Autosomal recessive hereditary disorder	Chronic disease of musculoskeletal system	Chronic nervous system disorder	Congenital anomaly of skeletal bone	Congenital neurological disorder	Disorder of visual pathways	Hereditary degenerative disease of central nervous system	Hereditary retinal dystrophy	Spondylometaphyseal dysplasia
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Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
	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.
	syndroom van spondylometafysaire dysplasie met kegel-staafdystrofie
	SMD-CRD

Id	719205008
Status	Primitive

Associated morphology	Dystrophy
Finding site	Neuroepithelial layer
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Clinical course

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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