403834003: Hyperimmunoglobulinemia D with periodic fever (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range (finding)\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Vital signs finding (finding)\Body temperature finding\Abnormal body temperature\Body temperature above reference range (finding)\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Disorder of immune function (disorder)\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\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)\Hereditary periodic fever (disorder)\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of mevalonate kinase\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Hyperimmunoglobulinemia D with periodic fever (disorder)
• \Disease\Recurrent disease\Hereditary periodic fever (disorder)\Hyperimmunoglobulinemia D with periodic fever (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1787885011	Hyper-IgD periodic fever syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1787886012	HIDS - hyper-IgD periodic fever syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2969342012	Hyper-immunoglobulin D periodic fever syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5238557012	Hyperimmunoglobulinemia D with periodic fever (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5238558019	Hyperimmunoglobulinemia D with periodic fever	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5238559010	Hyperimmunoglobulinaemia D with periodic fever	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5238563015	Periodic fever Dutch type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5238560017	A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterised by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhoea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5238561018	A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1771760012	Hyper-IgD periodic fever syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1782838014	Hyper-IgD periodic fever syndrome (HIDS)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1787885011	Hyper-IgD periodic fever syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1787886012	HIDS - hyper-IgD periodic fever syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2969342012	Hyper-immunoglobulin D periodic fever syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2969553017	Hyper-immunoglobulin D periodic fever syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5238557012	Hyperimmunoglobulinemia D with periodic fever (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5238558019	Hyperimmunoglobulinemia D with periodic fever	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5238559010	Hyperimmunoglobulinaemia D with periodic fever	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5238563015	Periodic fever Dutch type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5238560017	A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterised by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhoea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5238561018	A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3446481001000118	Hyperimmunglobulinämie D mit Rückfallfieber	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5264981000241110	syndrome de fièvre périodique causé par une hyperimmunoglobulinémie D	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5264981000241110	syndrome de fièvre périodique causé par une hyperimmunoglobulinémie D	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446481001000118	Hyperimmunglobulinämie D mit Rückfallfieber	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start