JSON

chromosomal anomaly

Go to external page http://purl.obolibrary.org/obo/MONDO_0019040

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D025063
  • ICD9:758.89
  • Orphanet:68335
  • NCIT:C34470
  • DOID:0080014
  • SCTID:409709004
Subsets

ordo_group_of_disorders

closeMatch

http://linkedlifedata.com/resource/umls/id/C0008626

definition

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)

exactMatch

http://www.orpha.net/ORDO/Orphanet_68335

http://linkedlifedata.com/resource/umls/id/C0008625

http://identifiers.org/mesh/D002869

http://identifiers.org/mesh/D025063

http://identifiers.org/snomedct/409709004

http://purl.obolibrary.org/obo/NCIT_C34470

has exact synonym

chromosomal anomaly

chromosomal disease

has related synonym

disorder, chromosome

disorders, chromosome

disorders, chromosomal

chromosomal disorder

disorder, chromosome Abnormality

chromosome disorder, autosomal

chromosome Abnormality disorder

chromosomal disorders

disorder, chromosomal

autosomal chromosome disorders

chromosome disorder

chromosome Abnormality disorders

autosomal chromosome disorder

chromosome disorders, autosomal

id

MONDO:0019040

imported from

http://purl.obolibrary.org/obo/mondo.owl

oboInOwl:hasExactSynonym

Chromosomal Abnormality

seeAlso

http://www.case.edu/EpSO.owl#ChromosomalAbnormality

https://www.epilepsydiagnosis.org/aetiology/chromosomal-abnormalities-overview.html

Term relations

Subclass of: