5q31.3-microdeletiesyndroom (aandoening)
syndroom van ernstige neonatale hypotonie, insulten en encefalopathie door microdeletie van chromosoom 5q31.3
monosomie 5q31.3
5q31.3 microdeletion syndrome
Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion
Syndrome with characteristics of infancy onset hypotonia, feeding difficulties, breathing problems, dysphagia, severely delayed development of speech and motor skills, distinctive facial features, recurrent seizures and seizure-like episodes (muscle jerking, twitching, and stiffening). Brain abnormalities may also be present several of which are caused by reduced production of myelin or delayed maturation of myelin. Caused by a microdeletion occurring on the long (q) arm of chromosome 5 at a position designated q31.3. The deleted region typically contains at least three genes. The loss of one of these genes, PURA, is thought to lead to most of the characteristic features of the condition. The condition is not inherited.
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 5
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map314655
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified