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
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| Id | 717823001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | Q78.8 | Rule | TRUE | Advice | ALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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