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microcefale primordiale dwerggroei Toriello-type (aandoening)
microcefale primordiale dwerggroei Toriello-type
Microcephalic primordial dwarfism Toriello type
Microcephalic primordial dwarfism of Toriello type
Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive.
Id715482004
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
CorrelationSNOMED CT source code to target map code correlation not specified