C1867020_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	Syndrome with characteristics of the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent hypoplastic ears with almost absent pinna and bilateral amastia. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C1867020>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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