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68979007: Heavy chain disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Finding of blood substance level\Blood substance level above reference range\Gammopathy\Disorder of increased production of immunoglobulin protein (disorder)\Monoclonal gammopathy (clinical)\Heavy chain disease (disorder)
\Finding of substance level (finding)\Finding of blood substance level\Finding of protein in serum or plasma\Gammopathy\Disorder of increased production of immunoglobulin protein (disorder)\Monoclonal gammopathy (clinical)\Heavy chain disease (disorder)
\Finding of substance level (finding)\Protein level - finding\Finding of paraprotein measurement (finding)\Paraprotein detected (finding)\Monoclonal abnormal heavy chain protein devoid of light chains detected (finding)\Heavy chain disease (disorder)
\Finding of substance level (finding)\Protein level - finding\Finding of paraprotein measurement (finding)\Paraprotein detected (finding)\Monoclonal gammopathy (clinical)\Heavy chain disease (disorder)
\Finding of substance level (finding)\Protein level - finding\Finding of protein in serum or plasma\Gammopathy\Disorder of increased production of immunoglobulin protein (disorder)\Monoclonal gammopathy (clinical)\Heavy chain disease (disorder)
\Finding of substance level (finding)\Protein level - finding\Globulin level - finding\Globulin level outside reference range (finding)\Globulin above reference range\Gammopathy\Disorder of increased production of immunoglobulin protein (disorder)\Monoclonal gammopathy (clinical)\Heavy chain disease (disorder)
\Finding of substance level (finding)\Protein level - finding\Immunoglobulin level - finding\Immunoglobulins outside reference range\Immunoglobulin above reference range (finding)\Disorder of increased production of immunoglobulin protein (disorder)\Monoclonal gammopathy (clinical)\Heavy chain disease (disorder)

\Detected by measurement (finding)\Paraprotein detected (finding)\...

\Monoclonal abnormal heavy chain protein devoid of light chains detected (finding)\Heavy chain disease (disorder)

\Monoclonal gammopathy (clinical)\Heavy chain disease (disorder)

\Disease\Disorder of immune function (disorder)\Gammopathy\Disorder of increased production of immunoglobulin protein (disorder)\Monoclonal gammopathy (clinical)\Heavy chain disease (disorder)
\Disease\Disorder of hematopoietic cell proliferation (disorder)\Lymphoproliferative disorder\Lymphoreticular tumour\Plasma cell neoplasm (disorder)\Heavy chain disease (disorder)
\Disease\Disorder of hematopoietic cell proliferation (disorder)\Lymphoproliferative disorder\Immunoproliferative disorder\Immunoproliferative neoplasm\Plasma cell neoplasm (disorder)\Heavy chain disease (disorder)
\Disease\Disorder of hematopoietic cell proliferation (disorder)\Lymphoproliferative disorder\Immunoproliferative disorder\Immunoproliferative neoplasm\Malignant immunoproliferative disease (clinical)\Heavy chain disease (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of hematopoietic cell type (disorder)\Lymphoreticular tumour\Plasma cell neoplasm (disorder)\Heavy chain disease (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Malignant neoplastic disease (disorder)\Malignant immunoproliferative disease (clinical)\Heavy chain disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

