Chromosomal Rearrangement

Preferred Label : Chromosomal Rearrangement;

NCIt synonyms : Structural Chromosome Anomalies; Structural Chromosomal Abnormality; Structural Chromosome Aberration; Chromosomal Rearrangements;

NCIt related terms : Rearrangement; Rearrangement NOS;

NCIt definition : Any change in the structure of one or more chromosomes.;

Alternative definition : PCDC: Any process affecting a DNA sequence that results in the gain, loss or exchange of DNA between chromosomes and/or autonomous replicons.;

Details

Origin ID

C36541;

UMLS CUI

C1515001;

Automatic exact mappings (from CISMeF team)
- Chromosome rearrangement [LOINC component]
- Rearrangements [LOINC Class]
- rearrangement [IUPAC Term]
CISMeF manual mappings
- Chromosomal rearrangement databases [OMIConto structure]
- Chromosomal rearrangement databases [OMIConto index]
Currated CISMeF NLP mapping
- structural chromosome aberration [Disease (Nov.)]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosomal rearrangement databases [OMIConto index]
- Chromosomal rearrangement databases [OMIConto structure]
- structural chromosome aberration [Disease (Nov.)]
concept_is_in_subset
- AML Authorized Value Terminology [NCIt concept]
- AML Molecular Analysis Table [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]
is_cytogenetic_abnormality_of_disease
- Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1 [NCIt concept]
- Acute Myeloid Leukemia with BCOR-RARA [NCIt concept]
- Acute Myeloid Leukemia with BCR-ABL1 [NCIt concept]
- Acute Myeloid Leukemia with Biallelic CEBPA Mutation [NCIt concept]
- Acute Myeloid Leukemia with CEBPA Mutation [NCIt concept]
- Acute Myeloid Leukemia with FIP1L1-RARA [NCIt concept]
- Acute Myeloid Leukemia with FLT3/ITD Mutation [NCIt concept]
- Acute Myeloid Leukemia with FUS-ERG [NCIt concept]
- Acute Myeloid Leukemia with Germline CEBPA Mutation [NCIt concept]
- Acute Myeloid Leukemia with In-Frame bZIP CEBPA Mutation [NCIt concept]
- Acute Myeloid Leukemia with KAT6A-CREBBP [NCIt concept]
- Acute Myeloid Leukemia with KMT2A Rearrangement [NCIt concept]
- Acute Myeloid Leukemia with MECOM Rearrangement [NCIt concept]
- Acute Myeloid Leukemia with Monoallelic CEBPA Mutation [NCIt concept]
- Acute Myeloid Leukemia with NPM1 Mutation [NCIt concept]
- Acute Myeloid Leukemia with NPM1-MLF1 [NCIt concept]
- Acute Myeloid Leukemia with NUP98 Rearrangement [NCIt concept]
- Acute Myeloid Leukemia with Recurrent Genetic Abnormalities [NCIt concept]
- Acute Myeloid Leukemia with STAT3-RARA [NCIt concept]
- Acute Myeloid Leukemia with STAT5B-RARA [NCIt concept]
- Acute Myeloid Leukemia with TBL1XR1-RARA [NCIt concept]
- Acute Myeloid Leukemia with a Variant KMT2A Rearrangement [NCIt concept]
- Acute Myeloid Leukemia with a Variant MECOM Rearrangement [NCIt concept]
- Acute Myeloid Leukemia with a Variant RARA Rearrangement [NCIt concept]
- Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 [NCIt concept]
- Acute Myeloid Leukemia with inv(16)(p13.1q22); CBFB-MYH11 [NCIt concept]
- Acute Myeloid Leukemia with inv(3) (q21.3;q26.2); GATA2, MECOM [NCIt concept]
- Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM [NCIt concept]
- Acute Myeloid Leukemia with t(10;11)(p12.3;q23.3); MLLT10-KMT2A [NCIt concept]
- Acute Myeloid Leukemia with t(10;11)(q21.3;q23.3); TET1-KMT2A [NCIt concept]
- Acute Myeloid Leukemia with t(11;17)(q13;q21); NUMA1-RARA [NCIt concept]
- Acute Myeloid Leukemia with t(11;17)(q23;q21); ZBTB16-RARA [NCIt concept]
- Acute Myeloid Leukemia with t(11;19)(q23.3;p13.1); KMT2A-ELL [NCIt concept]
- Acute Myeloid Leukemia with t(11;19)(q23.3;p13.3); KMT2A-MLLT1 [NCIt concept]
- Acute Myeloid Leukemia with t(16;16)(p13.1;q22); CBFB-MYH11 [NCIt concept]
- Acute Myeloid Leukemia with t(1;17)(q42.3;q21.2); IRF2BP2-RARA [NCIt concept]
- Acute Myeloid Leukemia with t(3;12)(q26.2;p13.2); ETV6-MECOM [NCIt concept]
- Acute Myeloid Leukemia with t(3;21)(q26.2;q22.1); MECOM-RUNX1 [NCIt concept]
- Acute Myeloid Leukemia with t(3;3) (q21.3;q26.2); GATA2, MECOM [NCIt concept]
- Acute Myeloid Leukemia with t(3;8)(q26.2;q24); MYC, MECOM [NCIt concept]
- Acute Myeloid Leukemia with t(4;11)(q21.3;q23.3); AFF1-KMT2A [NCIt concept]
- Acute Myeloid Leukemia with t(5;17)(q35;q21); NPM1-RARA [NCIt concept]
- Acute Myeloid Leukemia with t(6;11)(q27;q23.3); MLLT4-KMT2A [NCIt concept]
- Acute Myeloid Leukemia with t(6;9)(p22.3;q34.1); DEK-NUP214 [NCIt concept]
- Acute Myeloid Leukemia with t(8;21)(q22; q22.1); RUNX1-RUNX1T1 [NCIt concept]
- Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A [NCIt concept]
- Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA [NCIt concept]
- Adult Acute Myeloid Leukemia with Recurrent Genetic Abnormalities [NCIt concept]
- Adult Acute Myeloid Leukemia with inv(16)(p13.1q22); CBFB-MYH11 [NCIt concept]
- Adult Acute Myeloid Leukemia with t(16;16)(p13.1;q22); CBFB-MYH11 [NCIt concept]
- Adult Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1 [NCIt concept]
- Adult Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A [NCIt concept]
- Adult Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA [NCIt concept]
- Childhood Acute Megakaryoblastic Leukemia with NUP98-KDM5A [NCIt concept]
- Childhood Acute Myeloid Leukemia with NUP98 Rearrangement [NCIt concept]
- Childhood Acute Myeloid Leukemia with t(11;15)(p15;q35); NUP98-JARID1A [NCIt concept]
- Childhood Acute Myeloid Leukemia with t(5;11)(q35;p15); NUP98-NSD1 [NCIt concept]
- Childhood Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1 [NCIt concept]
- Childhood Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A [NCIt concept]
- Childhood Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA [NCIt concept]
- Core Binding Factor Acute Myeloid Leukemia [NCIt concept]
- Microgranular Acute Promyelocytic Leukemia [NCIt concept]
- Recurrent Acute Myeloid Leukemia with KMT2A Rearrangement [NCIt concept]
- Recurrent Acute Myeloid Leukemia with Recurrent Genetic Abnormalities [NCIt concept]
- Recurrent Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A [NCIt concept]
- Recurrent Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA [NCIt concept]
- Typical Acute Promyelocytic Leukemia [NCIt concept]

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