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syndroom van kleine gestalte, hartklepaandoening en kenmerkend aangezicht (aandoening)
syndroom van kleine gestalte, hartklepaandoening en kenmerkend aangezicht
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.1
TermCongenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte
SNOMED CT to Orphanet simple map2868
SNOMED CT to ICD-10 extended map
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1
CorrelationSNOMED CT source code to target map code correlation not specified