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syndroom van microftalmie en hersenatrofie (aandoening)
syndroom van microftalmie en hersenatrofie
Microphthalmia with brain atrophy syndrome
Syndromic microphthalmia type 10
Syndrome with characteristics of congenital microphthalmia and blindness, progressive spasticity, microcephaly, seizures and profound intellectual deficit. It has been reported in three children from three unrelated families. While imaging at birth is normal, follow-up studies show progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extend into the subcortical region, leaving only small islands of remaining cortical tissue.
Id720010009
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van weefsel van hersenen
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitegeheel oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8
CorrelationSNOMED CT source code to target map code correlation not specified