Autosomal recessive hereditary disorder	Congenital anomaly of skeletal bone	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Intellectual disability	Short stature disorder	Skeletal dysplasia
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Skeletal dysplasia with epilepsy and short stature syndrome (disorder)
	Skeletal dysplasia with epilepsy and short stature syndrome
	Gurrieri Sammito Bellussi syndrome
	Moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.
	syndroom van skeletdysplasie, epilepsie en kleine gestalte
	syndroom van Gurrieri-Sammito-Bellussi

Id	715428003
Status	Primitive

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.5
Rule	TRUE
Advice	ALWAYS Q87.5
Correlation	SNOMED CT source code to target map code correlation not specified