C4302815_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	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.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C4302815>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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