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syndroom van distale trisomie 9q (aandoening)
syndroom van distale trisomie 9q
telomerische duplicatie 9q
distale trisomie van lange arm van chromosoom 9
distale trisomie 9q
Distal trisomy 9q
Telomeric duplication 9q
Distal duplication 9q
A rare chromosomal anomaly resulting from the partial trisomy of the long arm of chromosome 9 with a variable phenotype. The disease has characteristics of psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.
Id764520001
StatusPrimitive
Associated morphologypartiƫle trisomie
Finding sitechromosomenpaar 9
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ92.3
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map96101
SNOMED CT to ICD-10 extended map
TargetQ92.3
RuleTRUE
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified