autosomaal recessieve hereditaire aandoening
chronische encefalopathie
corticale blindheid
hereditaire aandoening van visueel systeem
hereditaire aandoening van zenuwstelsel
microcefalie
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syndroom van microcefalie, epileptische aanvallen, corticale blindheid en ontwikkelingsachterstand (aandoening)
syndroom van microcefalie, epileptische aanvallen, corticale blindheid en ontwikkelingsachterstand
syndroom van microcefalie, convulsies, corticale blindheid en ontwikkelingsachterstand
syndroom van microcefalie, insulten, corticale blindheid en ontwikkelingsachterstand
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
A rare genetic neuro-ophthalmological syndrome with characteristics of postnatal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.
Id1172900005
StatusPrimitive
Clinical courseprogressief
Finding sitestructuur van visuele cortex
Has interpretationonder referentiebereik
Interpretshoofdomtrek
Finding sitestructuur van hoofd
Occurrencezuigelingenperiode
SNOMED CT to Orphanet simple map477814
SNOMED CT to ICD-10 extended map
TargetQ02
RuleTRUE
AdviceALWAYS Q02 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH47.6
RuleTRUE
AdviceALWAYS H47.6
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF89
RuleTRUE
AdviceALWAYS F89
CorrelationSNOMED CT source code to target map code correlation not specified