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syndroom van hypoplasie van radius, trifalangeale digitus I, hypospadie en maxillair diasteem (aandoening)
syndroom van hypoplasie van radius, trifalangeale digitus I, hypospadie en maxillair diasteem
syndroom van Schmitt-Gillenwater-Kelly
syndroom van hypoplasie van radius, trifalangeale duim, hypospadie en maxillair diasteem
Schmitt Gillenwater Kelly syndrome
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome
This syndrome has manifestation of symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.
Id716092007
StatusPrimitive
Has interpretationverhoogd
Interprets'spacing' van gebitselementen
Associated morphologyhypoplasie
Finding sitebotstructuur van radius
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified