Cytogenetic Abnormality

Preferred Label : Cytogenetic Abnormality;

NCIt synonyms : Chromosomal Abnormality; Chromosome Anomalies; Chromosomal Alterations; Chromosome Aberration; Cytogenetic Aberration; Chromosome Alterations; Chromosomal Aberration; Aberrant Chromosome; Genomic Structural Variation;

NCIt related terms : Chromosome Abnormality; Cytogenetic Analysis Abnormality Type; Chromosomal Abnormalities;

NCIt definition : An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material.;

Details

Origin ID

C2950;

UMLS CUI

C0008625;

Automatic exact mappings (from CISMeF team)
- Abnormal chromosome [PASCAL descriptor]
- Abnormal chromosome A [PASCAL descriptor]
- Chromosomal anomalies [ICD-9 code]
- Chromosome aberrations [PASCAL theme]
- congenital chromosomal abnormality [Radlex concept]
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 abnormality [MedDRA LLT]
- 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 [MedDRA Preferred Term]
- Rare chromosomal anomaly [ORDO Disease]
- chromosomal disease, nos [SNOMED Notion]
- chromosome aberration [Disease (Nov.)]
- chromosome aberrations [MeSH Descriptor]
- chromosome aberrations [MeSH concept]
See also inter- (CISMeF)
- chromosome disorder [Disease (Nov.)]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- chromosomal disease, nos [TUV Term]
- chromosome aberrations [MeSH concept]
- chromosome aberrations [MeSH Descriptor]
concept_is_in_subset
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Causes of Death Codelist [NCIt concept]
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Medical Conditions Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
kind_is_domain_of
- Cytogenetic_Abnormality_Involves_Chromosome [NCIt concept]

Keyword's position in hierarchy(ies) :

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