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syndroom van chondrodysplasie, dentinogenesis imperfecta en gewrichtslaxiteit (aandoening)
syndroom van chondrodysplasie, dentinogenesis imperfecta en gewrichtslaxiteit
Goldblatt-chondrodysplasie
odontochondrodysplasie
syndroom van Goldblatt
Goldblatt syndrome
Odontochondrodysplasia
Goldblatt chondrodysplasia
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome
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.
Id717823001
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van dentine
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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