Camptodactyly taurinuria syndrome (disorder) | | 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. | | syndroom van camptodactylie en taurinurie | | congenitaal malformatiesyndroom van camptodactylie en taurinurie familiale streblodactylie en aminoacidurie
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| Id | 733466005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | Target | Q68.1 | Rule | TRUE | Advice | ALWAYS Q68.1 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | E72.9 | Rule | TRUE | Advice | ALWAYS E72.9 | Correlation | SNOMED CT source code to target map code correlation not specified |
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