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. |
| Id | 719823007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 3201 |
SNOMED CT to ICD-10 extended map | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|