chromosome aberrations

Preferred Label : chromosome aberrations;

MeSH definition : Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.;

MeSH synonym : aberration, chromosomal; abnormalities, cytogenetic; abnormalities, chromosomal; chromosome abnormality; aberrations, cytogenetic; chromosomal aberration; abnormalities, chromosome; aberrations, chromosome; chromosome aberration; cytogenetic aberration; cytogenetic abnormality; cytogenetic aberrations; aberrations, chromosomal; abnormality, chromosomal; cytogenetic abnormalities; abnormality, cytogenetic; abnormality, chromosome; chromosomal abnormalities; chromosomal abnormality; aberration, chromosome; chromosome abnormalities; chromosomal aberrations; aberration, cytogenetic;

MeSH hyponym : autosome abnormalities; Abnormality, Autosome; Autosome Abnormality; Abnormalities, Autosome;

MeSH annotation : coordinate IM with specific numbered chromosome or sex chromosome (IM) but not with CHROMOSOMES, HUMAN;

Wikipedia link : https://en.wikipedia.org/wiki/Chromosome abnormality;

Details

Origin ID

D002869;

UMLS CUI

C0008625;

A pour morphologie d'après SNOMED CT
- congenital abnormalities [MeSH Descriptor]
Allowable qualifiers
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- drug effects [MeSH Qualifier]
- embryology [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
- statistics and numerical data [MeSH Qualifier]
- veterinary [MeSH Qualifier]
Currated CISMeF NLP mapping
- CHROMOSOME ABNORMALITY [WHO-ART Included Term]
- CHROMOSOME DISORDER [WHO-ART High Level Term]
- Chromosomal aberration [PASCAL descriptor]
- Chromosomal abnormality NOS [MedDRA LLT]
- Chromosomal abnormality, unspecified [ICD-10 Sub-category (who)]
- Chromosomal abnormality, unspecified [ICD-10 Sub-category]
- Chromosomal anomalies [MedDRA LLT]
- Chromosomal disorder (disorder) [SNOMED CT concept]
- Chromosome Disorder [NCIt concept]
- Chromosome abnormality [MedDRA LLT]
- Chromosome disorder [MedDRA LLT]
- Conditions due to anomaly of unspecified chromosome [ICD-9 code]
- Congenital disorder due to abnormality of chromosome number OR structure (disorder) [SNOMED CT concept]
- Congenital glaucoma associated with chromosomal abnormalities [ICD-11 More detail]
- Cytogenetic Abnormality [NCIt concept]
- Cytogenetic abnormality [MedDRA Preferred Term]
- Rare chromosomal anomaly [ORDO Disease]
- chromosomal disease, nos [TUV Term]
- chromosomal disease, nos [SNOMED Notion]
- chromosome aberration [Disease (Nov.)]
- chromosome disorder [Disease (Nov.)]
Manual BTNT mappings - CISMeF
- Mosaic variegated aneuploidy syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Rare developmental defect during embryogenesis [ORDO Disease]
MeSH Descriptor(s) used for indexing
- chromosomes [MeSH Descriptor]
ORDO relation(s)
- Rare chromosomal anomaly [ORDO Disease]
Record concept(s)
- autosome abnormalities [MeSH concept]
- chromosome aberrations [MeSH concept]
Related MeSH Supplementary Concept(s)
- duplication 15q11-q13 syndrome [MeSH Supplementary Concept]
- edinburgh malformation syndrome [MeSH Supplementary Concept]
SNOMED CT : localisation
- chromosome structures [MeSH Descriptor]
See also
- chromosome disorders [MeSH Descriptor]
- cytogenetic analysis [MeSH Descriptor]
- cytogenetics [MeSH Descriptor]
- genetics, medical [MeSH Descriptor]
See also (suggested by CISMeF)
- chromosome painting [MeSH Descriptor]
- chromosomes [MeSH Descriptor]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Cytogenetic Abnormality [NCIt concept]
- chromosomal disease, nos [TUV Term]

Keyword's position in hierarchy(ies) :

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