Genetic disease	Multiple malformation syndrome with early overgrowth	Multiple malformation syndrome with facial defects as major feature	Skeletal dysplasia
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Kosaki overgrowth syndrome (disorder)
	Kosaki overgrowth syndrome
	Skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip and pointed chin) hyperelastic, thin and fragile skin, lipodystrophy and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation and cerebrovascular complications among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.
	Kosaki-overgroeisyndroom
	overgroeisyndroom van Kosaki syndroom van skeletale overgroei, craniofaciale dysmorfie, hyperelastische huid en wittestoflaesie syndroom van overgroei van skelet, craniofaciale dysmorfie, hyperelastische huid en wittestofafwijking

Id	1172898008
Status	Primitive

Associated morphology	Dysplasia
Finding site	Skeletal system structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

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