Autosomal dominant hereditary disorder	Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder)
	Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, stereotypic movements and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth). Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria or white matter abnormalities.
	syndroom van microcefalie, hypoplasie van corpus callosum en vermis cerebelli, faciale dysmorfie en verstandelijke beperking
	syndroom van microcefalie, hypoplasie van corpus callosum en vermis cerebelli, faciale dysmorfie en mentale retardatie syndroom van microcefalie, hypoplasie van corpus callosum en vermis cerebelli, faciale dysmorfie en verstandelijke handicap

Id	1167375003
Status	Primitive

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