autosomaal dominante hereditaire aandoening	congenitale spondylo-epifysaire dysplasie	dwerggroei	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk
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syndroom van spondylo-epifysaire dysplasie en brachydactylie met spraakstoornis (aandoening)
	syndroom van spondylo-epifysaire dysplasie en brachydactylie met spraakstoornis
	spondylo-epifysaire dysplasie type Cantu Tattoo-dysplasie 'fantasy Island'-syndroom
	Spondyloepiphyseal dysplasia Cantu type
	Tattoo dysplasia Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome
	An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet.

Id	718765003
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

Associated morphology	morfologische afwijking
Finding site	structuur van aangezicht
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

163654

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