Jeune thoracic dystrophy	Joubert syndrome
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Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
	Joubert syndrome with Jeune asphyxiating thoracic dystrophy
	Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy)
	An extremely rare genetic bone disorder with characteristics of the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia, cognitive impairment, and abnormal eye movements), associated with the skeletal anomalies found in Jeune asphyxiating thoracic dystrophy including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs and metaphyseal changes.
	Joubertsyndroom met asfyxiërende thoracale dystrofie van Jeune
	Joubertsyndroom met JATD JBTS met JATD

Id	733418003
Status	Primitive

Associated morphology	Abnormally short growth
Finding site	Entire limb
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Associated morphology	Dysplasia
Finding site	Bone structure of rib
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 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q77.2
Rule	TRUE
Advice	ALWAYS Q77.2
Correlation	SNOMED CT source code to target map code correlation not specified