SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/717823001
http://purl.bioontology.org/ontology/SNOMEDCT/717823001
Preferred Name

Goldblatt syndrome

Definitions
Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. To date, 11 patients have been reported. Chondrodysplasia has characteristics of mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit. The condition is most probably hereditary, transmitted as an autosomal recessive trait.
Synonyms
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome
Goldblatt chondrodysplasia
Odontochondrodysplasia
Type http://www.w3.org/2002/07/owl#Class
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