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aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van verstandelijke beperking door 21q22.13q22.2-microdeletie (aandoening)
aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van verstandelijke beperking door 21q22.13q22.2-microdeletie
aan duale specificiteit tyrosinefosforylatie-gereguleerde kinase 1A gerelateerd syndroom van mentale retardatie door 21q22.13q22.2-microdeletie
DYRK1A-gerelateerd intellectuele-achterstandssyndroom door microdeletie van 21q22.13q22.2
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Monosomy 21q22.13q22.2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.
Id783619003
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 21
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified