722290008: Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary cancer-predisposing syndrome\A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
• \Disorder of hematopoietic cell proliferation (disorder)\Lymphoproliferative disorder\Immunoproliferative disorder\A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331466019	A rare genetic disorder with characteristics of lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. Prevalence of this disorder is not known. It is extremely rare with four individuals in one family identified to date. Development is reported to be normal in affected patients. Clinical signs include lymphadenopathy and splenomegaly, and development of recurrent sinopulmonary and significant mucocutaneous infections with the Herpes zoster and Herpes simplex viruses. The disorder is caused by germline homozygous mutations in the CASP8 gene (2q33-q34) involved in the execution phase of cell apoptosis. Carriers with a normal copy of the gene are asymptomatic. Biologically this syndrome has manifestations of slightly elevated double-negative T cells (DNTs) and defective Fas-mediated apoptosis of B, T, and NK lymphocytes. The pattern of inheritance appears to be autosomal recessive.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402880015	A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402881016	A rare genetic disorder characterised by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331464016	Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331465015	Autoimmune lymphoproliferative syndrome with recurrent viral infection	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331467011	Caspase 8 deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

Back to Start