syndroom van skeletdysplasie, epilepsie en kleine gestalte (aandoening)
syndroom van skeletdysplasie, epilepsie en kleine gestalte
syndroom van Gurrieri-Sammito-Bellussi
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.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen
SNOMED CT to Orphanet simple map1858
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified