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syndroom van kleine gestalte, hartklepaandoening en kenmerkende gelaatstrekken (aandoening)
syndroom van kleine gestalte, hartklepaandoening en kenmerkende gelaatstrekken
Short stature with valvular heart disease and characteristic facies syndrome
This syndrome has characteristics of severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.
Id716193004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1
CorrelationSNOMED CT source code to target map code correlation not specified