114573012 Heavy chain disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

808873012 Heavy chain disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4582941000005116 heavy chain disease da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Heavy chain disease (disorder)	Is a	Clonal protein disease	false	Inferred relationship	Some
Heavy chain disease (disorder)	Is a	Plasma cell disorder	false	Inferred relationship	Some
Heavy chain disease (disorder)	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Heavy chain disease (disorder)	Associated morphology	Immunoproliferative morphology	false	Inferred relationship	Some	2
Heavy chain disease (disorder)	Pathological process	Malignant neoplastic process	false	Inferred relationship	Some
Heavy chain disease (disorder)	Finding site	Lymphoid system consists of lymph nodes, lymphatic vessels and organs that contain lymphoid tissue, e.g. thymus, spleen.	false	Inferred relationship	Some
Heavy chain disease (disorder)	Finding site	Leukocyte	false	Inferred relationship	Some
Heavy chain disease (disorder)	Associated morphology	malignt neoplasme, morfologisk forandring	false	Inferred relationship	Some
Heavy chain disease (disorder)	Pathological process	Neoplastic process	false	Inferred relationship	Some
Heavy chain disease (disorder)	Finding site	Plasma cell	false	Inferred relationship	Some
Heavy chain disease (disorder)	Associated morphology	Proliferation	false	Inferred relationship	Some	1
Heavy chain disease (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some	2
Heavy chain disease (disorder)	Finding site	Lymphocytic tissue structure	false	Inferred relationship	Some	1
Heavy chain disease (disorder)	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Heavy chain disease (disorder)	Associated morphology	White blood cell abnormality	false	Inferred relationship	Some
Heavy chain disease (disorder)	Is a	Plasma cell neoplasm (disorder)	true	Inferred relationship	Some
Heavy chain disease (disorder)	Is a	Monoclonal gammopathy (clinical)	true	Inferred relationship	Some
Heavy chain disease (disorder)	Is a	Primary malignant neoplasm (disorder)	false	Inferred relationship	Some
Heavy chain disease (disorder)	Associated morphology	Heavy chain disease (morphologic abnormality)	false	Inferred relationship	Some	4
Heavy chain disease (disorder)	Has definitional manifestation	Monoclonal abnormal heavy chain protein devoid of light chains detected (finding)	false	Inferred relationship	Some
Heavy chain disease (disorder)	Has definitional manifestation	Serum gamma globulin above reference range	false	Inferred relationship	Some
Heavy chain disease (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Heavy chain disease (disorder)	Has definitional manifestation	Immunoglobulin above reference range (finding)	false	Inferred relationship	Some
Heavy chain disease (disorder)	Has interpretation	Above reference range (qualifier value)	true	Inferred relationship	Some	1
Heavy chain disease (disorder)	Interprets	Serum globulin measurement	true	Inferred relationship	Some	1
Heavy chain disease (disorder)	Has interpretation	Present	false	Inferred relationship	Some	3
Heavy chain disease (disorder)	Interprets	Paraprotein measurement	false	Inferred relationship	Some	3
Heavy chain disease (disorder)	Has interpretation	Above reference range (qualifier value)	true	Inferred relationship	Some	2
Heavy chain disease (disorder)	Interprets	Immunoglobulin measurement	true	Inferred relationship	Some	2
Heavy chain disease (disorder)	Is a	Monoclonal abnormal heavy chain protein devoid of light chains detected (finding)	true	Inferred relationship	Some
Heavy chain disease (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	5
Heavy chain disease (disorder)	Is a	Malignant immunoproliferative disease (clinical)	true	Inferred relationship	Some
Heavy chain disease (disorder)	Interprets	Paraprotein measurement	true	Inferred relationship	Some	4
Heavy chain disease (disorder)	Has interpretation	Detected	true	Inferred relationship	Some	4
Heavy chain disease (disorder)	Associated morphology	Heavy chain disease (morphologic abnormality)	true	Inferred relationship	Some	3
Heavy chain disease (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Alpha heavy chain disease (clinical)	Is a	True	Heavy chain disease (disorder)	Inferred relationship	Some
Gamma heavy chain disease (clinical)	Is a	True	Heavy chain disease (disorder)	Inferred relationship	Some
delta-heavy chain disease	Is a	False	Heavy chain disease (disorder)	Inferred relationship	Some
epsilon-heavy chain disease	Is a	False	Heavy chain disease (disorder)	Inferred relationship	Some
Mu heavy chain disease	Is a	True	Heavy chain disease (disorder)	Inferred relationship	Some
Nodular glomerulosclerosis due to heavy chain deposition disease	Due to	False	Heavy chain disease (disorder)	Inferred relationship	Some	2
A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia.	Is a	True	Heavy chain disease (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
114573012	Heavy chain disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
808873012	Heavy chain disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4582941000005116	heavy chain disease	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)