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syndroom van ankyloserende vertebrale hyperostose en keratosis palmoplantaris (aandoening)
syndroom van ankyloserende vertebrale hyperostose en keratosis palmoplantaris
syndroom van ankyloserende vertebrale hyperostose en tylose
syndroom van ankyloserende vertebrale hyperostose en keratoderma palmoplantaris diffusa circumscripta
Ankylosing vertebral hyperostosis with tylosis syndrome
The association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. It has been described in at least eight patients, in four sibships spanning two generations of a Greek-Cypriot family. Six other members of the family presented with palmoplantar hyperkeratosis alone. This syndrome is likely to be transmitted as an autosomal dominant trait. It is distinct from diffuse idiopathic skeletal hyperostosis (DISH), which is not a rare disease.
Id720492008
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van wervel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperkeratose
Finding sitestructuur van huid van voetzool
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetM48.19
TermAnkyloserende hyperostose [Forestier] van lokalisatie niet gespecificeerd
TargetQ82.8
TermOverige gespecificeerde congenitale misvormingen van huid
SNOMED CT to Orphanet simple map2206
SNOMED CT to ICD-10 extended map
TargetM48.19
RuleTRUE
AdviceALWAYS M48.19
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified