syndroom van distale trisomie 7p (aandoening)
syndroom van distale trisomie 7p
telomerische duplicatie 7p
distale trisomie 7p
distale trisomie van korte arm van chromosoom 7
Distal trisomy 7p syndrome
Distal duplication 7p
Distal trisomy 7p
A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7. The disorder has a highly variable phenotype with typical characteristics of severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro/retrognathia) and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 7
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermTrisomie van kleinste deel chromosoom
SNOMED CT to Orphanet simple map96074
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q92.3
CorrelationSNOMED CT source code to target map code correlation not specified