702444009: Autoimmune lymphoproliferative syndrome (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary cancer-predisposing syndrome\Autoimmune lymphoproliferative syndrome

\Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome

\Autosomal hereditary disorder\Autoimmune lymphoproliferative syndrome

\Disorder of immune function (disorder)\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome
\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Autoimmune lymphoproliferative syndrome

\Disorder of hematopoietic cell proliferation (disorder)\Lymphoproliferative disorder\Autoimmune lymphoproliferative syndrome

\Disorder of body system\Disorder of immune structure (disorder)\Autoimmune lymphoproliferative syndrome
\Disorder of body system\Disorder of hematopoietic structure (disorder)\Autoimmune lymphoproliferative syndrome
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995326018 Autoimmune lymphoproliferative syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995459016 Autoimmune lymphoproliferative syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995703010 Canale-Smith syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5286163018 ALPS - autoimmune lymphoproliferative syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autoimmune lymphoproliferative syndrome	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	Lymphocyte disorder	false	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Autoimmune lymphoproliferative syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	Disorder of immune structure (disorder)	true	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	Primary immune deficiency disorder	true	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Finding site	Lymphocyte	true	Inferred relationship	Some	1
Autoimmune lymphoproliferative syndrome	Is a	Lymphoreticular tumour	false	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	Hematologic neoplasm of uncertain behavior	false	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	Neoplasm affecting hematopoietic structure (disorder)	false	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Associated morphology	lymfoproliferativ sygdom	false	Inferred relationship	Some	1
Autoimmune lymphoproliferative syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	Lymphoproliferative disorder	true	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Is a	Disorder of hematopoietic structure (disorder)	true	Inferred relationship	Some
Autoimmune lymphoproliferative syndrome	Associated morphology	Lymphoproliferative disorder (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.	Is a	True	Autoimmune lymphoproliferative syndrome	Inferred relationship	Some
A rare, genetic, lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.	Is a	True	Autoimmune lymphoproliferative syndrome	Inferred relationship	Some

This concept is not in any reference sets