Preferred Name |
Cytogenetic Abnormality |
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2950 |
code |
C2950 |
Concept_In_Subset | |
Contributing_Source |
NICHD |
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. |
FULL_SYN |
Chromosome Abnormality Chromosome Aberration Chromosome Anomalies Aberrant Chromosome Cytogenetic Aberration Chromosomal Abnormality Chromosome Alterations Chromosomal Alterations Chromosomal Aberration Chromosomal Abnormalities |
Has_NICHD_Parent | |
label |
Cytogenetic Abnormality |
Legacy_Concept_Name |
Chromosomal_Aberration |
NICHD_Hierarchy_Term |
Chromosomal Abnormality |
Preferred_Name |
Cytogenetic Abnormality |
prefixIRI |
C2950 |
prefLabel |
Cytogenetic Abnormality |
Semantic_Type |
Cell or Molecular Dysfunction |
UMLS_CUI |
C0008625 |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
There are currently no mappings for this class. |