loading...| Preferred Name |
chromosomal anomaly |
|
| Synonyms |
Chromosomal Abnormality chromosomal disease chromosomal anomaly chromosomal disorder chromosomal disorders disorders, chromosome disorders, chromosomal autosomal chromosome disorder disorder, chromosome Abnormality chromosome disorder, autosomal disorder, chromosomal chromosome Abnormality disorders chromosome disorders, autosomal chromosome disorder autosomal chromosome disorders chromosome Abnormality disorder disorder, chromosome |
|
| Definitions |
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019040 |
|
| closeMatch | ||
| database_cross_reference |
ICD9:758.89 Orphanet:68335 MESH:D025063 SCTID:409709004 NCIT:C34470 DOID:0080014 |
|
| exactMatch |
http://identifiers.org/mesh/D002869 http://linkedlifedata.com/resource/umls/id/C0008625 http://identifiers.org/snomedct/409709004 http://www.orpha.net/ORDO/Orphanet_68335 |
|
| fromEpSO | ||
| fromILAE |
true |
|
| has exact synonym |
Chromosomal Abnormality chromosomal disease chromosomal anomaly |
|
| id |
MONDO:0019040 |
|
| imported from | ||
| in subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
chromosomal anomaly |
|
| notation |
MONDO:0019040 |
|
| oboInOwl:hasRelatedSynonym |
chromosomal disorder chromosomal disorders disorders, chromosome disorders, chromosomal autosomal chromosome disorder disorder, chromosome Abnormality chromosome disorder, autosomal disorder, chromosomal chromosome Abnormality disorders chromosome disorders, autosomal chromosome disorder autosomal chromosome disorders chromosome Abnormality disorder disorder, chromosome |
|
| prefLabel |
chromosomal anomaly |
|
| see also |
https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html |
|
| 文本定义 |
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) |
|
| subClassOf |
https://bio.scai.fraunhofer.de/ontology/epilepsy#genetic_etiology |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019040 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019040 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019040 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019040 | KTAO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_68335 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019040 | KTAO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_10474 | HRDO | LOOM |