19604005: Triglyceride storage disease with ichthyosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Triglyceride storage disease with ichthyosis
• \Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Triglyceride storage disease with ichthyosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Triglyceride storage disease with ichthyosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Triglyceride storage disease with ichthyosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Triglyceride storage disease with ichthyosis
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis
• \Disease\Myopathy\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Triglyceride storage disease with ichthyosis
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Triglyceride storage disease with ichthyosis
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Triglyceride storage disease with ichthyosis
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Triglyceride storage disease with ichthyosis
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
33007019	Triglyceride storage disease with ichthyosis	en	Synonym	Active	Case insensitive	SNOMED CT core
33008012	Chanarin-Dorfman disease	en	Synonym	Active	Case sensitive	SNOMED CT core
33009016	Chanarin-Miranda syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
33010014	Ichthyosiform erythroderma with leukocyte vacuolation	en	Synonym	Active	Case insensitive	SNOMED CT core
33011013	Ichthyotic neutral lipid storage disease	en	Synonym	Active	Case insensitive	SNOMED CT core
33012018	Lipid storage myopathy and congenital ichthyosis	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
33013011	Neutral lipid storage disease	en	Synonym	Active	Case insensitive	SNOMED CT core
33014017	Lipid storage myopathy AND congenital ichthyosis	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
479721011	Ichthyosiform erythroderma with leucocyte vacuolation	en	Synonym	Active	Case insensitive	SNOMED CT core
747907012	Triglyceride storage disease with ichthyosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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