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syndroom van palatoschisis, stijgbeugelfixatie en oligodontie (aandoening)
syndroom van palatoschisis, stijgbeugelfixatie en oligodontie
syndroom van palatoschisis, stapesfixatie en oligodontie
syndroom van gespleten gehemelte, stijgbeugelfixatie en oligodontie
Cleft palate with stapes fixation and oligodontia syndrome
Syndrome with characteristics of cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.
Id719468005
StatusPrimitive
Associated morphologyafwezigheid
Finding sitegehele melkelement
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitaal afwijkend aantal
Finding sitegehele melkelement
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van palatum molle
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitebotstructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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