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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)
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.3
TermOverige onderontwikkeling van hersenen
TargetQ77.2
TermKorte-ribsyndroom
SNOMED CT to Orphanet simple map397715
SNOMED CT to ICD-10 extended map
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