autosomaal dominante hereditaire aandoening	congenitale anomalie van chromosomenpaar 17	hereditaire ontwikkelingsstoornis	ontwikkelingsachterstand	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
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Koolen-De Vries-syndroom (aandoening)
	Koolen-De Vries-syndroom
	KdVS syndroom van Koolen-De Vries
	Koolen De Vries syndrome
	A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.

Id	717338006
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van aangezicht
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	cellulaire en/of subcellulaire afwijking
Finding site	chromosomenpaar 17
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q93.5
Term	Overige deleties van deel van chromosoom

SNOMED CT to Orphanet simple map

96169

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified