camptodactylie van digitus van hand, exclusief digitus I	hereditaire aminoacidurie	hereditaire camptodactylie	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
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syndroom van camptodactylie en taurinurie (aandoening)
	syndroom van camptodactylie en taurinurie
	familiale streblodactylie en aminoacidurie congenitaal malformatiesyndroom van camptodactylie en taurinurie
	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.

Id	733466005
Status	Primitive

Associated morphology	gefixeerde flexiedeformiteit
Finding site	structuur van bewegingsapparaat van digitus van hand, exclusief digitus I
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q68.1
Term	Congenitale misvorming van hand

Target	E72.9
Term	Stofwisselingsstoornis van aminozuren, niet gespecificeerd

SNOMED CT to Orphanet simple map

1325

SNOMED CT to ICD-10 extended map

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