3q27.3-microdeletiesyndroom (aandoening) DEPRECATED
3q27.3-microdeletiesyndroom
3q27.3 microdeletion syndrome
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by 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.
Id770719004
StatusPrimitive
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2025-07-01)
REPLACED BY association reference set1367900004 | 3q26q28-deletiesyndroom | (2025-07-01)
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
SNOMED CT to Orphanet simple map397695