Autosomal dominant hereditary disorder	Congenital anomaly of skeletal bone	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with facial defects as major feature	Short stature disorder
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Velofacioskeletal syndrome (disorder)
	Velofacioskeletal syndrome
	Velo-facial-skeletal syndrome
	A very rare multiple congenital anomalies syndrome with short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.
	velo-faciaal-skeletaal syndroom

Id	763616002
Status	Primitive

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

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

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified