Autosomal dominant hereditary disorder	Cardiovascular system hereditary disorder	Congenital anomaly of heart valve	Developmental hereditary disorder	Multiple malformation syndrome, moderate short stature, facial
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Short stature with valvular heart disease and characteristic facies syndrome (disorder)
	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.
	syndroom van kleine gestalte, hartklepaandoening en kenmerkend aangezicht
	syndroom van kleine gestalte, hartklepaandoening en kenmerkende gelaatstrekken

Id	716193004
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Cardiac valve structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1
Correlation	SNOMED CT source code to target map code correlation not specified