C5190809_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C5190809>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

Metadata

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Anon_0

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