Agenesis of cerebellum	Congenital hydrocephalus	Developmental hereditary disorder	Hereditary disorder of nervous system	X-linked recessive hereditary disease
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Agenesis of cerebellum and hydrocephalus syndrome (disorder)
	Cerebellum agenesis with hydrocephaly
	Agenesis of cerebellum and hydrocephalus syndrome
	This syndrome has features of infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy also reported. It has been described in four patients from two families.
	syndroom van cerebellaire agenesie en hydrocefalie
	hydrocefalie-cerebellaire agenesie-syndroom cerebellaire agenese met hydrocefalie

Id	715990006
Status	Primitive

Associated morphology	Agenesis
Finding site	Entire cerebellum
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dilatation
Finding site	Brain cerebrospinal fluid pathway
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q04.3
Rule	TRUE
Advice	ALWAYS Q04.3
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q03.9
Rule	TRUE
Advice	ALWAYS Q03.9
Correlation	SNOMED CT source code to target map code correlation not specified