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19p13.13-microdeletiesyndroom (aandoening)
19p13.13-microdeletiesyndroom
19p13.13 microdeletion syndrome
Chromosome 19p13.13 deletion syndrome
Monosomy 19p13.13
Syndrome with common characteristics of macrocephaly, tall stature and intellectual disability that is usually moderate in severity. Many affected individuals have significantly delayed development, hypotonia and ataxia. Other manifestations include seizures, abnormalities of brain structure and mild facial dysmorphism for example prominent forehead. The syndrome is not typically inherited.
Id764440006
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 19
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
SNOMED CT to Orphanet simple map357001
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified