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Cleft palate with stapes fixation and oligodontia syndrome (disorder)
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.
syndroom van palatoschisis, stijgbeugelfixatie en oligodontie
syndroom van palatoschisis, stapesfixatie en oligodontie
syndroom van gespleten gehemelte, stijgbeugelfixatie en oligodontie
Id719468005
StatusPrimitive
Associated morphologyFusion
Finding siteStapes structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital abnormal number
Finding siteTooth structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbsence
Finding siteDentition
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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