1290093003: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder)
• \Disorder of immune function (disorder)\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder)
• \Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder)
• \Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder)
• \Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder)
• \Systemic disease\Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Sep 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5266917017	VEXAS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5266918010	Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5266919019	Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5266920013	A rare autoinflammatory syndrome with characteristics of adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5266921012	A rare autoinflammatory syndrome with characteristics of adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis and arthralgia. Laboratory examination reveals progressive haematologic abnormalities including macrocytic anaemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5266917017	VEXAS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5266918010	Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5266919019	Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5266920013	A rare autoinflammatory syndrome with characteristics of adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis and arthralgia. Laboratory examination reveals progressive hematologic abnormalities including macrocytic anemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5266921012	A rare autoinflammatory syndrome with characteristics of adult onset of rheumatologic manifestations such as recurrent fever, skin and pulmonary inflammation, ear and nose chondritis, vasculitis, deep vein thrombosis and arthralgia. Laboratory examination reveals progressive haematologic abnormalities including macrocytic anaemia and thrombocytopenia, as well as elevated inflammatory markers. Bone marrow biopsy shows hypercellularity and signs of bone marrow dysplasia. The disease primarily occurs in males and is caused by somatic mutations on chromosome Xp11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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