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

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary neoplastic syndrome\Autoimmune lymphoproliferative syndrome with recurrent viral infection
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autoimmune lymphoproliferative syndrome with recurrent viral infection
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Autoimmune lymphoproliferative syndrome with recurrent viral infection
• \Disorder of haematopoietic morphology\Lymphoproliferative disorder\Immunoproliferative disorder\Autoimmune lymphoproliferative syndrome with recurrent viral infection

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331464016	Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331465015	Autoimmune lymphoproliferative syndrome with recurrent viral infection	en	Synonym	Active	Case insensitive	SNOMED CT core
3331467011	Caspase 8 deficiency syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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