718558008: Mevalonic aciduria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of immune system\Mevalonic aciduria
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mevalonic aciduria
• \Disorder of immune function\Autoinflammatory disease\Deficiency of mevalonate kinase\Mevalonic aciduria
• \Disorder of immune function\Hereditary disorder of immune system\Mevalonic aciduria
• \Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Deficiency of mevalonate kinase\Mevalonic aciduria
• \Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Deficiency of mevalonate kinase\Mevalonic aciduria
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Mevalonic aciduria
• \Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Deficiency of mevalonate kinase\Mevalonic aciduria
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of mevalonate kinase\Mevalonic aciduria

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3312758018	Mevalonic aciduria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3312759014	Mevalonic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
3312760016	Complete mevalonate kinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3312761017	A rare, very severe form of mevalonate kinase deficiency with characteristics of dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.	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

Description inactivation indicator reference set

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