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syndroom van spondylo-epifysaire dysplasie, craniosynostose, palatoschisis, cataract en verstandelijke beperking (aandoening)
syndroom van spondylo-epifysaire dysplasie, craniosynostose, palatoschisis, cataract en verstandelijke beperking
syndroom van spondylo-epifysaire dysplasie, craniosynostose, palatoschisis, cataract en verstandelijke handicap
syndroom van spondylo-epifysaire dysplasie, craniosynostose, gespleten gehemelte, cataract en mentale retardatie
spondylo-epifysaire dysplasie type Nishimura
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
Spondyloepiphyseal dysplasia Nishimura type
Spondyloepiphyseal dysplasia Nishimura type has characteristics of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. The syndrome has been described in four Japanese siblings born to nonconsanguineous parents. Most clinical manifestations are evident at birth, but skeletal changes and cataracts may become evident during early childhood.
Id718766002
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van palatum
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