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Agenesis of corpus callosum (CUI C0175754) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0175754

NCI Thesaurus Code: C98905  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

NCIt 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.

HPO Definition: Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. [HPO:curators]

MSH Definition: Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.

Synonyms & Abbreviations: (see Synonym Details)
Absence of corpus callosum
Absence of the corpus callosum
Absent corpus callosum
ACC - Agenesis of corpus callosum
ACC
Ageneses, Corpus Callosum
Agenesis corpus callosum
Agenesis of corpus callosum (disorder)
Agenesis of Corpus Callosum [Disease/Finding]
Agenesis of corpus callosum
Agenesis of the corpus callosum
Agenesis, Corpus Callosum
Callosal agenesis
Congenital absence of corpus callosum
Corpus Callosum Absences
Corpus Callosum Absence
Corpus Callosum Ageneses
Corpus callosum agenesis
Corpus Callosum Dysgeneses
Corpus Callosum Dysgenesis
Corpus Callosum Hypogeneses
Corpus Callosum Hypogenesis
Corpus Callosum, Agenesis Of
CORPUS CALLOSUM, AGENESIS
Dysgeneses, Corpus Callosum
Dysgenesis, Corpus Callosum
Dysplastic or absent corpus callosum
Hypogeneses, Corpus Callosum
Hypogenesis of corpus callosum
Hypogenesis, Corpus Callosum

External Source Codes: 
NCI Thesaurus Code C98905 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID P2280 SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DX 20120101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HN 2012; for Absence of Corpus Callosum use Acrocallosal Syndrome 2009-2011; for Agenesis of Corpus Callosum use Aicardi Syndrome 2011 MSH
MDA 20110627 MSH
MESH_DEFINITION Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity. NDFRT
MESH_DUI D061085 NDFRT
MESH_NAME Agenesis of Corpus Callosum NDFRT
MESH_UI M0519523 NDFRT
MIMTYPE 5 OMIM
MIMTYPEMEANING Mendelian phenotype or locus, molecular basis unknown. OMIM
MIMTYPEVALUE perc OMIM
MMR 20120703 MSH
MN C10.500.034 MSH
MN C16.131.666.034 MSH
MN C23.300.008 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Corpus Callosum Agenesis NCI
NUI N0000183381 NDFRT
PM 2012; for Absence of Corpus Callosum see Acrocallosal Syndrome 2009-2011; for Agenesis of Corpus Callosum see Aicardi Syndrome 2011 MSH
RXAUI 4222043 RXNORM
RXAUI 4222065 RXNORM
RXAUI 4222066 RXNORM
RXAUI 4222542 RXNORM
RXAUI 4222543 RXNORM
RXAUI 4222544 RXNORM
RXAUI 5039107 RXNORM
RXCUI 1255561 RXNORM
SID HP:0006800 HPO
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q04.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q04.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q04.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q04.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~P2280 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T716304 MSH
TERMUI T716305 MSH
TERMUI T766629 MSH
TERMUI T788461 MSH
TERMUI T788466 MSH
TERMUI T812085 MSH
TH NLM (2009) MSH
TH NLM (2011) MSH
TH NLM (2012) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0175754

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