autosomaal dominante hereditaire aandoening	congenitale spondylo-epifysaire dysplasie	gehoorverlies bij syndroom	hereditair gehoorverlies	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	myopie	perceptief gehoorverlies
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syndroom van spondylo-epifysaire dysplasie, myopie en sensoneurinale doofheid (aandoening)
	syndroom van spondylo-epifysaire dysplasie, myopie en sensoneurinale doofheid
	spondylo-epifysaire dysplasie type MacDermot
	Spondyloepiphyseal dysplasia MacDermot type
	Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome
	Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.

Id	718763005
Status	Primitive

Finding site

structuur van visueel systeem

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

Finding site

structuur van auditief systeem

Has interpretation	gestoord
Interprets	gehoorfunctie

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

163668

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