autosomaal recessieve hereditaire aandoening	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	spondylo-epimetafysaire dysplasie
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spondylo-epimetafysaire dysplasie type aggrecan (aandoening)
	spondylo-epimetafysaire dysplasie type aggrecan
	Spondyloepimetaphyseal dysplasia aggrecan type
	Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

Id	719165004
Status	Primitive

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

Has interpretation	onder referentiebereik
Interprets	Body height

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q77.7
Term	Spondylo-epifysaire dysplasie

SNOMED CT to ICD-10 extended map

Target	Q77.7
Rule	TRUE
Advice	ALWAYS Q77.7 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified