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X-gebonden syndroom van verstandelijke beperking, spasticiteit van extremiteit, retinadystrofie en diabetes insipidus (aandoening)
X-gebonden syndroom van verstandelijke beperking, spasticiteit van extremiteit, retinadystrofie en diabetes insipidus
X-gebonden syndroom van mentale retardatie, spasticiteit van extremiteit, retinadystrofie en diabetes insipidus
X-gebonden syndroom van verstandelijke handicap, spasticiteit van extremiteit, retinadystrofie en diabetes insipidus
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome
A rare genetic neurometabolic disease with characteristics of severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter) described on magnetic resonance imaging have been reported. High prenatal alpha fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.
Id732246009
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE79.8
RuleTRUE
AdviceALWAYS E79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified