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syndroom van niet-doorgankelijke orofarynx en costovertebrale anomalie├źn (aandoening)
syndroom van niet-doorgankelijke orofarynx en costovertebrale anomalie├źn
syndroom van Seghers
Seghers-syndroom
Imperforate oropharynx, costovertebral anomalies syndrome
Seghers syndrome
A dysostosis with predominant vertebral and costal involvement and characteristics of oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
Id771185000
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van wervelkolom
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyatresie
Finding sitestructuur van pars oralis pharyngis
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
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2759
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