JSON

chromosomal disorder

^ http://purl.obolibrary.org/obo/MONDO_0019040

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) [ MESH:D025063 ]

Term info

database cross reference
  • MESH:D025063 (MONDO:equivalentTo)
  • ICD9:758.89 (MONDO:relatedTo)
  • NCIT:C34470 (MONDO:equivalentTo)
  • SCTID:409709004 (MONDO:equivalentTo)
  • ICD10CM:Q90-Q99 (https://orcid.org/0000-0002-4142-7153)
  • Orphanet:68335 (MONDO:equivalentTo)
  • DOID:0080014 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

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://purl.obolibrary.org/obo/Orphanet_68335, http://purl.obolibrary.org/obo/DOID_0080014, http://identifiers.org/mesh/D025063, http://purl.bioontology.org/ontology/ICD10CM/Q90-Q99, http://identifiers.org/snomedct/409709004, http://purl.obolibrary.org/obo/NCIT_C34470

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019755, http://purl.obolibrary.org/obo/MONDO_0003847

has exact synonym

disorder, chromosome, chromosomal disorders, disorder, chromosomal, disorders, chromosome, chromosome disorder, disorders, chromosomal, chromosomal disease, chromosomal disorder

has related synonym

chromosome abnormality disorder, autosomal chromosome disorders, chromosome abnormality disorders, autosomal chromosome disorder, chromosome disorder, autosomal, disorder, chromosome abnormality, chromosome disorders, autosomal

id

MONDO:0019040

Term relations