autosomaal dominante hereditaire aandoening	chronische ziekte van bewegingsapparaat	congenitale afwijking van benig skelet	dysplasie met verhoogde botdichtheid	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis
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ziekte van Camurati-Engelmann (aandoening)
	ziekte van Camurati-Engelmann
	diafysaire dysplasie
	Diaphyseal dysplasia
	Progressive diaphyseal dysplasia Osteopathia hyperostotica multiplex infantis Diaphyseal sclerosis Engelmann syndrome Engelmann's disease Engelman's disease Camurati-Engelmann syndrome
	Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

Id	34643004
Status	Primitive

Associated morphology	dysplasie
Finding site	structuur van diafyse
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Clinical course

Has interpretation	boven referentiebereik
Interprets	botdensitometrie

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q78.3
Term	Progressieve diafysaire dysplasie

SNOMED CT to Orphanet simple map

1328

SNOMED CT to ICD-10 extended map

Target	Q78.3
Rule	TRUE
Advice	ALWAYS Q78.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified