SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Agenesis of corpus callosum

Synonyms

Agenesis of corpus callosum (disorder)

Absent corpus callosum

ID

http://purl.bioontology.org/ontology/SNOMEDCT/5102002

Active

1

altLabel

Agenesis of corpus callosum (disorder)

Congenital absence of corpus callosum

ACC - Agenesis of corpus callosum

Absent corpus callosum

CASE SIGNIFICANCE ID

900000000000448009

900000000000017005

CTV3ID

P2280

cui

C0175754

DEFINITION STATUS ID

900000000000073002

Effective time

20020131

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/782173000

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/362354006

Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002

notation

5102002

Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007

prefLabel

Agenesis of corpus callosum

Subset member

6011000124106~MAPRULE~IFA 770604006 | X-linked cerebral, cerebellar, coloboma syndrome |

447562003~MAPRULE~TRUE

6011000124106~MAPADVICE~IF X-LINKED CEREBRAL, CEREBELLAR, COLOBOMA SYNDROME CHOOSE Q04.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~ALWAYS Q04.0 | DESCENDANTS NOT EXHAUSTIVELY MAPPED

6011000124106~MAPTARGET~M26.09

6011000124106~MAPRULE~IFA 720819006 | Curry Jones syndrome (disorder) |

6011000124106~MAPPRIORITY~7

6011000124106~MAPPRIORITY~4

6011000124106~MAPADVICE~IF X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA SYNDROME AND IF MALE CHOOSE Q55.9 | MAP IS CONTEXT DEPENDENT FOR GENDER

6011000124106~MAPRULE~IFA 715951007 | Acrocallosal syndrome |

6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

447562003~MAPADVICE~ALWAYS Q04.0

6011000124106~MAPTARGET~Q87.0

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

6011000124106~MAPRULE~IFA 717632002 | X-linked lissencephaly with abnormal genitalia syndrome | AND IFA 248152002 | Female (finding) |

6011000124106~MAPADVICE~IF AICARDI'S SYNDROME CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~10

6011000124106~MAPTARGET~Q52.9

6011000124106~MAPPRIORITY~8

6011000124106~MAPADVICE~IF MICROCEPHALY, POLYMICROGYRIA, CORPUS CALLOSUM AGENESIS SYNDROME CHOOSE Q04.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF ACROCALLOSAL SYNDROME CHOOSE Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000549004

6011000124106~MAPRULE~IFA 719824001 | Vici syndrome |

6011000124106~MAPADVICE~ALWAYS Q04.0

6011000124106~MAPTARGET~Q87.2

6011000124106~MAPRULE~IFA 717632002 | X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) |

447562003~MAPGROUP~1

6011000124106~MAPTARGET~F79

6011000124106~MAPRULE~IFA 722282008 | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) |

6011000124106~MAPTARGET~Q13.0

6011000124106~MAPTARGET~Q87.89

6011000124106~MAPRULE~IFA 717632002 | X-linked lissencephaly with abnormal genitalia syndrome |

447562003~CORRELATIONID~447561005

6011000124106~MAPTARGET~Q04.0

6011000124106~MAPADVICE~IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA SYNDROME CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPCATEGORYID~447637006

6011000124106~MAPTARGET~G80.0

6011000124106~MAPADVICE~IF X-LINKED LISSENCEPHALY WITH AGENESIS OF CORPUS CALLOSUM AND GENITAL ANOMALY SYNDROME CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPRULE~IFA 717632002 | X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) | AND IFA 248152002 | Female (finding) |

6011000124106~MAPADVICE~IF INFANTILE OSTEOPETROSIS WITH NEUROAXONAL DYSPLASIA SYNDROME CHOOSE Q78.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 719824001 | Vici syndrome (disorder) |

6011000124106~MAPRULE~IFA 763797003 | Agenesis of corpus callosum and abnormal genitalia syndrome | AND IFA 248153007 | Male (finding) |

