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763309005: Acute myeloid leukemia with nucleophosmin 1 somatic mutation (disorder)

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
3638491016 Acute myeloid leukemia with nucleophosmin 1 somatic mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638492011 Acute myeloid leukaemia with NPM1 somatic mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3638493018 Acute myeloid leukemia with NPM1 somatic mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3638494012 Acute myeloid leukemia with nucleophosmin 1 somatic mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638495013 Acute myeloid leukaemia with nucleophosmin 1 somatic mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403994011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403995012 A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective haematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterised by clonal proliferation of myeloid blasts harbouring 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acute myeloid leukemia with nucleophosmin 1 somatic mutation (disorder) Is a Acute myeloid leukemia due to recurrent genetic abnormality false Inferred relationship Some
Acute myeloid leukemia with nucleophosmin 1 somatic mutation (disorder) Associated morphology Acute myeloid leukemia with mutated NPM1 (morphologic abnormality) true Inferred relationship Some 1
Acute myeloid leukemia with nucleophosmin 1 somatic mutation (disorder) Finding site Bone marrow structure true Inferred relationship Some 1
Acute myeloid leukemia with nucleophosmin 1 somatic mutation (disorder) Is a Acute myeloid leukemia, disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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