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syndroom van scleroserende botdysplasie, ichtyose en prematuur ovariumfalen (aandoening)
syndroom van scleroserende botdysplasie, ichtyose en prematuur ovariumfalen
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome
Osteosclerosis, ichthyosis, premature ovarian failure syndrome
This syndrome has characteristics of sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. It has been described in three adult sisters presenting with swelling of the limbs and occasional mild pain in the legs.
Id722114007
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
Interpretsbotdensitometrie
Has interpretationverlaagd
Interpretshormoonsecretie
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.4
RuleTRUE
AdviceALWAYS Q77.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ80.0
RuleTRUE
AdviceALWAYS Q80.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE28.3
RuleTRUE
AdviceALWAYS E28.3
CorrelationSNOMED CT source code to target map code correlation not specified