C2931720_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	Rare disorder with features of multiple craniofacial anomalies; brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes. The syndrome is inherited in an autosomal recessive manner.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C2931720>
?: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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