720830009: Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Degenerative disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Congenital disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D
• \Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322212017	Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3322213010	Congenital neuronal ceroid lipofuscinosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322214016	Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3322220015	Neuronal ceroid lipofuscinosis due to cathepsin D deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3322221016	Neuronal ceroid lipofuscinosis 10	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3535042018	Cathepsin D deficient neuronal ceroid lipofuscinosis	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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