66751000: Niemann-Pick disease, type C (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipoidosis\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C
• \Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Sphingomyelin/cholesterol lipidosis\Niemann-Pick disease, type C

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
110890015	Niemann-Pick disease, type C	en	Synonym	Active	Case sensitive	SNOMED CT core
500515016	Supraoptic vertical ophthalmoplegia	en	Synonym	Active	Case insensitive	SNOMED CT core
500516015	Niemann-Pick disease type C	en	Synonym	Active	Case sensitive	SNOMED CT core
806399018	Niemann-Pick disease, type C (disorder)	en	Fully specified name	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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