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6q-terminale-deletiesyndroom (aandoening)
6q-terminale-deletiesyndroom
6q-deletie
Aangeboren chromosoomafwijkingen waarbij een stukje chromosoom op de lange arm van chromosoom 6 ontbreekt, waardoor er in meer of mindere mate sprake is van een vertraagde lichamelijke en verstandelijke ontwikkeling, gehoorproblemen en spierslapte.
6q terminal deletion syndrome
A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.
Id719666002
StatusPrimitive
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 6
Occurrencecongenitaal
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 6
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map75857
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified