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721305008: Acute myeloid leukemia due to recurrent genetic abnormality (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2023. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3324918013 Acute myeloid leukemia due to recurrent genetic abnormality (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3324919017 Acute myeloid leukemia due to recurrent genetic abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3324920011 Acute myeloid leukaemia due to recurrent genetic abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3392411001000113 Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Is a Acute myeloid leukemia, disease false Inferred relationship Some
    Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Associated morphology Acute myeloid leukemia with recurrent genetic abnormality false Inferred relationship Some 1
    Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Finding site Bone marrow structure false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Acute promyelocytic leukemia, FAB M3 Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    Acute myelomonocytic leukemia - eosinophilic variant Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    Acute myeloid leukemia with t(9:11)(p22;q23); MLLT3-MLL (disorder) Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    A distinct form of acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    A rare subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anaemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    Acute myeloid leukemia with FMS-like tyrosine kinase-3 mutation Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    A subtype of acute myeloid leukaemia with recurrent genetic abnormalities, characterised by clonal proliferation of myeloid blasts harbouring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anaemia, thrombocytopenia, and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    Acute myeloid leukemia with t(8;21)(q22;q22) RUNX1-RUNX1T1 (disorder) Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss. Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some
    A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor. Is a False Akute myeloblastische Leukämie mit rekurrenter genetischer Anomalie Inferred relationship Some

    Reference Sets

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    REPLACED BY association reference set (foundation metadata concept)

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