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syndroom van microftalmie en hersenatrofie (aandoening)
syndroom van microftalmie en hersenatrofie
Microphthalmia with brain atrophy syndrome
Syndromic microphthalmia type 10
MOBA syndrome
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.
Id720010009
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van encephalon
Associated morphologyafwijkend klein
Finding sitegehele bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationverhoogd
Interpretsspiertonus
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ11.2
TermMicroftalmie
TargetG31.8
TermOverige gespecificeerde degeneratieve ziekten van zenuwstelsel
SNOMED CT to Orphanet simple map77299
SNOMED CT to ICD-10 extended map
TargetQ11.2
RuleTRUE
AdviceALWAYS Q11.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified