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Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)
Goldblatt syndrome
Goldblatt chondrodysplasia
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome
Odontochondrodysplasia
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.
syndroom van chondrodysplasie, dentinogenesis imperfecta en gewrichtslaxiteit
Goldblatt-chondrodysplasie
odontochondrodysplasie
syndroom van Goldblatt
Id717823001
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteDentin structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified