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primordiale dwerggroei met microcefalie door deficiëntie van 'zinc finger protein'-335 (aandoening)
primordiale dwerggroei met microcefalie door deficiëntie van 'zinc finger protein'-335
primordiale dwerggroei met microcefalie door ZNF335-deficiëntie
primordiale dwerggroei met microcefalie door zinkvingereiwit-335-deficiëntie
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency
Microcephalic primordial dwarfism Walsh type
Syndrome that has characteristics of severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. There is evidence this syndrome is caused by homozygous mutation in the ZNF335 gene on chromosome 20q13.
Id724141003
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified