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'muscle-eye-brain disease' met bilaterale multicysteuze leukodystrofie (aandoening)
'muscle-eye-brain disease' met bilaterale multicysteuze leukodystrofie
MEB-ziekte met bilaterale multicysteuze leukodystrofie
Muscle eye brain disease with bilateral multicystic leukodystrophy
Muscle eye brain disease with bilateral multicystic leucodystrophy
A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21.
Id785298001
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified