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syndroom van autosomaal recessieve chorioretinopathie en microcefalie (aandoening)
syndroom van autosomaal recessieve chorioretinopathie en microcefalie
syndroom van autosomaal recessieve chorioretinopathie, microcefalie en verstandelijke beperking
syndroom van autosomaal recessieve chorioretinopathie, microcefalie en verstandelijke handicap
syndroom van autosomaal recessieve chorioretinopathie, microcefalie en mentale retardatie
Autosomal recessive chorioretinopathy and microcephaly syndrome
Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome
A rare neuro-ophthalmological disease with characteristics of severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.
Id770404004
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified