52165006: Niemann-Pick disease, type A (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1231085011	Niemann-Pick disease neuropathic type	en	Synonym	Active	Case sensitive	SNOMED CT core
1231086012	Niemann-Pick disease type A	en	Synonym	Active	Case sensitive	SNOMED CT core
790144014	Niemann-Pick disease, type A (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
86818013	Niemann-Pick disease, type A	en	Synonym	Active	Case sensitive	SNOMED CT core
86819017	Niemann-Pick disease, acute neuropathic form	en	Synonym	Active	Case sensitive	SNOMED CT core
86820011	Classical Niemann-Pick disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
86821010	Niemann-Pick disease, acute neurovisceral form	en	Synonym	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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