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Joubertsyndroom met asfyxiërende thoracale dystrofie van Jeune (aandoening)
Joubertsyndroom met asfyxiërende thoracale dystrofie van Jeune
Joubertsyndroom met JATD
JBTS met JATD
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy)
An extremely rare genetic bone disorder with characteristics of the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia, cognitive impairment, and abnormal eye movements), associated with the skeletal anomalies found in Jeune asphyxiating thoracic dystrophy including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs and metaphyseal changes.
Id733418003
StatusPrimitive
Associated morphologyabnormaal korte groei
Finding sitegehele extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyaplasia
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van costa
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ77.2
RuleTRUE
AdviceALWAYS Q77.2
CorrelationSNOMED CT source code to target map code correlation not specified