cerebellaire-vermis-agenesiesyndroom	congenitale fibrose van lever	hereditaire aandoening van spijsverteringsstelsel
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cerebellaire-vermis-agenesiesyndroom met congenitale leverfibrose (aandoening)
	cerebellaire-vermis-agenesiesyndroom met congenitale leverfibrose
	syndroom van Joubert met congenitale leverfibrose joubertsyndroom met congenitale leverfibrose
	Joubert syndrome with congenital hepatic fibrosis
	COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome Gentile syndrome Joubert syndrome with hepatic defect Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis COACH syndrome
	Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

Id	721847002
Status	Primitive

Associated morphology	fibrose
Finding site	structuur van lever
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	aplasia
Finding site	structuur van vermis cerebelli
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q04.3
Term	Overige onderontwikkeling van hersenen

Target	Q44.7
Term	Overige congenitale misvormingen van lever

SNOMED CT to Orphanet simple map

1454

SNOMED CT to ICD-10 extended map

Target	Q04.3
Rule	TRUE
Advice	ALWAYS Q04.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q44.7
Rule	TRUE
Advice	ALWAYS Q44.7
Correlation	SNOMED CT source code to target map code correlation not specified