6011000124106~MAPADVICE~IF X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA SYNDROME CHOOSE Q04.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q04.3

6011000124106~MAPRULE~IFA 724226009 | Infantile osteopetrosis with neuroaxonal dysplasia syndrome |

6011000124106~MAPADVICE~IF ACROCALLOSAL SYNDROME CHOOSE Q74.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 717632002 | X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) | AND IFA 248153007 | Male (finding) |

6011000124106~MAPADVICE~IF ACROCALLOSAL SYNDROME CHOOSE Q04.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPTARGET~Q04.0

6011000124106~MAPADVICE~IF X-LINKED INTELLECTUAL DISABILITY WITH CORPUS CALLOSUM AGENESIS AND SPASTIC QUADRIPARESIS SYNDROME CHOOSE Q04.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q55.9

6011000124106~MAPADVICE~IF X-LINKED CEREBRAL, CEREBELLAR, COLOBOMA SYNDROME CHOOSE Q13.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA SYNDROME AND IF FEMALE CHOOSE Q52.9 | MAP IS CONTEXT DEPENDENT FOR GENDER

447562003~MAPPRIORITY~1

6011000124106~MAPADVICE~IF X-LINKED INTELLECTUAL DISABILITY WITH CORPUS CALLOSUM AGENESIS AND SPASTIC QUADRIPARESIS SYNDROME CHOOSE F78 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q04.9

447562003~MAPCATEGORYID~447637006

6011000124106~MAPADVICE~IF MICROCEPHALY, POLYMICROGYRIA, CORPUS CALLOSUM AGENESIS SYNDROME CHOOSE Q02 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF INFANTILE OSTEOPETROSIS WITH NEUROAXONAL DYSPLASIA SYNDROME CHOOSE Q04.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF CURRY JONES SYNDROME CHOOSE Q87.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPPRIORITY~5

6011000124106~MAPTARGET~F78

6011000124106~MAPGROUP~4

6011000124106~MAPPRIORITY~9

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPADVICE~IF MICROCEPHALY, POLYMICROGYRIA, CORPUS CALLOSUM AGENESIS SYNDROME CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~1

6011000124106~MAPPRIORITY~6

6011000124106~CORRELATIONID~447561005

6011000124106~MAPADVICE~IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE M26.09 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 80651009 | Aicardi's syndrome (disorder) |

6011000124106~MAPADVICE~IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE Q13.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 715951007 | Acrocallosal syndrome (disorder) |

6011000124106~MAPTARGET~Q78.2

6011000124106~MAPTARGET~Q02

6011000124106~MAPADVICE~IF VICI SYNDROME CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q74.8

6011000124106~MAPRULE~IFA 773305003 | Microcephaly, polymicrogyria, corpus callosum agenesis syndrome |

6011000124106~MAPRULE~TRUE

6011000124106~MAPADVICE~IF X-LINKED INTELLECTUAL DISABILITY WITH CORPUS CALLOSUM AGENESIS AND SPASTIC QUADRIPARESIS SYNDROME CHOOSE G80.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 719947004 | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) |

6011000124106~MAPGROUP~3

6011000124106~MAPRULE~IFA 717632002 | X-linked lissencephaly with abnormal genitalia syndrome | AND IFA 248153007 | Male (finding) |

6011000124106~MAPADVICE~IF X-LINKED LISSENCEPHALY WITH AGENESIS OF CORPUS CALLOSUM AND GENITAL ANOMALY SYNDROME AND IF MALE CHOOSE Q55.9 | MAP IS CONTEXT DEPENDENT FOR GENDER

6011000124106~MAPADVICE~IF CRANIOFACIAL DYSMORPHISM WITH COLOBOMA OF EYE AND CORPUS CALLOSUM AGENESIS SYNDROME CHOOSE Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000497000~MAPTARGET~P2280

