agenesie van cerebellum	congenitale hydrocefalie	hereditaire aandoening van zenuwstelsel	hereditaire ontwikkelingsstoornis	X-gebonden hereditaire recessieve aandoening
\|	\|	\|	\|	\|

syndroom van cerebellaire agenesie en hydrocefalie (aandoening)
	syndroom van cerebellaire agenesie en hydrocefalie
	hydrocefalie-cerebellaire agenesie-syndroom cerebellaire agenese met hydrocefalie
	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.

Id	715990006
Status	Primitive

Associated morphology	agenesie
Finding site	gehele cerebellum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dilatatie
Finding site	structuur van liquorcirculatie in hersenen
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

1397

SNOMED CT to ICD-10 extended map

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