JSON

chromosomal disorder

Go to external page 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 ]

Synonyms: disorder, chromosome chromosomal disorders disorder, chromosomal disorders, chromosome chromosome disorder disorders, chromosomal chromosomal disease chromosomal disorder

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:68335 (MONDO:equivalentTo)
  • GARD:18874 (Orphanet:68335)
  • MESH:D025063 (MONDO:equivalentTo)
  • SCTID:409709004 (MONDO:equivalentTo)
  • ICD10CM:Q90-Q99 (https://orcid.org/0000-0002-4142-7153)
  • ICD9:758.89 (MONDO:relatedTo)
  • NCIT:C34470 (MONDO:equivalentTo)
  • DOID:0080014 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, rare_grouping, ordo_group_of_disorders

exactMatch

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

http://purl.obolibrary.org/obo/DOID_0080014

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

http://identifiers.org/snomedct/409709004

http://identifiers.org/mesh/D025063

http://purl.bioontology.org/ontology/ICD10CM/Q90-Q99

excluded subClassOf

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

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

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

Subclass of: