Anomaly of chromosome pair 17	Autosomal dominant hereditary disorder	Developmental delay	Developmental hereditary disorder	Multiple malformation syndrome with facial defects as major feature
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Koolen De Vries syndrome (disorder)
	Koolen De Vries syndrome
	A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267.
	Koolen-De Vries-syndroom
	KdVS syndroom van Koolen-De Vries

Id	717338006
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Cellular AND/OR subcellular abnormality
Finding site	Chromosome pair 17
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q93.5
Rule	TRUE
Advice	ALWAYS Q93.5
Correlation	SNOMED CT source code to target map code correlation not specified