Autosomal recessive hereditary disorder	Developmental hereditary disorder	Familial aplasia of the vermis	Hereditary disorder of nervous system
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Joubert syndrome (disorder)
	Joubert syndrome
	Congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Cognitive abilities are variable, ranging from severe intellectual deficit to normal intelligence. Careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrow. The syndrome is genetically heterogeneous. Seven genes, AHI1 (6q23), NPHP1 (2q13), CEP290 (12q21), TMEM67 (8q22), RPGRIP1L (16q12), ARL13B (3p12.3-q12.3) and CC2D2A (4p15), and two loci on chromosomes 9q34 (JBTS1) and 11p12-q13 (CORS2/JBTS2) have been associated with the disease so far. Transmission is autosomal recessive.
	cerebellaire-vermis-agenesiesyndroom
	joubertsyndroom syndroom van Joubert
	syndroom van Joubert
	Erfelijke aandoening met ademhalingsafwijkingen en ernstige motorische en verstandelijke ontwikkelingsstoornissen.

Id	716997004
Status	Primitive

Associated morphology	Aplasia
Finding site	Cerebellar vermis structure
Occurrence	Congenital
Pathological process	Pathological developmental process

PALGA thesaurus simple reference set for pathology

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

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Joubert syndrome with congenital hepatic fibrosis

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Joubert syndrome with ocular defect

Joubert syndrome with oculorenal defect

Joubert syndrome with orofaciodigital defect

Joubert syndrome with renal defect