6011000124106~MAPPRIORITY~3

6011000124106~MAPRULE~IFA 763797003 | Agenesis of corpus callosum and abnormal genitalia syndrome |

6011000124106~MAPADVICE~IF X-LINKED LISSENCEPHALY WITH AGENESIS OF CORPUS CALLOSUM AND GENITAL ANOMALY SYNDROME CHOOSE Q04.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF CRANIOFACIAL DYSMORPHISM WITH COLOBOMA OF EYE AND CORPUS CALLOSUM AGENESIS SYNDROME CHOOSE Q04.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPRULE~IFA 719137001 | X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) |

6011000124106~MAPADVICE~IF X-LINKED LISSENCEPHALY WITH AGENESIS OF CORPUS CALLOSUM AND GENITAL ANOMALY SYNDROME AND IF FEMALE CHOOSE Q52.9 | MAP IS CONTEXT DEPENDENT FOR GENDER

6011000124106~MAPPRIORITY~2

6011000124106~MAPADVICE~IF AGENESIS OF CORPUS CALLOSUM AND ABNORMAL GENITALIA SYNDROME AND IF FEMALE CHOOSE Q52.9 | MAP IS CONTEXT DEPENDENT FOR GENDER

6011000124106~MAPADVICE~IF AGENESIS OF CORPUS CALLOSUM AND ABNORMAL GENITALIA SYNDROME AND IF MALE CHOOSE Q55.9 | MAP IS CONTEXT DEPENDENT FOR GENDER

6011000124106~MAPADVICE~IF CRANIOFACIAL DYSMORPHISM WITH COLOBOMA OF EYE AND CORPUS CALLOSUM AGENESIS SYNDROME CHOOSE Q13.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 763797003 | Agenesis of corpus callosum and abnormal genitalia syndrome | AND IFA 248152002 | Female (finding) |

6011000124106~MAPRULE~IFA 722282008 | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |

tui

T019

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/204044008

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/NDFRT/N0000183381 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/MTHU000061 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/217990 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU051057 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU031863 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10063756 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU022910 OMIM CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.0 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU076559 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012138 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU007063 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/5102002 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-91110 SNMI CUI
http://purl.bioontology.org/ontology/RCD/P2280 RCD CUI
http://purl.bioontology.org/ontology/OMIM/MTHU004110 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU001604 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D061085 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D061085 MESH CUI
http://purl.bioontology.org/ontology/OMIM/MTHU068747 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10063756 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10063756 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU005338 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/5102002 NLMVS SAME_URI
http://purl.obolibrary.org/obo/HP_0001274 HP LOOM
http://purl.obolibrary.org/obo/HP_0001274 HP LOOM
http://purl.obolibrary.org/obo/HP_0001274 EFO LOOM
http://purl.obolibrary.org/obo/HP_0001274 DOID LOOM
http://purl.obolibrary.org/obo/HP_0001274 OBA LOOM
http://purl.jp/bio/4/id/200906017071637600 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.034 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.300.008 RH-MESH LOOM
http://www.limics.fr/ontologies/ontolurgences#AgenesieDuCorpsCalleux ONTOLURGENCES LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036529 PMAPP-PMO LOOM
http://purl.org/obo/owl/HP#HP_0001274 BDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-91110 SNMI LOOM
http://purl.bioontology.org/ontology/RCD/P2280 RCD LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Agenesis_of_Corpus_Callosum PEDTERM LOOM
http://purl.obolibrary.org/obo/OMIT_0027889 OMIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU004110 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175754 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.034 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D061085 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D061085 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0001274 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0001274 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0001274 NIFSTD LOOM
http://purl.obolibrary.org/obo/SCDO_0000032 SCDO LOOM
http://www.gamuts.net/entity#agenesis_of_corpus_callosum GAMUTS LOOM
http://www.gamuts.net/entity#agenesis_of_corpus_callosum GAMUTS REST
http://www.gamuts.net/entity#absent_corpus_callosum GAMUTS REST