autosomaal dominante hereditaire aandoening	congenitale spondylo-epifysaire dysplasie	dwerggroei	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis
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spondylo-epifysaire dysplasie Reardon-type (aandoening)
	spondylo-epifysaire dysplasie Reardon-type
	Spondyloepiphyseal dysplasia Reardon type
	An extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and with characteristics of short stature, vertebral and femoral abnormalities, cervical instability and neurological manifestations secondary to anomalies of the odontoid process.

Id	718764004
Status	Primitive

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

Interprets

meetbare observatie betreffende lengte en/of groei

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q77.7
Term	Spondylo-epifysaire dysplasie

SNOMED CT to Orphanet simple map

163662

SNOMED CT to ICD-10 extended map

Target	Q77.7
Rule	TRUE
Advice	ALWAYS Q77.7
Correlation	SNOMED CT source code to target map code correlation not specified