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Crane-Heise-syndroom (aandoening)
Crane-Heise-syndroom
syndroom met gespleten lip en gehemelte, talipes en agenese van sleutelbeen en halswervel
syndroom met cheiloschisis en palatoschisis, pes equinovarus en agenesie van clavicula en vertebra cervicalis
syndroom van Crane-Heise
Crane Heise syndrome
A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth.
Id715991005
StatusPrimitive
Associated morphologyaplasia
Finding sitebotstructuur van clavicula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified