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leukotrieen C4-synthasedeficiëntie (aandoening)
leukotrieen C4-synthasedeficiëntie
deficiëntie van leukotrieen C4-synthase
Deficiency of leukotriene C4 synthase
Leukotriene C4 synthase deficiency
Hypotonia with failure to thrive and microcephaly syndrome
An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
Id717185008
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetE72.8
RuleTRUE
AdviceALWAYS E72.8
CorrelationSNOMED CT source code to target map code correlation not specified