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syndroom van chondrodysplasie, dentinogenesis imperfecta en gewrichtslaxiteit (aandoening)
syndroom van chondrodysplasie, dentinogenesis imperfecta en gewrichtslaxiteit
odontochondrodysplasie
syndroom van Goldblatt
Goldblatt-chondrodysplasie
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.
Id717823001
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van dentine
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLimb length
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ78.8
TermOverige gespecificeerde osteochondrodysplasie├źn
SNOMED CT to Orphanet simple map166272
SNOMED CT to ICD-10 extended map
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