3q27.3-microdeletiesyndroom (aandoening)
3q27.3 microdeletion syndrome
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 3
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige deleties van deel van chromosoom
SNOMED CT to Orphanet simple map397695
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified