Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA

Preferred Label : Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA;

NCIt synonyms : Acute Promyelocytic Leukemia; AML with t(15;17)(q24.1;q21.2); Acute Promyelocytic Leukemia with PML::RARA; Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML::RARA; Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA Fusion; Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML::RARA Fusion;

NCIt related terms : Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML/RARA; Acute promyelocytic leukaemia, t(15;17)(q22;q11-12); Acute Promyelocytic Leukemia with PML-RARA; Acute promyelocytic leukaemia, PML-RAR-alpha; M3 OR Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA;

NCIt definition : An acute promyelocytic leukemia characterized by the reciprocal balanced translocation t(15;17)(q24.1;q21.2) that results in the fusion of the promyelocytic leukemia (PML) gene and retinoic acid receptor-α (RARA) gene. The t(15;17)(q24.1;q21.2) with the resulting PML-RARA fusion gene occurs in over 95% of cases of acute promyelocytic leukemia. The remainder of the cases show variant RARA gene translocations with other genes.;

Neoplastic status : Malignant;

ICD-O code : 9866/3;

Détails

Origin ID

C3182;

UMLS CUI

C0023487;

Automatic exact mappings (from CISMeF team)
- Acute promyelocytic leukaemia with t(15;17)(q24.1;q21.1), PML-RARA [ICD-11 More detail]
- Acute promyelocytic leukaemia, t(15;17)(q22;q11-12) [ICD-11 Extension code]
- Atrichia with papular lesions [OMIM Phenotype]
- PML nuclear body scaffold [ORDO Gene]
- medial oculomotor nucleus [UBERON concept]
- platelet aggregation inhibitors [MeSH Descriptor]
Currated CISMeF NLP mapping
- Acute promyelocytic leukaemia [ICD-10 Sub-category (who)]
- Acute promyelocytic leukaemia [MedDRA Preferred Term]
- Acute promyelocytic leukemia [PASCAL descriptor]
- Acute promyelocytic leukemia [ICD-9 code]
- Acute promyelocytic leukemia [ICD-10 Sub-category]
- Acute promyelocytic leukemia [HPO term]
- Acute promyelocytic leukemia [OMIM Phenotype]
- Acute promyelocytic leukemia [ORDO Disease]
- Acute promyelocytic leukemia [MedDRA LLT]
- Acute promyelocytic leukemia with PML::RARA fusion (morphologic abnormality) [SNOMED CT concept]
- Acute promyelocytic leukemia, FAB M3 (disorder) [SNOMED CT concept]
- acute promyelocytic leukemia [DO Concept]
- leukemia, promyelocytic, acute [MeSH Descriptor]
- leukemia, promyelocytic, acute [MeSH concept]
- promyelocytic leukemia [Disease (Nov.)]
DO Cross reference
- acute promyelocytic leukemia [DO Concept]
Disease excludes abnormal cell
- Neoplastic Lymphoblast [NCIt concept]
Disease excludes normal cell origin
- Lymphocyte [NCIt concept]
Disease may have findings
- Disseminated Intravascular Coagulation [NCIt concept]
- Hypercellular Bone Marrow [NCIt concept]
False automatic mappings
- acute promyelocytic leukemia [SNOMED Notion]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
Has cytogenetic abnormalities
- Chromosomal Rearrangement [NCIt concept]
- RARA Gene Rearrangement [NCIt concept]
- t(15;17)(q24;q21) [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Acute promyelocytic leukaemia [MedDRA Preferred Term]
- Acute promyelocytic leukaemia [ICD-10 Sub-category (who)]
- Acute promyelocytic leukemia [ORDO Disease]
- Acute promyelocytic leukemia [OMIM Phenotype]
- Acute promyelocytic leukemia [ICD-10 Sub-category]
- Acute promyelocytic leukemia [HPO term]
- Acute promyelocytic leukemia [PASCAL descriptor]
- Acute promyelocytic leukemia [MedDRA LLT]
- Acute promyelocytic leukemia with PML::RARA fusion (morphologic abnormality) [SNOMED CT concept]
- Acute promyelocytic leukemia, FAB M3 (disorder) [SNOMED CT concept]
- acute promyelocytic leukemia [DO Concept]
- acute promyelocytic leukemia [SNOMED Notion]
- leukemia, promyelocytic, acute [MeSH Descriptor]
- leukemia, promyelocytic, acute [MeSH concept]
- promyelocytic leukemia [Disease (Nov.)]
associated_with_malfunction_of_gene_product
- Zinc Finger and BTB Domain-Containing Protein 16 [NCIt concept]
concept_is_in_subset
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Neoplasms Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology Terminology [NCIt concept]
- Mapped ICDO3.1 Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Chronic Clinical Course [NCIt concept]
- Cytogenetic Abnormalities Not Detected [NCIt concept]
- Solid Growth Pattern [NCIt concept]
disease_has_abnormal_cell
- Leukemic Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Myeloblast [NCIt concept]
- Neoplastic Myeloid Cell [NCIt concept]
- Neoplastic Promyelocyte [NCIt concept]
disease_has_associated_gene
- MIR15A Gene [NCIt concept]
- MIR15A wt Allele [NCIt concept]
- MIR210 Gene [NCIt concept]
- MIR210 wt Allele [NCIt concept]
- MIR223 Gene [NCIt concept]
- MIR223 wt Allele [NCIt concept]
- MIRLET7C Gene [NCIt concept]
- MIRLET7C wt Allele [NCIt concept]
- MIRLET7D Gene [NCIt concept]
- MIRLET7D wt Allele [NCIt concept]
- STAT5B Gene [NCIt concept]
- STAT5B wt Allele [NCIt concept]
- ZBTB16 Gene [NCIt concept]
- ZBTB16 wt Allele [NCIt concept]
disease_has_finding
- Blasts 10 Percent or More of Bone Marrow Nucleated Cells [NCIt concept]
- Blasts 10 Percent or More of Peripheral Blood White Cells [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Neoplastic Promyelocytes in Bone Marrow Markedly Increased [NCIt concept]
- Recurrent Genetic Abnormalities Present [NCIt concept]
disease_has_molecular_abnormality
- Fusion Protein Expression [NCIt concept]
- PML-RARA Fusion Protein Expression [NCIt concept]
disease_has_normal_cell_origin
- Bone Marrow Stem Cell [NCIt concept]
- Bone Marrow Stem Cell with Potential to Differentiate to Granulocytic Lineage [NCIt concept]
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic Tissue [NCIt concept]
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- PML/RARA Fusion Gene [NCIt concept]
- RARA Gene [NCIt concept]
disease_may_have_abnormal_cell
- Faggot Cell [NCIt concept]
disease_may_have_associated_disease
- Disseminated Intravascular Coagulation [NCIt concept]
pathogenesis_of_disease_involves_gene
- PML/RARA Fusion Gene [NCIt concept]

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