Terminology Service for NFDI4Health
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) [ http://id.nlm.nih.gov/mesh/D025063 ]

Term info

Label

chromosomal disorder

Synonyms
  • chromosomal disease
  • chromosomal disorder
  • chromosomal disorders
  • chromosome disorder
  • disorder, chromosomal
  • disorder, chromosome
  • disorders, chromosomal
  • disorders, chromosome
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

exactMatch

https://icd.codes/icd10cm/Q90-Q99, http://purl.obolibrary.org/obo/Orphanet_68335, http://purl.obolibrary.org/obo/DOID_0080014, http://identifiers.org/mesh/D025063, http://identifiers.org/snomedct/409709004, http://purl.obolibrary.org/obo/NCIT_C34470

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