autosomaal recessieve hereditaire aandoening	congenitaal lengtedefect van extremiteit	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	korte-rib-dysplasie
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asfyxiërende thoracale dystrofie van Jeune (aandoening)
	asfyxiërende thoracale dystrofie van Jeune
	JATD asfyxiërende thoracale dystrofie syndroom van Jeune
	Jeune thoracic dystrophy
	Asphyxiating thoracic dystrophy Jeune thoracic dysplasia Jeune syndrome
	Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes.

Id	75049004
Status	Primitive

Associated morphology	abnormaal korte groei
Finding site	gehele extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dysplasie
Finding site	botstructuur van costa
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

PALGA thesaurus simple reference set for pathology

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

474

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

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Joubertsyndroom met asfyxiërende thoracale dystrofie van Jeune