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syndroom van ziekte van Hirschsprung, doofheid en polydactylie (aandoening)
syndroom van ziekte van Hirschsprung, doofheid en polydactylie
syndroom van Santos-Mateus-Leal
Hirschsprung disease with deafness and polydactyly syndrome
Santos Mateus Leal syndrome
An extremely rare malformative association, described in only two siblings to date with characteristics of Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.
Id721221000
StatusPrimitive
Associated morphologyhypertrofie
Finding sitestructuur van colon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydilatatie
Finding sitestructuur van colon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ43.1
RuleTRUE
AdviceALWAYS Q43.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ69.9
RuleTRUE
AdviceALWAYS Q69.9
CorrelationSNOMED CT source code to target map code correlation not specified