autosomaal dominante hereditaire aandoening	congenitale afwijking van bot van bekken	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	korte-rib-dysplasie
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thoracolaryngopelvische dysplasie (aandoening)
	thoracolaryngopelvische dysplasie
	syndroom van Barnes
	Thoracolaryngopelvic dysplasia
	Barnes syndrome Thoracolaryngopelvic dysplasia syndrome
	Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.

Id	723556008
Status	Primitive

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

Associated morphology	morfologische afwijking
Finding site	botstructuur van pelvis
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	Q77.2
Term	Korte-ribsyndroom

SNOMED CT to Orphanet simple map

3317

SNOMED CT to ICD-10 extended map

Target	Q77.2
Rule	TRUE
Advice	ALWAYS Q77.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified