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syndroom van multinodulair struma, cystenier en polydactylie (aandoening)
syndroom van multinodulair struma, cystenier en polydactylie
syndroom van Daneman-Davy-Mancer
Multinodular goiter, cystic kidney, polydactyly syndrome
Thyroid, renal, digital anomaly syndrome
Daneman Davy Mancer syndrome
A very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. It has been described in two siblings and one unrelated child. The two siblings had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families. This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance.
Id723409007
StatusPrimitive
Associated morphologyvergroting
Finding sitegehele schildklier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypolycysteuze verandering
Finding sitestructuur van nier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified