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syndroom van spondylo-epifysaire dysplasie en brachydactylie met spraakstoornis (aandoening)
syndroom van spondylo-epifysaire dysplasie en brachydactylie met spraakstoornis
Tattoo-dysplasie
'fantasy Island'-syndroom
spondylo-epifysaire dysplasie type Cantu
Spondyloepiphyseal dysplasia Cantu type
Tattoo dysplasia
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet.
Id718765003
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified