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syndroom van ventriculaire extrasystolie met syncope, congenitale anomalie van digitus en sequentie van Robin (aandoening)
syndroom van ventriculaire extrasystolie met syncope, congenitale anomalie van digitus en sequentie van Robin
Stoll-Kieny-Dott-syndroom
syndroom van Stoll-Kieny-Dott
syndroom van ventriculaire extrasystolie met syncope, perodactylie en Pierre Robin-sequentie
syndroom van ventriculaire extrasystolie met syncope, perodactylie, micrognathie, palatoschisis en glossoptose
syndroom van ventriculaire extrasystolie met syncope, perodactylie en Robin-sequentie
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome
Stoll Kieny Dott syndrome
This syndrome has characteristics of cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. It has initially been reported in six patients from three generations of one family. Four affected members of another family manifesting a similar constellation of clinical features have recently been reported. An additional feature may be an antimongoloid slant of the palpebral fissures.
Id719823007
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van subregio van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map3201
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified