hall baraitser syndrome [MeSH Supplementary Concept]

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