syndroom van partiële distale trisomie 14q (aandoening)
syndroom van partiële distale trisomie 14q
partiële distale trisomie van lange arm van chromosoom 14
partiële distale trisomie van chromosoom 14q
14q partial distal trisomy syndrome
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.
Associated morphologypartiële trisomie
Finding sitechromosomenpaar 14
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde totale en partiële trisomieën van autosomen
SNOMED CT to Orphanet simple map1705
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q92.8
CorrelationSNOMED CT source code to target map code correlation not specified