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 chromosomal disease disorders, chromosomal chromosomal disorder
Term information
- ICD10CM:Q90-Q99 (https://orcid.org/0000-0002-4142-7153)
- SCTID:409709004 (MONDO:equivalentTo)
- NANDO:2100280 (https://orcid.org/0000-0003-0011-764X)
- DOID:0080014 (MONDO:equivalentTo)
- MEDGEN:3441 (MONDO:equivalentTo)
- Orphanet:68335 (MONDO:equivalentTo)
- NANDO:2100279 (https://orcid.org/0000-0003-0011-764X)
- NCIT:C34470 (MONDO:equivalentTo)
- ICD9:758.89 (MONDO:relatedTo)
- NANDO:1100014 (https://orcid.org/0000-0003-0011-764X)
- MESH:D025063 (MONDO:equivalentTo)
- UMLS:C0008626 (MONDO:equivalentTo)
otar, disease_grouping, rare_grouping, ordo_group_of_disorders
http://www.orpha.net/ORDO/Orphanet_68335
http://linkedlifedata.com/resource/umls/id/C0008626
http://identifiers.org/medgen/3441
http://purl.obolibrary.org/obo/DOID_0080014
http://identifiers.org/mesh/D025063
http://identifiers.org/snomedct/409709004
http://purl.obolibrary.org/obo/NCIT_C34470
http://purl.bioontology.org/ontology/ICD10CM/Q90-Q99
http://purl.obolibrary.org/obo/MONDO_0019755
http://purl.obolibrary.org/obo/MONDO_0003847
chromosome abnormality disorder
autosomal chromosome disorders
chromosome abnormality disorders
autosomal chromosome disorder
chromosome disorder, autosomal
chromosome disorders, autosomal
disorder, chromosome abnormality