SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/723584003
http://purl.bioontology.org/ontology/SNOMEDCT/723584003
Preferred Name

Stern Lubinsky Durrie syndrome

Definitions
Syndrome with characteristics of corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.
Synonyms
Stern Lubinsky Durrie syndrome (disorder)
Corneodermatoosseous syndrome
Corneo-dermato-osseous syndrome
Type http://www.w3.org/2002/07/owl#Class
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