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77121009: X-linked lymphoproliferative syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
128034012 X-linked lymphoproliferative syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
817917012 X-linked lymphoproliferative syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1234060015 XLPS - X-linked lymphoproliferative syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1234062011 Duncan's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4008251015 Purtilo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4636988011 Familial fatal Epstein-Barr infection en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4636989015 Severe susceptibility to Epstein-Barr infection en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4641711000241116 syndrome lymphoprolifératif lié au chromosome X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433591001000113 Lymphoproliferative Krankheit, X-chromosomale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked lymphoproliferative syndrome Is a Hereditary disorder of lymphatic system (disorder) false Inferred relationship Some
X-linked lymphoproliferative syndrome Is a Hereditary disorder of hematologic system false Inferred relationship Some
X-linked lymphoproliferative syndrome Is a Hereditary disorder of immune system true Inferred relationship Some
X-linked lymphoproliferative syndrome Is a Immunodeficiency with major anomalies false Inferred relationship Some
X-linked lymphoproliferative syndrome Is a Congenital immunodeficiency disease false Inferred relationship Some
X-linked lymphoproliferative syndrome Is a Congenital anomaly of the hematopoietic system false Inferred relationship Some
X-linked lymphoproliferative syndrome Is a Atypical lymphoproliferative disorder true Inferred relationship Some
X-linked lymphoproliferative syndrome Is a X-linked hereditary disease false Inferred relationship Some
X-linked lymphoproliferative syndrome Associated morphology Immunoproliferative morphology false Inferred relationship Some 2
X-linked lymphoproliferative syndrome Pathological process Malignant neoplastic process false Inferred relationship Some
X-linked lymphoproliferative syndrome Finding site Lymphoid system consists of lymph nodes, lymphatic vessels and organs that contain lymphoid tissue, e.g. thymus, spleen. false Inferred relationship Some
X-linked lymphoproliferative syndrome Finding site Leukocyte false Inferred relationship Some
X-linked lymphoproliferative syndrome Associated morphology néoplasie maligne (morphologie) false Inferred relationship Some
X-linked lymphoproliferative syndrome Pathological process Neoplastic process false Inferred relationship Some
X-linked lymphoproliferative syndrome Occurrence Congenital false Inferred relationship Some 2
X-linked lymphoproliferative syndrome Finding site Hematopoietic system structure false Inferred relationship Some
X-linked lymphoproliferative syndrome Finding site Lymphocytic tissue structure false Inferred relationship Some 1
X-linked lymphoproliferative syndrome Associated morphology Proliferation false Inferred relationship Some 1
X-linked lymphoproliferative syndrome Finding site Structure of immune system (body structure) false Inferred relationship Some 2
X-linked lymphoproliferative syndrome Finding site Hematopoietic system structure false Inferred relationship Some
X-linked lymphoproliferative syndrome Associated morphology White blood cell abnormality false Inferred relationship Some
X-linked lymphoproliferative syndrome Finding site Structure of immune system (body structure) false Inferred relationship Some 3
X-linked lymphoproliferative syndrome Has definitional manifestation Immune system finding false Inferred relationship Some
X-linked lymphoproliferative syndrome Associated morphology Lymphoproliferative disorder (morphologic abnormality) true Inferred relationship Some 1
X-linked lymphoproliferative syndrome Pathological process (attribute) Abnormal immune process (qualifier value) false Inferred relationship Some 4
X-linked lymphoproliferative syndrome Is a Disorder of immune structure (disorder) true Inferred relationship Some
X-linked lymphoproliferative syndrome Is a Primary immune deficiency disorder true Inferred relationship Some
X-linked lymphoproliferative syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
X-linked lymphoproliferative syndrome Finding site Structure of immune system (body structure) true Inferred relationship Some 1
X-linked lymphoproliferative syndrome Is a X-linked recessive hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Fatal infectious mononucleosis associated with X-linked lymphoproliferative syndrome Associated with False X-linked lymphoproliferative syndrome Inferred relationship Some 2
A rare, genetic, primary immunodeficiency disorder characterised by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, haemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinaemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anaemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. Is a True X-linked lymphoproliferative syndrome Inferred relationship Some
A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn's disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare, and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells. Is a True X-linked lymphoproliferative syndrome Inferred relationship Some

This concept is not in any reference sets

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