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syndroom van camptodactylie en taurinurie (aandoening)
syndroom van camptodactylie en taurinurie
congenitaal malformatiesyndroom van camptodactylie en taurinurie
familiale streblodactylie en aminoacidurie
Camptodactyly taurinuria syndrome
Familial streblodactyly with amino-aciduria
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
Id733466005
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ68.1
RuleTRUE
AdviceALWAYS Q68.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE72.9
RuleTRUE
AdviceALWAYS E72.9
CorrelationSNOMED CT source code to target map code correlation not specified