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Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder)
Ectrodactyly-ectodermal dysplasia-clefting syndrome
Rudiger's syndrome
EEC - Ectodermal dysplasia with ectrodactyly and cleft lip or palate
Ectodermal dysplasia with ectrodactyly and cleft lip or palate
EEC syndrome
syndroom van ectrodactylie, ectodermale dysplasie en schisis
syndroom van Rudiger
EEC-syndroom
syndroom van ectrodactylie, ectodermale dysplasie en gespleten lip of gehemelte
'ectrodactyly-ectodermal dysplasia-clefting'-syndroom
Rudiger-syndroom
EEC-syndroom
Ectrodactyly-ectodermal dysplasia-clefting syndroom; aangeboren stoornis met als mogelijke (combinatie van) kenmerken een gespleten hand en voet, waarbij vaak de middelste drie vingers of tenen ontbreken, een gespleten lip of gehemelte, afwijkingen in de ontwikkeling van traanbuizen die ontsteking van de oogleden, hoornvlies en bindvlies kunnen veroorzaken, onverdraagzaamheid van licht, haarproblemen, abnormale nagels, nierproblemen, afwezigheid van tanden, punttanden en gehoorverlies.
Id39788007
StatusPrimitive
Associated morphologyDysplasia
Finding siteEctoderm structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbsence
Finding siteEntire digit
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteHair structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbnormal
InterpretsSweating
Associated morphologyMorphologically abnormal structure
Finding siteTooth structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified