Congenital cerebellar hypoplasia	Congenital malformation of corpus callosum	Genetic disease	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder)
	White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome
	Curatolo Cilio Pessagno syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.
	syndroom van hypoplasie van substantia alba, agenesie van corpus callosum en verstandelijke beperking
	syndroom van wittestofhypoplasie, afwezigheid van corpus callosum en verstandelijke handicap syndroom van hypoplasie van substantia alba, agenesie van corpus callosum en mentale retardatie

Id	783703004
Status	Primitive

Associated morphology	Hypoplasia
Finding site	Cerebellar white matter structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Associated morphology	Maturation defect
Finding site	Corpus callosum structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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