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asfyxiërende thoracale dystrofie van Jeune (aandoening)
asfyxiërende thoracale dystrofie van Jeune
syndroom van Jeune
JATD
asfyxiërende thoracale dystrofie
Jeune thoracic dystrophy
Jeune syndrome
Asphyxiating thoracic dystrophy
Jeune thoracic dysplasia
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.
Id75049004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van costa
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyabnormaal korte groei
Finding sitegehele extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset voor pathologie
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.2
RuleTRUE
AdviceALWAYS Q77.2
CorrelationSNOMED CT source code to target map code correlation not specified
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