Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Malformations of Cortical Development
Synonyms	Generalized Cortical Dysplasias Cortical Dysplasia, Cerebral
Definitions	Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.
ID	http://purl.bioontology.org/ontology/MESH/D054220
altLabel	Generalized Cortical Dysplasias Dysplasia, Cortical Cortical Dysplasia Malformations of Cerebral Cortex Development Cerebral Cortical Dysplasias Cortical Dysplasia, Generalized Dysplasia, Cerebral Cortical Dysplasia, Generalized Cortical Cortical Development Malformations Cortical Development Malformation Cerebral Cortical Dysplasia Generalized Cortical Dysplasia Cortical Dysplasias Development Malformation, Cortical Cortical Dysplasia, Cerebral
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0431380 C1955869 C5691433
DC	1
definition	Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.
DX	20080101
HN	2008
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	2008
Mapped from	http://purl.bioontology.org/ontology/MESH/C564264 http://purl.bioontology.org/ontology/MESH/C564652 http://purl.bioontology.org/ontology/MESH/C567201 http://purl.bioontology.org/ontology/MESH/C567715 http://purl.bioontology.org/ontology/MESH/C538514 http://purl.bioontology.org/ontology/MESH/C536658 http://purl.bioontology.org/ontology/MESH/C567657 http://purl.bioontology.org/ontology/MESH/C567658 http://purl.bioontology.org/ontology/MESH/C564583 http://purl.bioontology.org/ontology/MESH/C536243 http://purl.bioontology.org/ontology/MESH/C536701 http://purl.bioontology.org/ontology/MESH/C566381 http://purl.bioontology.org/ontology/MESH/C537370
MDA	20070709
MMR	20211018
MN	C10.500.507 C16.131.666.507
notation	D054220
prefLabel	Malformations of Cortical Development
TERMUI	T001110872 T685801 T683952 T683951 T685802 T685800
TH	NLM (2023) NLM (2008)
tui	T047 T019
subClassOf	http://purl.bioontology.org/ontology/MESH/D009421

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10070666	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D054220	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D054220	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU000697	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU067788	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10070666	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10070666	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/253153000	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X77r9	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253153000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181257	NDFRT	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU043840	OMIM	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.507	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036535	PMAPP-PMO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84834	NCIT	LOOM
http://purl.obolibrary.org/obo/OMIT_0025699	OMIT	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Malformations_of_Cortical_Development	ESSO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Malformations_of_Cortical_Development	MEPO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Malformations_of_Cortical_Development	CSEO	LOOM
http://purl.jp/bio/4/id/200906011754775937	IOBC	LOOM
http://purl.obolibrary.org/obo/NCIT_C84834	EPIO	LOOM
http://purl.obolibrary.org/obo/NCIT_C84834	BERO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU043840	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054220	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.507	RH-MESH	LOOM