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syndroom van hypoplasie van ulna en gespleten voet (aandoening)
syndroom van hypoplasie van ulna en gespleten voet
Congenital hypoplasia of ulna and split foot syndrome
Van den Berghe Dequecker syndrome
Ulnar hypoplasia lobster-claw deformity of feet syndrome
Syndrome with the association of severe ulnar hypoplasia, absence of fingers two to five and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.
Id733030003
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitebotstructuur van ulna
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ71.8
TermOverige gespecificeerde onderontwikkeling van bovenste extremiteit(en)
TargetQ72.7
TermGespleten voet
SNOMED CT to Orphanet simple map1122
SNOMED CT to ICD-10 extended map
TargetQ71.8
RuleTRUE
AdviceALWAYS Q71.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ72.7
RuleTRUE
AdviceALWAYS Q72.7
CorrelationSNOMED CT source code to target map code correlation not specified