Digital medicine Outcomes Value Set (DOVeS) Ontology - corpus callosum, agenesis of - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	corpus callosum, agenesis of
Synonyms	ACC agenesis of the corpus callosum isolated corpus callosum agenesis agenesis of corpus callosum corpus callosum agenesis corpus callosum, agenesis of
Definitions	A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.
ID	http://purl.obolibrary.org/obo/MONDO_0009022
altLabel	ACC agenesis of the corpus callosum isolated corpus callosum agenesis agenesis of corpus callosum corpus callosum agenesis corpus callosum, agenesis of
definition	A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.
has_exact_synonym	agenesis of corpus callosum corpus callosum agenesis corpus callosum, agenesis of
has_related_synonym	ACC agenesis of the corpus callosum isolated corpus callosum agenesis
label	corpus callosum, agenesis of
prefixIRI	MONDO:0009022
prefLabel	corpus callosum, agenesis of
textual definition	A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0003847 http://purl.obolibrary.org/obo/MONDO_0002320

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0009022	MONDO	SAME_URI
	http://purl.bioontology.org/ontology/OMIM/217990	OMIM	LOOM
	http://purl.obolibrary.org/obo/MONDO_0009022	MONDO	LOOM
	http://purl.bioontology.org/ontology/OMIM/MTHU068747	OMIM	LOOM