loading...| Preferred Name |
chromosomal disorder |
|
| Synonyms |
disorders, chromosome chromosomal disorder chromosome disorder disorders, chromosomal disorder, chromosomal disorder, chromosome chromosomal disease chromosomal disorders chromosome abnormality disorders chromosome disorders, autosomal disorder, chromosome abnormality chromosome disorder, autosomal chromosome abnormality disorder autosomal chromosome disorder autosomal chromosome disorders |
|
| 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) |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019040 |
|
| database_cross_reference |
MESH:D025063 DOID:0080014 Orphanet:68335 ICD9:758.89 NCIT:C34470 ICD10CM:Q90-Q99 SCTID:409709004 GARD:18874 |
|
| 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://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 |
|
| has_exact_synonym |
disorders, chromosome chromosomal disorder chromosome disorder disorders, chromosomal disorder, chromosomal disorder, chromosome chromosomal disease chromosomal disorders |
|
| has_related_synonym |
chromosome abnormality disorders chromosome disorders, autosomal disorder, chromosome abnormality chromosome disorder, autosomal chromosome abnormality disorder autosomal chromosome disorder autosomal chromosome disorders |
|
| id |
MONDO:0019040 |
|
| in taxon | ||
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#rare_grouping http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
chromosomal disorder |
|
| notation |
MONDO:0019040 |
|
| prefLabel |
chromosomal disorder |
|
| excluded_subClassOf | ||
| subClassOf |