Mondo Disease Ontology - chromosomal disorder - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0019040 http://purl.obolibrary.org/obo/MONDO_0019040
Preferred Name	chromosomal disorder
Definitions	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)
Synonyms	chromosome abnormality disorders chromosome disorders, autosomal disorder, chromosome abnormality chromosome disorder, autosomal chromosome abnormality disorder autosomal chromosome disorder autosomal chromosome disorders disorders, chromosome chromosomal disorder chromosome disorder disorders, chromosomal disorder, chromosomal disorder, chromosome chromosomal disease chromosomal disorders See more See less
Type	http://www.w3.org/2002/07/owl#Class

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)
label	chromosomal disorder
prefLabel	chromosomal disorder
database_cross_reference	UMLS:C0008626 MESH:D025063 DOID:0080014 Orphanet:68335 NANDO:1100014 ICD9:758.89 NCIT:C34470 ICD10CM:Q90-Q99 SCTID:409709004 MEDGEN:3441 NANDO:2100279 NANDO:2100280 See more See less
notation	MONDO:0019040
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#harrisons_view http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-simple#rare_grouping
has_related_synonym	chromosome abnormality disorders chromosome disorders, autosomal disorder, chromosome abnormality chromosome disorder, autosomal chromosome abnormality disorder autosomal chromosome disorder autosomal chromosome disorders See more See less
id	MONDO:0019040
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/MONDO_0003847
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C0008626 http://identifiers.org/snomedct/409709004 http://purl.bioontology.org/ontology/ICD10CM/Q90-Q99 http://purl.obolibrary.org/obo/DOID_0080014 http://purl.obolibrary.org/obo/NCIT_C34470 http://identifiers.org/medgen/3441 http://identifiers.org/mesh/D025063 http://purl.obolibrary.org/obo/Orphanet_68335 See more See less
subClassOf	http://purl.obolibrary.org/obo/MONDO_0700096
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	disorders, chromosome chromosomal disorder chromosome disorder disorders, chromosomal disorder, chromosomal disorder, chromosome chromosomal disease chromosomal disorders See more See less
treeView	http://purl.obolibrary.org/obo/MONDO_0700096

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