764855007: Acute myeloid leukemia with CCAAT/enhancer binding protein alpha somatic mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow (disorder)\Myeloid leukaemia\Acute myeloid leukemia, disease\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).
• \Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow (disorder)\Acute leukemia\Acute myeloid leukemia, disease\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).
• \Mass of body structure\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Leukaemia\Myeloid leukaemia\Acute myeloid leukemia, disease\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).
• \Mass of body structure\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Leukaemia\Acute leukemia\Acute myeloid leukemia, disease\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).
• \Disease\Disorder of hematopoietic cell proliferation (disorder)\Myeloproliferative disorder (disorder)\Myeloid leukaemia\Acute myeloid leukemia, disease\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).
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of hematopoietic cell type (disorder)\Malignant neoplasm of lymphoid, hematopoietic and/or related tissue (disorder)\Leukaemia\Myeloid leukaemia\Acute myeloid leukemia, disease\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).
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of hematopoietic cell type (disorder)\Malignant neoplasm of lymphoid, hematopoietic and/or related tissue (disorder)\Leukaemia\Acute leukemia\Acute myeloid leukemia, disease\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).
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Malignant neoplastic disease (disorder)\Malignant neoplasm of lymphoid, hematopoietic and/or related tissue (disorder)\Leukaemia\Myeloid leukaemia\Acute myeloid leukemia, disease\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).
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Malignant neoplastic disease (disorder)\Malignant neoplasm of lymphoid, hematopoietic and/or related tissue (disorder)\Leukaemia\Acute leukemia\Acute myeloid leukemia, disease\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).
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Leukaemia\Myeloid leukaemia\Acute myeloid leukemia, disease\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).
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Leukaemia\Acute leukemia\Acute myeloid leukemia, disease\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).
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Neoplasm affecting hematopoietic structure (disorder)\Leukaemia\Myeloid leukaemia\Acute myeloid leukemia, disease\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).
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Neoplasm affecting hematopoietic structure (disorder)\Leukaemia\Acute leukemia\Acute myeloid leukemia, disease\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).
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Myeloproliferative disorder (disorder)\Myeloid leukaemia\Acute myeloid leukemia, disease\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).
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Neoplasm of bone marrow (disorder)\Myeloid leukaemia\Acute myeloid leukemia, disease\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).
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Neoplasm of bone marrow (disorder)\Acute leukemia\Acute myeloid leukemia, disease\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).
• \Disease\Disorder of body system\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Leukaemia\Myeloid leukaemia\Acute myeloid leukemia, disease\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).
• \Disease\Disorder of body system\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Leukaemia\Acute leukemia\Acute myeloid leukemia, disease\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).

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5404390015	A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404391016	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).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655314019	Acute myeloid leukaemia with CEBPA somatic mutations	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655316017	Acute myeloid leukemia with CEBPA somatic mutations	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655317014	Acute myeloid leukemia with CCAAT/enhancer binding protein alpha somatic mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655318016	Acute myeloid leukemia with CCAAT/enhancer binding protein alpha somatic mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655319012	Acute myeloid leukaemia with CCAAT/enhancer binding protein alpha somatic mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5946921000241112	LMA (leucémie myéloïde aigüe) avec mutation somatique de la protéine CEBPA/CCAAT (enhancer-binding protein alpha)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5946931000241114	leucémie myéloïde aigüe avec mutation somatique de la protéine 'enhancer-binding protein alpha'	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395361001000112	Akute myeloische Leukämie mit somatischen CEBPA-Genmutationen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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