aandoening van optische banen	autosomaal recessieve hereditaire aandoening	chronische ziekte van bewegingsapparaat	chronische ziekte van zenuwstelsel	congenitale afwijking van benig skelet	hereditaire degeneratieve aandoening van centraal zenuwstelsel	hereditaire retinadystrofie	spondylometafysaire dysplasie
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syndroom van spondylometafysaire dysplasie met kegel-staafdystrofie (aandoening)
	syndroom van spondylometafysaire dysplasie met kegel-staafdystrofie
	SMD-CRD
	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
	This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

Id	719205008
Status	Primitive

Associated morphology	dystrofie
Finding site	structuur van stratum neuroepitheliale retinae
Pathological process	proces van pathologische ontwikkeling

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

Clinical course

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q77.8
Term	Overige gespecificeerde vormen van osteochondrodysplasie met groeistoornissen van pijpbeenderen en wervelkolom

Target	H35.5
Term	Hereditaire retinadystrofie

SNOMED CT to Orphanet simple map

85167

SNOMED CT to ICD-10 extended map

Target	Q77.8
Rule	TRUE
Advice	ALWAYS Q77.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H35.5
Rule	TRUE
Advice	ALWAYS H35.5
Correlation	SNOMED CT source code to target map code correlation not specified